7.
NERVOUS SYSTEM
Total number of publications: 133
Total number of cases: 3224
Total number of amplifications: 808
Tumor
7.1.1.1
7.1.1.1
7.1.1.1
Loss
Amplicon
Percentage
(number of
cases)
Amplified
genes
(studied from
the same
cases)
Reference
ASTROCYTIC TUMOR, LOW-GRADE (2/18 cases)
amp(8q21qter)/amp(8q23qter)
Comment:
0/8 pediatric patients
2/10 adult patients:
amp(8q21qter)/amp(8q23qter)
Schröck E, Blume C, Meffert M-C, du Manoir S, Bersch W, Kiessling M, Lozanova T, Thiel G, Witkowski R,
Ried T, Cremer T: Recurrent gain of chromosome arm 7q in low-grade astrocytic tumors studied by
comparative genomic hybridization. Genes Chromosomes Cancer 1996, 15:199-205.
ASTROCYTIC TUMOR (?/35 cases)
Comment: Amplifications were not determined.
Maruno M, Ninomiya H, Ghulam Muhammad AK, Hirata M, Kato A, Yoshimine T: Whole-genome analysis of
human astrocytic tumors by comparative genomic hybridization. Brain Tumor Pathol 2000, 17:21-27.
ASTROCYTOMA, LOW-GRADE (0/2 cases)
Harada K, Nishizaki T, Ozaki S, Kubota H, Ito H, Sasaki K: Intratumoral cytogenetic heterogeneity detected by
comparative genomic hybridization and laser scanning cytometry in human gliomas. Cancer Res 1998,
58:4694-4700.
7.1.1.1
7.1.1.1
7.1.1.1
7.1.1.1
ASTROCYTOMA, LOW-GRADE (1/7 cases)
amp(7q33qter,8q23qter)
Nishizaki T, Ozaki S, Harada K, Ito H, Arai H, Beppu T, Sasaki K: Investigation of genetic alterations
associated with the grade of astrocytic tumor by comparative genomic hybridization. Genes Chromosomes
Cancer 1998, 21:340-346.
ASTROCYTOMA, LOW-GRADE (2/9 cases)
amp(8q)/amp(8q)
Nishizaki T, Kubota H, Harada K, Harada K, Ito H, Suzuki M, Sasaki K: Clinical evidence of distinct subgroups
of astrocytic tumors defined by comparative genomic hybridization. Hum Pathol 2000, 31:608-614.
ASTROCYTOMA (?/24 cases: 16 astrocytomas and 8 glioblastomas)
Comment: Amplifications were not determined.
Sallinen S-L, Sallinen P, Haapasalo H, Kononen J, Karhu R, Helén P, Isola J: Accumulation of genetic changes
is associated with poor prognosis in grade II astrocytomas. Am J Pathol 1997, 151:1799-1807.
ASTROCYTOMA (9/23 cases)
amp(1,2,4q,7,20q)/amp(9)/amp(1,7,9)/amp(1q)/amp(1q,2,3q,8q)/amp(1q,2q23q32,3q26.2qter,7,17q,18)/amp(1
7q)/amp(1q)/amp(1q42qter,2q23q34,3q26.1qter,7q)
Comment:
4/10 anaplastic astrocytomas:
amp(1,2,4q,7,20q)/amp(9)/amp(1,7,9)/amp(1q)
5/13 glioblastomas:
amp(1q,2,3q,8q)/amp(1q,2q23q32,3q26.2qter,7,17q,18)/amp(17q)/amp(1q)/amp(1q42qter,2q23q34,3q26.1qter
,7q)
Rickert CH, Sträter R, Kaatsch P, Wassmann H, Jürgens H, Dockhorn-Dworniczak B, Paulus W: Pediatric
high-grade astrocytomas show chromosomal imbalances distinct from adult cases. Am J Pathol 2001,
158:1525-1532.
7.1.1.1
7.1.1.1
7.1.1.1
7.1.1.1
7.1.1.1
ASTROCYTOMA, MALIGNANT (3/13 cases)
amp(7q21q32,8q13qter)/amp(1p21p22,2q22,7q22qter,8q13q23,12p11.2pter,12q12q13,13q11q14)/amp(8q21q
22,12q15q21)
Warr T, Ward S, Burrows J, Harding B, Wilkins P, Harkness W, Hayward R, Darling J, Thomas D:
Identification of extensive genomic loss and gain by comparative genomic hybridisation in malignant
astrocytoma in children and young adults. Genes Chromosomes Cancer 2001, 31:15-22.
ASTROCYTOMA, INFANTILE AND GANGLIOGLIOMA(?/3 cases)
Comment: Amplifications were not determined.
Kros JM, Delwel EJ, de Jong TH, Tanghe HL, van Run PR, Vissers K, Alers JC: Desmoplastic infantile
astrocytoma and ganglioglioma: a search for genomic characteristics. Acta Neuropathol (Berl) 2002, 104:144148.
ASTROCYTOMA, SUBEPENDYMAL GIANT CELL (0/8 cases)
Rickert CH, Paulus W: No chromosomal imbalances detected by comparative genomic hybridisation in
subependymal giant cell astrocytomas. Acta Neuropathol (Berl) 2002, 104:206-208.
Astrocytoma, giant-cell
Additional
4
references
Astrocytoma, juvenile
Additional
4
pivocytic
reference
7.1.1.1
Astrocytic tumors: 43 amplifications out of 142 cases
7.1.1.2
7.1.1.2
7.1.1.2
7.1.1.2
7.1.1.2
ANAPLASTIC ASTROCYTOMA (1/2 cases)
amp(12p)
Schröck E, Thiel G, Lozanova T, du Manoir S, Meffert M-C, Jauch A, Speicher MR, Nürnberg P, Vogel S,
Jänisch W, Donis-Keller H, Ried T, Witkowski R, Cremer T: Comparative genomic hybridization of human
malignant gliomas reveals multiple amplification sites and nonrandom chromosomal gains and losses. Am J
Pathol 1994, 144:1203-1218.
ANAPLASTIC ASTROCYTOMA (4/8 cases)
amp(17q22qter)/amp(11p11p12)/amp(1q32,7p11p14)/amp(4q12q13,7q32qter)
Harada K, Nishizaki T, Ozaki S, Kubota H, Ito H, Sasaki K: Intratumoral cytogenetic heterogeneity detected by
comparative genomic hybridization and laser scanning cytometry in human gliomas. Cancer Res 1998,
58:4694-4700.
ANAPLASTIC ASTROCYTOMA (5/12 cases)
amp(1q32,7p11.2p14)/amp(9p22pter)/amp(11q13)/amp(12p12pter)/amp(12q13q14)
Nishizaki T, Ozaki S, Harada K, Ito H, Arai H, Beppu T, Sasaki K: Investigation of genetic alterations
associated with the grade of astrocytic tumor by comparative genomic hybridization. Genes Chromosomes
Cancer 1998, 21:340-346.
ANAPLASTIC ASTROCYTOMA (1/16 cases)
amp(7p)
Nishizaki T, Kubota H, Harada K, Harada K, Ito H, Suzuki M, Sasaki K: Clinical evidence of distinct subgroups
of astrocytic tumors defined by comparative genomic hybridization. Hum Pathol 2000, 31:608-614.
ANAPLASTIC ASTROCYTOMA (?/80 cases)
Comment: Number of cases was not clearly defined, but amplifications at 7p11.2p12 (EGFR) occurred in 2/35
primary and 4/45 recurrent AA, 4q12 (PDGFAR) in 5/45 recurrent AA, 1p31.3p32, and 2p24p25 (NMYC)
occurred in two tumors.
Kunwar S, Mohapatra G, Bollen A, Lamborn KR, Prados M, Feuerstein BG: Genetic subgroups of anaplastic
astrocytomas correlate with patient age and survival. Cancer Res 2001, 61:7683-7688.
7.1.1.2
Anaplastic astrocytoma: 29 amplifications out of 118 cases
7.1.1.3
Glioblastoma, multiforme 1p31.1
1p34-p36.1
1p35-pter
1p36
1p36.2-p36.3
1q32
2p23-pter
3q13.3-q23
3q26.3-qter
3q27-q28
4p15-pter
4q12
4q12-q13
4q24-q27
4q31.2-q32
5cen-p13
5q34-qter
6q24-qter
7p11.1-p12
7p11.2
7p11.2-p12
7p11-p13
7p15.3-pter
7p21
7p21-p22
7qcen-q11.2
7q11.23-21.2
10 (3/30)
1 (1/97)
3 (1/30)
1 (1/97)
13 (4/30)
3 (1/30),
6(6/97)
3 (1/30),
2(2/97)
10 (3/30)
1 (1/97)
2 (2/97)
1 (1/97)
3 (3/97)
10 (3/30),
1(1/97)
1 (1/97)
17 (5/30)
1 (1/97)
10 (3/30)
27 (8/30)
18 (2/11)
10 (1/10)
6 (6/97)
17 (5/30)
3 (1/30)
10 (1/10)
1 (1/97)
3 (1/30),
2(2/97)
3 (1/30)
2
15
21
15
21
15,21
15,21
21
15
15
15
15
15,21
15
21
15
21
21
18
22
15
21
21
22
15
15,21
21
7q11.23-q22
7q21
7q21-q22
7q21.2-q22
7q21.2-q33
7q21.3-q32
7q22
7q31
7q34-qter
7q35-qter
8q22-q23
9p21-p22
9cen-p13
10p
10q23-q24
10q25.2-qter
11p15
11q13-q14.3
11q23.3
12p11-p12
12p12.3-pter
12p13
12q13-q15
12q13.2-q14
12q13.2-q15
13q13-q14
13q31
14q12-q21
14q24.3-q32.2
15
15cen-q13
3 (1/30)
1 (1/97)
1 (1/97)
1 (1/97)
9 (1/11)
3 (1/30)
1 (1/97)
1 (1/97)
7 (2/30)
2 (2/97)
13 (4/30)
63 (19/30)
1 (1/97)
57 (17/30
77 (23/30)
40 (12/30)
2 (2/97)
1 (1/97)
13 (4/30)
9 (1/11)
3 (1/30)
1 (1/97)
3 (3/97)
3 (1/33)
3 (1/30),
2(2/97)
50 (15/30)
50 (15/30)
1 (1/97)
23 (7/30)
13 (4/30)
1 (1/97)
21
15
15
15
18
21
15
15
21
15
21
21
15
21
21
21
15
15
21
18
21
15
15
18
15,21
21
21
15
21
21
15
17q22-qter
17q24-qter
18q12.2-q22
19q13.1-q13.2
20pcen-p12
7.1.1.3
7.1.1.3
7.1.1.3
3 (1/30),
1(1/97)
2 (2/97)
13 (4/30)
1 (1/97)
1 (1/97)
17 (5/30)
50 (5/10)
10 (3/30)
15,21
15
21
15
15
21
22
21
22q12-qter
22q
Y
GLIOBLASTOMA, MULTIFORME (17/24 cases)
amp(8q,12q13q15)/amp(5p,7p13,12q13q15)/amp(7p13,12q13q15)/amp(12q13q15)/amp(12q13q15)/amp(7p13
)/amp(7p13)/amp(7p13)/amp(7p13)/amp(7p13,11p)/amp(7p13)/amp(7p13)/amp(8q)/amp(9p)/amp(4p)/amp(5p)
/amp(7p13)
Schlegel J, Scherthan H, Arens N, Stumm G, Kiessling M (1996) Detection of complex genetic alterations in
human glioblastoma multiforme using comparative genomic hybridization. J Neuropathol Exp Neurol 1996,
55:81-87.
GLIOBLASTOMA, MULTIFORME (6/20 cases)
amp(7p12,7q21)/amp(12q14q15)/amp(7p12)/amp(8q24.1,11q13,11q22q23,12q14q15)/amp(7p12)/amp(7p12)
Weber RG, Sommer C, Albert FK, Kiessling M, Cremer T: Clinically distinct subgroups of glioblastoma
multiforme studied by comparative genomic hybridization. Lab Invest 1996, 74:108-119.
GLIOBLASTOMA MULTIFORME, PRIMARY (0/20 cases)
Kim DH, Mohapatra G, Bollen A, Waldman FM, Feuerstein BG: Chromosomal abnormalities in glioblastoma
multiforme tumors and glioma cell lines detected by comparative genomic hybridization. Int J Cancer 1995,
60:812-819.
7.1.1.3
7.1.1.3
7.1.1.3
7.1.1.3
7.1.1.3
GLIOBLASTOMA MULTIFORME, PRIMARY (?/72 cases)
Comment: Number of cases was not clearly defined, but amplifications were present at 1p34.1p36.1,
1p36.1pter, 1q32, 2p23p25, 3q27q29, 4p15.1pter, 4q12, 4q12q13, 4q23q27, 7p11.2p13, 7p21p22, 7q11.2,
7q21, 7q21q22, 7q22, 7q22q31, 7q34q36, 11q13q14, 12p13, 12q13q15, 12q13q21, 17q22qter, 17q24qter,
19q13.1q13.2, and 20p11.2p12.
Mohapatra G, Bollen AW, Kim DH, Lamborn K, Moore DH, Prados MD, Feuerstein BG: Genetic analysis of
glioblastoma multiforme provides evidence for subgroups within the grade. Genes Chromosomes Cancer
1998, 21:195-206.
GLIOBLASTOMA MULTIFORME, RECURRENT (0/10 cases)
Kim DH, Mohapatra G, Bollen A, Waldman FM, Feuerstein BG: Chromosomal abnormalities in glioblastoma
multiforme tumors and glioma cell lines detected by comparative genomic hybridization. Int J Cancer 1995,
60:812-819.
GLIOBLASTOMA MULTIFORME, RECURRENT (?/25 cases)
Comment: Number of cases was not clearly defined, but amplifications were present at 1q32, 2p23p25,
3q26.3q29, 5p12p13, 7p11.2p12, 9p12p13, 11p15, 12q13q15, 14q12q21, 15q11.2q13, 17q24q25, and Yp.
Mohapatra G, Bollen AW, Kim DH, Lamborn K, Moore DH, Prados MD, Feuerstein BG: Genetic analysis of
glioblastoma multiforme provides evidence for subgroups within the grade. Genes Chromosomes Cancer
1998, 21:195-206.
GLIOBLASTOMA MULTIFORME (?/5 cases)
Comment: Amplifications were not determined, but FISH indicated amplifications of CDK4, MDM2, and
GLI/CHOP genes in two tumors, and amplifications of the PDGFR gene in one tumor.
Mao X, Hamoudi RA: Molecular and cytogenetic analysis of glioblastoma multiforme. Cancer Genet Cytogenet
2000, 122:87-92.
GLIOBLASTOMA MULTIFORME (2/10 cases)
amp(7p21)/amp(7p11.2)
Romeike BFM, Jung V, Feiden W, Moringlane JR, Zang KD, Urbschat SM: Distribution of epidermal growth
factor receptor protein correlates with gain in chromosome 7 revealed by comparative genomic hybridization
after microdissection in glioblastoma multiforme. Pathol Res Pract 2001, 197:427-431.
7.1.1.3
7.1.1.3
7.1.1.3
7.1.1.3
GLIOBLASTOMA MULTIFORME (7/22 cases)
amp(7)/amp(7)/amp(7)/amp(18q)/amp(7)/amp(7p)/amp(7,20p)
Wiltshire RN, Rasheed BK, Friedman HS, Friedman AH, Bigner SH: Comparative genetic patterns of
glioblastoma multiforme: potential diagnostic tool for tumor classification. Neuro-oncol 2000, 2:164-173.
Glioblastoma, anaplastic
1q32
5 (1/21),
16,19
astrocytoma, low-grade
3(1/33)
astrocytoma
4qcen-q13
10 (2/21)
19
7pcen-p13
10 (2/21),
16,19
6(2/33)
7pcen-p14
10 (2/21),
16,19
9(3/33)
7pcen-p15.1
3 (1/33)
16
7q32-qter
5 (1/21)
19
7q33-qter
3 (1/33)
16
Glioblastoma, anaplastic 1p35-pter
44 (7/16)
23
astrocytoma
16pcen-p12
19 (3/16)
23
19q13
44 (7/16)
23
22q12-q13.2
44 (7/16)
23
None
0 (0/16)
23
GLIOBLASTOMA (6/7 cases)
amp(4q12)/amp(1q32.1,7p12,7q21.2q21.3)/amp(7p12)/amp(7p12,7q21.1)/amp(7p12)/amp(4q12,22q12)
Schröck E, Thiel G, Lozanova T, du Manoir S, Meffert M-C, Jauch A, Speicher MR, Nürnberg P, Vogel S,
Jänisch W, Donis-Keller H, Ried T, Witkowski R, Cremer T: Comparative genomic hybridization of human
malignant gliomas reveals multiple amplification sites and nonrandom chromosomal gains and losses. Am J
Pathol 1994, 144:1203-1218.
7.1.1.3
7.1.1.3
7.1.1.3
7.1.1.3
7.1.1.3
GLIOBLASTOMA (4/11 cases)
amp(7p11p13)/amp(4q12q13)/amp(7p11p13)/amp(7p11p13)
Harada K, Nishizaki T, Ozaki S, Kubota H, Ito H, Sasaki K: Intratumoral cytogenetic heterogeneity detected by
comparative genomic hybridization and laser scanning cytometry in human gliomas. Cancer Res 1998,
58:4694-4700.
GLIOBLASTOMA (8/14 cases)
amp(7p11.2p14)/amp(7p11.2p15,20p,20q12q13.2)/amp(7p11.2p14)/amp(7p11.2p13)/amp(7p11.2p13,12q13q
21)/amp(8q24.1qter,9q22qter,16q21qter)/amp(8q23q24.2,12q23qter,15q24qter,20q)/amp(19q13.2qter)
Nishizaki T, Ozaki S, Harada K, Ito H, Arai H, Beppu T, Sasaki K: Investigation of genetic alterations
associated with the grade of astrocytic tumor by comparative genomic hybridization. Genes Chromosomes
Cancer 1998, 21:340-346.
GLIOBLASTOMA (7/20 cases)
amp(7p)/amp(7p)/amp(7p)/amp(8q)/amp(7p)/amp(7p)/amp(8q)
Nishizaki T, Kubota H, Harada K, Harada K, Ito H, Suzuki M, Sasaki K: Clinical evidence of distinct subgroups
of astrocytic tumors defined by comparative genomic hybridization. Hum Pathol 2000, 31:608-614.
GLIOBLASTOMA (7/19 cases)
amp(7p11.2p12)/amp(7p11.1p13)/amp(15q24q26.3,20p11.2p12)/amp(12q13.3q21.2)/amp(7p11.2p12)/amp(7p
11.2p12)/amp(7p11.2p12)
Brunner C, Jung V, Henn W, Zang KD, Urbschat S: Comparative genomic hybridization reveals recurrent
enhancements on chromosome 20 and in one case combined amplification sites on 15q24q26 and 20p11p12
in glioblastomas. Cancer Genet Cytogenet 2000, 121:124-127.
GLIOBLASTOMA (?/1 case)
Comment: Amplifications were not determined.
Kros JM, van Run PRWA, Alers JC, Avezaat CJJ, Luider TM, van Dekken H: Spatial variability of genomic
aberrations in a large glioblastoma resection specimen. Acta Neuropathol 2001, 102:103-109.
7.1.1.3
7.1.1.3
7.1.1.3
7.1.1.3
7.1.1.3
GLIOBLASTOMA (4/10 cases)
amp(7p15p21)/amp(7p11p13,8q23q24.1)/amp(7q,Xp11.3pter)/amp(4q11q13,8q23q24,12q13q15)
Comment: Amplification threshold ratio ≥1.6.
Gilhuis HJ, Bernsen HJJA, Jeuken JWM, Wesselin P, Sprenger SHE, Kerstens HMJ, Wiegant J, Boerman RH:
The relationship between genetic aberrations as detected by comparative genomic hybridization and
vascularization in glioblastoma xenografts. J Neuro-Oncol 2001, 51:121-127.
GLIOBLASTOMA (5/38 cases)
amp(4q12q21,12q15q21,12q13q21)/amp(6p21,12q13q15)/amp(7p12,12q13q21)/amp(7p12,14q32)/amp(12q1
3q21)
Actor B, Cobbers JM, Büschges R, Wolter M, Knobbe CB, Lichter P, Reifenberger G, Weber RG:
Comprehensive analysis of genomic alterations in gliosarcoma and its two tissue components. Genes
Chromosomes Cancer 2002, 34:416-427.
GLIOBLASTOMA (0/1 case)
Zuber MA, Krupp W, Holland H, Froster UG: Characterization of chromosomal aberrations in a case of
glioblastoma multiforme combining cytogenetic and molecular cytogenetic techniques. Cancer Genet
Cytogenet 2002, 138:111-115.
GLOBLASTOMA (?/39 cases)
Comment: Number of cases was not clearly defined, but amplifications were found at 1q32.1q41, 4p14pter,
6q21.1q22.3, 7q23qter, 7q22q31.3, 7p11.2p14, and 12q14q22,19 in short-term survivors and at 1q31q32.3,
2p23pter, 2q32.1q35, 4p11q21.1, 7, 7p12p15.2, 8q24.1qter, 9p13pter, and 13q22q32 in long-term survivors.
Burton EC, Lamborn KR, Feuerstein BG, Prados M, Scott J, Forsyth P, Passe S, Jenkins RB, Aldape KD:
Genetic aberrations defined by comparative genomic hybridization distinguish long-term from typical survivors
of glioblastoma. Cancer Res 2002, 62:6205-6210.
GLIOBLASTOMA (6/22 cases)
amp(8q)/amp(5q14qter)/amp(12p)/amp(5p,6p,7p,8)/amp(2p22pter,7)/amp(3q,5p)
Fan X, Aalto Y, Sanko SG, Knuutila S, Klatzmann D, Castresana JS: Genetic profile, PTEN mutation and
therapeutic role of PTEN in glioblastomas. Int J Oncol 2002, 21:1141-1150.
7.1.1.3
7.1.1.3
GLIOBLASTOMA, GIANT CELL (?/1 case)
Comment: Amplifications were not determined.
Sabel M, Reifenberger J, Weber RG, Reifenberger G, Schmitt HP: Long-term survival of a patient with giant
cell glioblastoma. Case report. J Neurosurg 2001, 94:605-611.
GLIOBLASTOMA MULTIFORME
ADDITIONAL LITERATURE
Zuber MA, Koschny R, Koschny T, Froster UG: Gain of chromosome 7 detected by comparative genomic
hybridization accumulates with age in patients with glioblastoma multiforme. Cancer Genet Cytogenet 2002,
136:92-94.
7.1.1.3
Glioblastoma multiforme: 268 amplifications out of 609 cases
7.1.1.4
PILOCYTIC ASTROCYTOMA (?/48 cases)
Comment: Amplifications were not determined.
Sanoudou D, Tingby O, Ferguson-Smith MA, Collins VP, Coleman N: Analysis of pilocytic astrocytoma by
comparative genomic hybridization. Br J Cancer 2000, 82:1218-1222.
7.1.1.5
PLEOMORPHIC XANTHOASTROCYTOMA (?/3 cases)
Comment: Amplifications were not determined.
Yin X-L, Hui AB-Y, Liong EC, Ding M, Chang AR, Ng H-K: Genetic imbalances in pleomorphic
xanthoastrocytoma detected by comparative genomic hybridization and literature review. Cancer Genet
Cytogenet 2002, 132:14-19.
7.1.2
Oligodendroglioma, welldifferentiated
1p
74 (17/23)
25
4q32-qter
22 (5/23)
3 (1/33)
3 (1/33)
3 (1/33)
3 (1/33)
5 (1/21)
3 (1/33)
3 (1/33)
3 (1/33)
3 (1/33)
3 (1/33)
17 (4/23)
3 (1/33)
3 (1/33)
5 (1/21)
70 (16/23)
25
16
16
16
16
19
16
16
16
16
16
25
16
16
19
25
8q23-q24.2
8q24
9p22-pter
9q22-qter
11pcen-p13
11q13
12p12-pter
12q13-q14
12q13.2-q21.2
12q23-qter
14q21-q23
15q24-qter
16q21-qter
17q22-qter
19q
19q13.2-q13.4
20q12-q13.2
20
Y
None
7.1.2
Oligodendroglioma,
anaplastic
1pcen-p31
1p31.1-pter
4p
4q21.2-q24
4q31
4q32-qter
6p21.3-pter
9p11-p13
9p21-pter
9q34
10p
10q22.2-q23.2
10q25-qter
10
13q
14q21-q24
14q24-qter
15q21.3
15q21
15q22.3-23
16q
18pter-q11
19q
22q13
22
3 (1/33)
3 (1/33)
3 (1/33)
22 (5/23)
0 (0/4)
58 (7/12)
89 (21/24)
29 (7/24)
42 (10/24)
38 (9/24)
38 (9/24)
13 (3/24)
38 (9/24)
33 (4/12)
13 (3/24)
13 (3/24)
13 (3/24)
13 (3/24)
42 (5/12)
13 (3/24)
13 (3/24)
25 (3/12)
33 (8/24)
33 (4/12)
33 (8/24)
25 (3/12)
6/24
79 (19/24),
50(6/12)
13 (3/24)
25 (3/12)
16
16
16
25
24
26
25
25
25
25
25
25
25
26
25
25
25
25
26
25
25
26
25
26
25
26
25
25,26
25
26
7.1.2
Oligodendroglioma
Xq21.1
Y
1p13.2-p31.1
1p31-pter
1p33-p36.1
1q32.1
2q24-q31
4q28-qter
4
6q
8q23
9p
10q22.3-qter
14q21
14q24-qter
15qcen-q21
16p
18
19q13
19q13.3-qter
22
7.1.2
Oligodendroglioma
Additional
references
7.1.2
OLIGODENDROGLIOMA (?/14 cases)
Comment: Amplifications were not determined
13 (3/24)
21 (5/24)
46 (6/13)
94 (16/17)
39 (5/13)
8 (1/13)
23 (3/13)
23 (3/13)
18 (3/17)
23 (3/13)
6 (1/17)
18 (3/17),
23(3/13)
39 (5/13)
31 (4/13)
23 (3/13)
23 (3/13)
31 (4/13)
23 (3/13)
94 (16/17)
46 (6/13)
23 (3/13)
25
25
27
26
27
27
27
27
26
27
26
26,27
27
27
27
27
27
27
26
27
27
4
Cowell JK, Barnett GH, Nowak NJ: Characterization of the 1p/19q chromosomal loss in oligodendrogliomas
using comparative genomic hybridization arrays (CGHa). J Neuropathol Exp Neurol 2004, 63:151–158.
7.1.2
7.1.2
OLIGODENDROGLIAL TUMORS (?/5 cases)
Comment: Amplifications were not determined.
Jeuken J, Sprenger SH, Vermeer H, Kappelle AC, Boerman RH, Wesseling P: Chromosomal imbalances in
primary oligodendroglial tumors and their recurrences: clues about malignant progression detected using
comparative genomic hybridization. J Neurosurg 2002, 96:559-564.
OLIGODENDROGLIOMA
ADDITIONAL LITERATURE
Fallon KB, Palmer CA, Roth KA, Nabors LB, Wang W, Carpenter M, Banerjee R, Forsyth P, Rich K, Perry A:
Prognostic value of 1p, 19q, 9p, 10q, and EGFR-FISH analyses in recurrent oligodendrogliomas. J
Neuropathol Exp Neurol 2004, 63:314-322.
7.1.2
Oligodendroglioma: 18 amplifications out of 130 cases
7.1.3
OLIGO-ASTROCYTIC TUMOUR (8/39 cases)
amp(7p11p13)/amp(7p11p13)/amp(7p11p13)/amp(7p11p14)/amp(12q13q22)/amp(10p)/amp(7p11p13)/amp(9
p)
Comment:
Amplifications threshold ratio ≥ 1.6
0/11 low-grade oligo-astrocytomas
8/28 high-grade oligo-astrocytomas:
amp(7p11p13)/amp(7p11p13)/amp(7p11p13)/amp(7p11p14)/amp(12q13q22)/amp(10p)/amp(7p11p13)/amp(9
p)
Jeuken JWM, Sprenger SHE, Boerman RH, von Deimling A, Teepen HLJM, van Overbeeke JJ, Wesseling P:
Subtyping of oligo-astrocytic tumours by comparative genomic hybridization. J Pathol 2001, 194:81-87.
7.1.3
Oligo-astrocytic tumors: 8 amplifications out of 39 cases
7.1.4
Ependymoma primary
(childhood)
6q
22 (5/23)
3
22q
X
17 (4/23)
26 (6/23)
3
3
3
4
None
Additional
references
7.1.4
Ependymoma
7.1.4
EPENDYMOMA (?/77 cases)
Comment: Number of cases was not clearly defined, but amplifications were found at 6q27, 13q33q34,
17q21qter, and 19q13.
7.1.4
7.1.4
7.1.4
7.1.4
Carter M, Nicholson J, Ross F, Crolla J, Allibone R, Balaji V, Perry R, Walker D, Gilbertson R, Ellison DW:
Genetic abnormalities detected in ependymomas by comparative genomic hybridization. Br J Cancer 2002,
86:929-939.
EPENDYMOMA, INTRACRANIAL (0/24 cases)
Hirose Y, Aldape K, Bollen A, James CD, Brat D, Lamborn K, Berger M, Feuerstein BG: Chromosomal
abnormalities subdivide ependymal tumors into clinically relevant groups. Am J Pathol 2001, 158:1137-1143.
EPENDYMOMA, INTRACRANIAL (?/1 case)
Comment: Amplifications were not determined.
Granzow M, Popp S, Weber S, Schoell B, Holtgreve-Grez H, Senf L, Hager D, Boschert J, Scheurlen W, Jauch
A: Isochromosome 1q as an early genetic event in a child with intracranial ependymoma characterized by
molecular cytogenetics. Cancer Genet Cytogenet 2001, 130:79-83.
EPENDYMOMA, SPINAL CORD (0/20 cases)
Hirose Y, Aldape K, Bollen A, James CD, Brat D, Lamborn K, Berger M, Feuerstein BG: Chromosomal
abnormalities subdivide ependymal tumors into clinically relevant groups. Am J Pathol 2001, 158:1137-1143.
ROSETTED GLIONEURONAL TUMOR (?/1 cases)
Comment: Amplifications were not determined.
Keyvani K, Rickert CH, von Wild K, Paulus W: Rosetted glioneural tumor: a case with proliferating neuronal
nodules. Acta Neuropathol 2001, 101:525-528.
7.1.4
7.1.4
7.1.4
7.1.4
7.1.4
EPENDYMOMA, PRIMARY (?/28 cases)
Comment: Amplifications were not determined.
Zheng P-P, Pang JC, Hui AB, Ng HK: Comparative genomic hybridization detects losses of chromosomes 22
and 16 as the most common recurrent genetic alterations in primary ependymomas. Cancer Genet Cytogenet
2000, 122:18-25.
EPENDYMOMA, CHILDHOOD (2/37 cases)
amp(1q21q31,8q21q24)/amp(1q24q31,8q13q23,9p)
Comment:
2/29 ependymomas:
amp(1q21q31,8q21q24)/amp(1q24q31,8q13q23,9p)
0/1 subependymoma
0/7 anaplastic ependymomas
Ward S, Harding B, Wilkins P, Harkness W, Hayward R, Darling JL, Thomas DGT, Warr T: Gain of 1q and loss
of 22 are the most common changes detected by comparative genomic hybridisation in paediatric
ependymoma. Genes Chromosomes Cancer 2001, 32:59-66.
EPENDYMOMA, PEDIATRIC INTRACRANIAL (16/53 cases: 42 primary, 11 recurrent)
amp(1q)/amp(18)/amp(1q)/amp(1q)/amp(1q)/amp(1q)/amp(1q)/amp(8)/amp(18)/amp(1q,10p)/ amp(1q)
/amp(1q)/ amp(1q)/amp(1q)/ amp(1q)/amp(1q)
Dyer S, Prebble E, Davison V, Davies P, Ramani P, Ellison D, Grundy R: Genomic imbalances in pediatric
intracranial ependymomas define clinically relevant groups. Am J Pathol 2002, 161:2133-2141.
EPENDYMOMA, PEDIATRIC (0/13 cases)
Grill J, Avet-Loiseau H, Lellouch-Tubiana A, Sévenet N, Terrier-Lacombe MJ, Vénuat AM, Doz F, Sainte-Rose
C, Kalifa C, Vassal G: Comparative genomic hybridization detects specific cytogenetic abnormalities in
pediatric ependymomas and choroid plexus papillomas. Cancer Genet Cytogenet 2002, 136:121-125.
EPENDYMOMA, ANAPLASTIC (4/22 cases)
amp(2p23p24)/amp(2p23p24)/amp(2p23p24)/amp(2p23p24)
Scheil S, Bruderlein S, Eicker M, Herms J, Herold-Mende C, Steiner H-H, Barth TFE, Moller P: Low frequency
of chromosomal imbalances in anaplastic ependymomas as detected by comparative genomic hybridization.
Brain Pathol 2001, 11:133-143.
7.1.4
EPENDYMAL TUMORS (2/20 cases)
amp(12q13q15)/amp(2pterp22)
Jeuken JW, Sprenger SH, Gilhuis J, Teepen HL, Grotenhuis AJ, Wesseling P: Correlation between
localization, age, and chromosomal imbalances in ependymal tumours as detected by CGH. J Pathol
2002,197:238-244.
7.1.4
Ependymoma: 32 amplifications out of 318 cases
7.1.5
CHOROID PLEXUS TUMOR (21/49 cases)
amp(7,8)/amp(12)/amp(7,9)/amp(5p,5q11.2q23,8)/amp(20)/amp(5,7,9,15)/amp(15)/amp(15)/amp(9)/amp(7)/a
mp(9)/amp(7)/amp(1p12p31,1q,2,12p,12q12q21,13,18)/amp(1,2p,3q25qter,10,12,14,18,20,21)/amp(2p22pter,
2q24q31,4q,7q11.2q32,14,20q)/amp(2p22pter,2q24q31,8q21.1qter,20q)/amp(1)/amp(1,5p,10q23qter,20)/amp(
1p31pter,1q21q25,4p,4q12q26,8,12,14,17q,20,21)/amp(8,20)/amp(9p,12)
Comment:
12/34 choroid plexus papillomas:
amp(7,8)/amp(12)/amp(7,9)/amp(5p,5q11.2q23,8)/amp(20)/amp(5,7,9,15)/amp(15)/amp(15)/amp(9)/amp(7)/a
mp(9)/amp(7)
9/15 choroid plexus carcinomas:
amp(1p12p31,1q,2,12p,12q12q21,13,18)/amp(1,2p,3q25qter,10,12,14,18,20,21)/amp(2p22pter,2q24q31,4q,7q
11.2q32,14,20q)/amp(2p22pter,2q24q31,8q21.1qter,20q)/amp(1)/amp(1,5p,10q23qter,20)/amp(1p31pter,1q21
q25,4p,4q12q26,8,12,14,17q,20,21)/amp(8,20)/amp(9p,12)
Rickert CH, Wiestler OD, Paulus W: Chromosomal imbalances in choroid plexus tumors. Am J Pathol 2002,
160:1105-1113.
7.1.5
Choroid plexus tumors: 64 amplifications out of 49 cases
7.1.6
Glioma
7.1.6
GLIOMA (0/11 cases)
7.1.6
7.1.6
7.1.6
9q33-q34
16q
19 (3/16)
25 (4/16)
Amplifications not indicated
4
4
4
Perry A, Nobori T, Ru N, Anderl K, Borell TJ, Mohapatra G, Feuerstein BG, Jenkins RB, Carson DA: Detection
of p16 gene deletions in gliomas: a comparison of fluorescence in situ hybridization (FISH) versus quantitative
PCR. J Neuropathol Exp Neurol 1997, 56:999-1008.
GLIOMA (3/11 cases)
amp(7p11.1p12)/amp(7p11.1p12,7q21.2q33)/amp(12p11p12,12q13.2q14)
Patel A, van Meyel DL, Mohapatra G, Bollen A, Wrensch M, Cairncross JG, Feuerstein BG: Gliomas in
families: chromosomal analysis by comparative genomic hybridization. Cancer Genet Cytogenet 1998, 100:7783.
GLIAL TUMOR (1/4 cases)
amp(12q13)
Squire JA, Arab S, Marrano P, Bayani J, Karaskova J, Taylor M, Becker L, Rutka J, Zielenska M: Molecular
cytogenetic analysis of glial tumors using spectral karyotyping and comparative genomic hybridization. Mol
Diagn 2001, 6:93-108.
GLIOMA, FAMILIAL (?/21 cases)
Comment: Number of cases was not clearly defined, but increase a copy numbers (ratio >1.5) were present at
7p21pter, 7p11.2p12, 7q11.2, 7q31qter, 12q12q15, 17q23qter, 19, and 19p13.2pter.
Paunu N, Sallinen S-L, Karhu R, Miettinen H, Sallinen P, Kononen J, Laippala P, Simola KOJ, Helen P,
Haapasalo H: Chromosome imbalances in familial gliomas detected by comparative genomic hybridization.
Genes Chromosomes Cancer 2000, 29:339-346.
7.1.6
7.1.6
7.1.6
GLIOMA, MISCELLANEOUS (6/15 cases)
amp(13q32q34,13q33q34)/amp(7q31,12p13)/amp(13q34)/amp(12p,12q22qter,18p)/amp(12p)/amp(7q31qter,1
2p13)
Comment:
3/5 astrocytomas with progression to glioblastomas:
amp(13q32q34,13q33q34)/amp(7q31,12p13)/amp(13q34)
3/5 astrocytomas with progression to anaplastic astrocytomas:
amp(12p,12q22qter,18p)/amp(12p)/amp(7q31qter,12p13)
0/5 oligodendrogliomas with progression to anaplastic oligodendrogliomas
Weber RG, Sabel M, Reifenberger J, Sommer C, Oberstraß J, Reifenberger G, Kiessling M, Cremer T:
Characterization of genomic alterations associated with glioma progression by comparative genomic
hybridization. Oncogene 1996, 13:983-994.
GANGLIOGLIOMA (?/5 cases)
Comment: Amplifications were not determined.
Yin XL, Hui AB, Pang JC, Poon WS, Ng HK: Genome-wide survey for chromosomal imbalances in
ganglioglioma using comparative genomic hybridization . Cancer Genet Cytogenet 2002, 134:71-76.
GLIOMA
ADDITIONAL LITERATURE
Koschny R, Koschny T, Froster UG, Krupp W, Zuber MA: Comparative genomic hybridization in glioma: a
meta-analysis of 509 cases. Cancer Genet Cytogenet 2002, 135:147-159.
7.1.6
Glioma: 26 amplifications out of 83 cases
7.1.6.1
ASTROBLASTOMA (?/7 cases)
Comment: Amplifications were not determined.
Brat DJ, Hirose Y, Cohen KJ, Feuerstein BG, Burger PC: Astroblastoma: clinicopathologic features and
chromosomal abnormalities defined by comparative genomic hybridization. Brain Pathol 2000, 10:342-352.
7.1.6.3
Glioma, chordoid third
ventricle
None
8q23-qter
7.1.7
Paraganglioma
1p11-p31
3p13-p14
3q
11p14
7.1.7.7
CENTRAL NEUROCYTOMA (?/10 cases)
Comment: Amplifications were not determined.
0 (0/4)
24
3 (1/33)
16
82 (9/11)
36 (4/11)
45 (5/11)
45 (5/11)
49
49
49
49
Yin X-L, Pang JC-S, Hui AB-Y, Ng H-K: Detection of chromosomal imbalances in central neurocytomas by
using comparative genomic hybridization. J Neurosurg 2000, 93:77-81.
7.1.8
Neuroblastoma
1p21-p31
1p35-pter*
2p13-p14
2p23-p25
3
3p21-pter*
3q24-q26
4
4p*
4q33-q35
20 (4/20)
37 (33/90)
3 (1/35)
35 (30/85)
24 (7/29)
24 (9/37)
3 (1/35)
12 (10/84)
12 (7/60)
4 (1/29)
MYCN
34
34-37
35
34-36,38
36.
34,37,39
35
34-36
34,36,39
36
6p11-p22
9
9p*
10
10p12-p13
10q23-qter*
11
11q13-qter*
13q22-qter
14q
X
4 (1/29)
10 (3/29)
19 (6/31)
15 (6/40)
50 (3/6)
13 (8/61)
20 (7/35)
12 (11/90)
19 (5/26)
34 (10/29)
21 (13/61)
Additional reference
7.1.8
Neuroblastoma
1p33-pter
1p35-p36
2p23-p24
3p22-pter
3q26.2-qter
4p
9p21-pter
10p
10q23-qter
11p15
11q13
11q21-q25*
14q31-qter
16q21-qter
19q13
21q22
Xq22-qter
25 (9/36)
22 (6/27)
33 (9/27),
20(4/20),
17(6/36)
25 (9/36)
8 (3/36)
14 (5/36)
19 (7/36)
8 (3/36)
11 (4/36)
8 (3/36)
3 (1/36)
22 (6/27),
28(10/36)
31 (11/36)
8 (3/36)
8 (3/36)
8 (3/36)
17 (6/36)
36
36
34,39
36,39
37
34,35,37
36,37
34-37
34,37
36
34,36,39,40
41
42
43
42-44
42
42
42
42
42
42
42
42
42,43
42
42
42
42
42
Not determined
7.1.8
7.1.8
7.1.8
7.1.8
37
NEUROBLASTOMA (8/24 cases)
amp(2p24,12q13q15)/amp(2p24,11q12q14)/amp(2p24,7p11.2p21,12q22qter)/amp(2p24)/amp(2p24)/amp(2p2
4,17q)/amp(2p24,17q)/amp(11q12q14)
Breen CJ, O’Meara A, McDermott M, Mullarkey M, Stallings RL: Coordinate deletion of chromosome 3p and
11q in neuroblastoma detected by comparative genomic hybridization. Cancer Genet Cytogenet 2000, 120:4449.
NEUROBLASTOMA (10/16 cases)
amp(2p23p24)/amp(2p23p24)/amp(2p23p24)/amp(2p23p24)/amp(2p23p24,12q14q21,12q24.2q24.3)/amp(2p1
3p15,2p23p24)/amp(11p15,12p13,16p13.3,20p13)/amp(16q22q23)/amp(10p15)/amp(8p12)
Comment: Cell lines were studied.
Roy NV, Limbergen HV, Vandesompele J, Gele MV, Poppe B, Salwen H, Laureys G, Manoel N, De Paepe A,
Speleman F: Combined M-FISH and CGH analysis allows comprehensive description of genetic alterations in
neuroblastoma cell lines. Genes Chromosomes Cancer 2001, 32:126-135.
NEUROBLASTOMA (?/9 cases)
Comment: Number of cases was not clearly defined, but high-level amplifications were observed at 17q.
Janoueix-Lerosey I, Penther D, Thioux M, de Cremoux P, Derre J, Ambros P, Vielh P, Benard J, Aurias A,
Delattre O: Molecular analysis of chromosome arm 17q gain in neuroblastoma. Genes Chromosomes Cancer
2000, 28:276-284.
NEUROBLASTOMA (?/204 cases)
Comment: Number of cases was not clearly defined, but different CGH studies identified seven new regions of
amplifications: 2p23, 3q24q26, 4q33q35, 6p11p12, 10p13, 10p25, and 11q13.
Vandesompele J, Speleman F, Van Roy N, Laureys G, Brinkschmidt C, Christiansen H, Lampert F, Lastowska
M, Bown N, Pearson A, Nicholson JC, Ross F, Combaret V, Delattre O, Feuerstein BG, Plantaz D: Multicentre
analysis of patterns of DNA gains and losses in 204 neuroblastoma tumors: how many genetic subgroups are
there? Med Pediatr Oncol 2001, 36:5-10.
7.1.8
7.1.8
7.1.8
7.1.8
NEUROBLASTOMA (3/27 cases)
amp(2p21p25)/amp(2p21p25)/amp(2p21p25)
Comment:
3/18 poor-risk neuroblastomas:
amp(2p21p25)/amp(2p21p25)/amp(2p21p25)
0/9 non-poor-risk neuroblastomas
Vettenranta K, Aalto Y, Wikström S, Knuutila S, Saarinen-Pihkala U: Comparative genomic hybridization
reveals changes in DNA-copy number in poor-risk neuroblastoma. Cancer Genet Cytogenet 2001, 125:125130.
NEUROBLASTOMA (29/83 cases)
amp(2p24p25)/amp(4q34q35)/amp(2p24p25)/amp(2p24p25)/amp(11q13)/amp(2p24p25)/amp(2p24p25)/amp(
2p24p25)/amp(2p24p25)/amp(10p13,14q12q13)/amp(2p24p25)/amp(2p24p25)/amp(2p24p25)/amp(2p24p25)/
amp(2p24p25)/amp(2p24p25)/amp(2p24p25)/amp(2p24p25)/amp(2p24p25)/amp(17q12q21)/amp(2p24p25)/a
mp(2p24p25)/amp(2p24p25)/amp(4q33q35)/amp(2p24p25,10q25)/amp(2p24p25)/amp(2p24p25)/amp(2p24p2
5)/amp(2p24p25)
Plantaz D, Vandesompele J, Van Roy N, Lastowska M, Bown N, Combaret V, Favrot MC, Delattre O, Michon
J, Bénard J, Hartmann O, Nicholson JC, Ross FM, Brinkschmidt C, Laureys G, Caron H, Matthay KK,
Feuerstein BG, Speleman F: Comparative genomic hybridization (CGH) analysis of stage 4 neuroblastoma
reveals high frequency of 11q deletion in tumors lacking MYCN amplification. Int J Cancer 2001, 91:680-686.
NEUROBLASTOMA (?/35 cases)
Comment: Amplifications were not determined.
Iehara T, Hamazaki M, Sawada T: Cytogenetic analysis of infantile neuroblastomas by comparative genomic
hybridization. Cancer Lett 2002, 178:83-89.
GANGLIONEUROBLASTOMA (?/5 cases)
Comment: Amplifications were not determined.
Toraman AD, Keser I, Lüleci G, Tunali N, Gelen T: Comparative
ganglioneuroblastomas. Cancer Genet Cytogenet 2002, 132:36-40.
genomic
hybridization
in
7.1.8
7.1.8
7.1.8
ESTHESIONEUROBLASTOMA (?/3 cases)
Comment: Number of cases was not clearly defined, but amplifications were found at 8, 15q, and 22q.
Riazimand SH, Brieger J, Jacob R, Welkoborsky HJ, Mann WJ: Analysis of cytogenetic aberrations in
esthesioneuroblastomas by comparative genomic hybridization. Cancer Genet Cytogenet 2002,136:53-57.
NEUROBLASTOMA
ADDITIONAL LITERATURE
Bown N, Lastowska M, Cotterill S, O'Neill S, Ellershaw C, Roberts P, Lewis I, Pearson ADJ: 17q gain in
neuroblastoma predicts adverse clinical outcome. U.K. Cancer Cytogenetics Group and the U.K. Children's
Cancer Study Group. Med Pediatr Oncol 2001, 36:14-19.
NEUROBLASTOMA
ADDITIONAL LITERATURE
Brinkschmidt C, Christiansen H, Terpe HJ, Simon R, Lampert F, Boecker W, Dockhorn-Dworniczak B: Distal
chromosome 17 gains in neuroblastomas detected by comparative genomic hybridization (CGH) are
associated with a poor clinical outcome. Med Pediatr Oncol 2001, 36:11-13.
7.1.8
Neuroblastoma: 129 amplifications out of 580 cases
7.1.9.1
PINEOCYTOMA (0/3 cases)
Rickert CH, Simon R, Bergmann M, Dockhorn-Dworniczak B, Paulus W: Comparative genomic hybridization in
pineal parenchymal tumors. Genes Chromosomes Cancer 2001, 30:99-104.
7.1.9.2
PINEOBLASTOMA (2/3 cases)
amp(5q21qter)/amp(1q12qter,5p13.2p14,6p12pter,14q21qter)
Rickert CH, Simon R, Bergmann M, Dockhorn-Dworniczak B, Paulus W: Comparative genomic hybridization in
pineal parenchymal tumors. Genes Chromosomes Cancer 2001, 30:99-104.
7.1.9.3
PINEAL PARENCHYMAL TUMORS OF INTERMEDIATE DIFFERENTIATION (0/3 cases)
Rickert CH, Simon R, Bergmann M, Dockhorn-Dworniczak B, Paulus W: Comparative genomic hybridization in
pineal parenchymal tumors. Genes Chromosomes Cancer 2001, 30:99-104.
7.1.10.3 Medulloblastoma
2p24
2q35-qter
4
5p15.3
5q34-qter
6q
8p
8q24
9p
9q22-qter
10q25-qter
11p
11q22.3
13q32-qter
15
11 (2/18)
11 (3/27)
11 (3/27)
7 (2/27)
11 (3/27)
15 (4/27)
33 (9/27)
17 (3/18)
11 (3/27)
13 (6/45)
41 (11/27)
41 (11/27)
4 (1/27)
15 (4/27)
11 (3/27)
MYCN
MYC
28
29
29
29
29
29
29
28
29
28,29
29
29
29
29
29
7.1.10.3 Medulloblastoma,
childhood
16q
17p
20p
20q13.1-qter
21
22
Y
3p
3p21.2-p21.3
3p24.2-pter
8p
8q21.3-qter
9p13-q21
10q
11q23.1-qter
12p
13q
15q11-q14
17p
17q21-qter
20
21q
21q22
X
7.1.10.3 Medulloblastoma
1p32-p34
1p36
2q14-q21
3p21.2-p23
3q23-q26
3q
4p16
37 (10/27)
31 (14/45)
19 (5/27)
22 (6/27)
26 (7/27)
19 (5/27)
26 (7/27)
26 (6/23)
29
28,29
29
29
29
29
29
30
4 (1/23)
4 (1/23)
30 (7/23)
17 (1/6)
22 (5/23)
35 (8/23)
39 (9/23)
4 (1/23)
13 (3/23)
17 (4/23)
35 (8/23)
17 (1/6)
13 (3/23)
17 (4/23)
17 (1/6)
26 (6/23)
5 (2/43)
7 (3/43)
3 (1/31)
3 (1/31)
7 (3/43)
10 (3/31)
2 (1/43)
30
30
30
31
30
30
30
30
30
30
30
31
30
30
31
30
32
32
33
32
32
33
32
4q26
4q28
4q32-q34
5q33-qter
6p21
6qcen-q21
6q23.3-q24
8p21-pter
8p
8q12-qter
8q21-q22.1
9q22
9q22-q31
10q21-qter*
11p14
11p
11q22
12p13
13qcen-q21
13q33
14qcen-q12
14q24-q31
16q13-q22
16q21-qter
17p
20q13.2-qter
22
Xp22
Xqcen-q25
X
13 (4/31)
3 (1/31)
16 (5/31)
13 (4/31)
2 (1/43)
9 (4/43)
3 (1/31)
29 (9/31)
12 (5/43)
26 (8/31)
12 (5/43)
19 (6/31)
9 (4/43)
23 (7/31),
14(6/43)
23 (7/31)
12 (5/43)
23 (7/31)
3 (1/31)
10 (3/31)
3 (1/31)
10 (3/31)
13 (4/31)
19 (6/31)
16 (7/43)
39 (12/31),
23(10/43)
12 (5/43)
13 (4/31)
16 (5/31)
10 (3/31)
23 (10/43)
33
33
33
33
32
32
32
33
32
33
32
33
32
32,33
33
32
33
33
33
33
33
33
33
32
32,33
32
33
33
33
32
7.1.10.3 Medulloblastoma
Y
10q23-q25
23 (7/31)
38 (3/8)
Amplifcations not indicated
Additional references
33
4
4
4
7.1.10.3 MEDULLOBLASTOMA (1/8 cases)
amp(8q23)
Bayani J, Zielenska M, Marrano P, Kwan Ng Y, Taylor MD, Jay V, Rutka JT, Squire JA: Molecular cytogenetic
analysis of medulloblastomas and supratentorial primitive neuroectodermal tumors by using conventional
banding, comparative genomic hybridization, and spectral karyotyping. J Neurosurg 2000, 93:437-448.
7.1.10.3 MEDULLOBLASTOMA (2/10 cases)
amp(2p21p24)/amp(2p21p24)
Gilhuis HJ, Anderl KL, Boerman RH, Jeuken JM, James CD, Raffel C, Scheithauer BW, Jenkins RB:
Comparative genomic hybridization of medulloblastomas and clinical relevance: eleven new cases and a
review of the literature. Clin Neurol Neurosurg 2000, 102:203-209.
7.1.10.3 MEDULLOBLASTOMA (?/27 cases)
Comment: Amplifications were not determined.
Nicholson J, Wickramasinghe C, Ross F, Crolla J, Ellison D: Imbalances of chromosome 17 in
medulloblastomas determined by comparative genomic hybridization and fluorescence in situ hybridisation.
Mol Pathol 2000, 53:313-319.
7.1.10.3 MEDULLOBLASTOMA (?/24 cases)
Comment: Amplifications were not determined.
Yin XL, Pang JC, Ng HK: Identification of a region of homozygous deletion on 8p22-23.1 in medulloblastoma.
Oncogene 2002, 21:1461-1468.
7.1.10.3 MEDULLOBLASTOMA, ANAPLASTIC (?/18 cases)
Comment: Number of cases was not clearly defined, but high-level amplifications were observed at 1p12p22,
1q21qter, 1q, 2p16pter, 2p22, 2p22pter, 2p23, 2p23pter, 2q14q22, 2, 3p22p23, 5, 7q, 8q24, 8, 9p,
10p11.2pter, 12q24, 17p11p12, 17q, 18 and Xp11.
Eberhart CG, Kratz JE, Schuster A, Goldthwaite P, Cohen KJ, Perlman EJ, Burger PC: Comparative genomic
hybridization detects an increased number of chromosomal alterations in large cell/anaplastic
medulloblastomas. Brain Pathol 2002, 12:36-44.
7.1.10.3 MEDULLOBLASTOMA, NON ANAPLASTIC (?/15 cases)
Comment: Number of cases was not clearly defined, but high-level amplifications were observed at 5p14pter,
5, 7, 12q24, 17q, and 18.
Eberhart CG, Kratz JE, Schuster A, Goldthwaite P, Cohen KJ, Perlman EJ, Burger PC: Comparative genomic
hybridization detects an increased number of chromosomal alterations in large cell/anaplastic
medulloblastomas. Brain Pathol 2002, 12:36-44.
7.1.10.3 MEDULLOBLASTOMA, PRIMARY LARGE CELL (1/1 case)
amp(2p24p25, 2q12q22,17p11)
Reardon DA, Jenkins JJ, Sublett JE, Burger PC, Kun LK: Multiple genomic alterations including N-myc
amplification in a primary large cell medulloblastoma. Pediatr Neurosurg 2000, 32:187-191.
7.1.10.3 MEDULLOBLASTOMA
ADDITIONAL LITERATURE
Brown HG, Kepner JL, Perlman EJ, Friedman HS, Strother DR, Duffner PK, Kun LE, Goldthwaite PT, Burger
PC: “Large cell/anaplastic” medulloblastomas. A Pediatric Oncology Group Study. J Neuropathol Exp Neurol
2000, 59:857-865.
7.1.10.3 Medulloblastoma: 58 amplifications out of 255 cases
7.1.10.4 Cerebral PNET
3p13-p14
7p11.2
7q21.3
4q12-q13
7.1.10.4 Pineoblastoma,
supratentorial PNET
75 (3/4)
25 (1/4)
25 (1/4)
10 (1/10)
4q33-qter
50 (5/10)
9p21
40 (4/10)
13q14.3-qter
30 (3/10)
14q22-qter
40 (4/10)
18q22-qter
30 (3/10)
19q13
40 (4/10)
7.1.10.4 SUPRATENTORIAL PRIMITIVE NEUROECTODERMAL TUMOR (1/2 cases)
amp(2p24,9p)
33
33
33
32
32
32
32
32
32
32
Bayani J, Zielenska M, Marrano P, Kwan Ng Y, Taylor MD, Jay V, Rutka JT, Squire JA: Molecular cytogenetic
analysis of medulloblastomas and supratentorial primitive neuroectodermal tumors by using conventional
banding, comparative genomic hybridization, and spectral karyotyping. J Neurosurg 2000, 93:437-448.
7.2.1
7.2.1
Schwannoma
Schwannoma
None
13q22
22q12
Xq21-qter
None
7.2.2
0 (0/3)
12 (3/25)
32 (8/259
12 (3/25)
0 (0/25)
1
2
2
2
2
NEUROFIBROMA, PIGMENTED (MELANOTIC) (0/1 cases)
Kuhnen C, Herter P, Soimaru C, Homann HH, Johnen G: Pigmented (melanotic) neurofibroma: Report of an
unusual case with immunohistochemical, ultrastructural and cytogenetic analyses. Pathol Res Pract 2002,
198:125-131.
7.2.2
NEUROFIBROMA (?/24 cases)
Comment: Amplifications were not determined.
Koga T, Iwasaki H, Ishiguro M, Matsuzaki A, Kikuchi M: Losses in chromosomes 17, 19, and 22q in
neurofibromatosis type 1 and sporadic neurofibromas: a comparative genomic hybridization analysis. Cancer
Genet Cytogenet 2002, 136:113-120.
7.2.3
Malignant peripheral
nerve sheath tumor
3q11-q24
40 (4/10)
46
9p
10p
11q14-qter
13q14-q21
40 (4/10)
30 (3/10)
30 (3/10)
60 (6/10)
7 (5/7)
40 (4/10)
32 (6/19),
17(4/23)
17 (4/23)
4 (1/23)
4 (1/23)
4 (1/23)
11 (2/19)
5 (1/19)
5 (1/19)
9 (2/23)
4 (1/23)
4 (1/23)
5 (1/19)
4 (1/23)
5 (1/19)
4 (1/23)
4 (1/23)
46
46
46
46
46
46
47,48
17q24-qter
7.2.3
Malignant peripheral
nerve sheath tumor
18p
1p22-p31
1p33-p36.1
4q12-q13
5p13-pter
5p14
5p15
5p11-p15
7p11-p12
7p12-pter
7p14-pter
8q12-qter
8q13
8q21.1-q22
8q22-q23
8q23-qter
8q24.1-qter
48
48
48
48
47
47
47
48
48
48
47
48
47
48
48
9p21-pter
9q31-q33
10p
10q21-q22
11p12-pter
11q22
12p
12p13
12q13-q14
12q14-q21
12q14-q22
12q24.1
12q24.3
13qcen-q14
13q21-q31*
13q31-q33
13q32-q33
14q24.3-qter
17p
17p11.2-p12
17q24-qter
18q22
20q12-qter
22
Xp11.2-p11.4
Xp21.3-p22.1
47 (9/19)
5 (1/19)
16 (3/19)
16 (3/19)
16 (3/19)
26 5/19)
16 (3/19)
5 (1/19)
5 (1/19)
5 (1/19),
4(1/23)
5 (1/19)
5 (1/19)
11 (2/19)
16 (3/19)
26 5/19),
17(4/23)
4 (1/23)
4 (1/23)
22 (5/23)
13 (3/23)
4 (1/23)
4 (1/23)
21 (4/19)
4 (1/23)
13 (3/23)
4 (1/23)
4 (1/23)
47
47
47
47
47
47
47
47
47
47,48
47
47
47
47
47,48
48
48
48
48
48
48
47
48
48
48
48
7.2.3
7.2.3
7.2.3
MALIGNANT PERIPHERAL NERVE SHEATH TUMOR (4/10 cases)
amp(7p12pter,7p13pter,7p14pter,17q24qter)/amp(17q22q24)/amp(8q23qter,17q24qter)/amp (9p21p23,12p12)
Comment:
4/6 tumors with Recklinghausen's disease:
amp(7p12pter,7p13pter,7p14pter,17q24qter)/amp(17q22q24)/amp(8q23qter,17q24qter)/amp (9p21p23,12p12)
0/4 tumors without Recklinghausen's disease
Schmidt H, Taubert H, Meye A, Wurl P, Bache M, Bartel F, Holzhausen H-J, Hinze R: Gains in chromosomes
7, 8q, 15q and 17q are characteristic changes in malignant but not in benign peripheral nerve sheath tumors
from patients with Recklinghausen's disease. Cancer Lett 2000, 155:181-190.
MALIGNANT PERIPHERAL NERVE SHEATH TUMOR (1/4 cases)
amp(8q12qter)
Schmidt H, Taubert H, Würl P, Bache M, Bartel F, Holzhausen H-J, Hinze R: Cytogenetic characterization of
six malignant peripheral nerve sheath tumors: comparison of karyotyping and comparative genomic
hybridization. Cancer Genet Cytogenet 2001, 128:14-23.
PERIPHERAL NERVE SHEATH TUMOR (?/50 cases)
Comment: Amplifications were not determined.
Koga T, Iwasaki H, Ishiguro M, Matsuzaki A, Kikuchi M: Frequent genomic imbalances in chromosomes 17, 19,
and 22q in peripheral nerve sheath tumours detected by comparative genomic hybridization analysis. J Pathol
2002,197:98-107.
7.2.3
Malignant peripheral nerve tumors: 47 amplifications out of 113 cases
7.3.1
Meningioma
1pcen-p33
4q
6q
7p
10q
14
18q
22q13.2-qter
7.3.1
7.3.1
7.3.1
35 (7/20)
15 (3/20)
25 (5/20)
15 (3/20)
15 (3/20)
15 (3/20)
12q13-q15
2 (1/62)
17q22-q23
6 (1/18),
15(9/62)
25 (5/20)
20
2 (1/62)
22q11.2-q12
2 (1/62)
50 (10/20)
Not determined 0 (0/20)
None
0 (0/25)
20
20
20
20
20
20
12
12,14
20
12
12
20
20
10
MENINGIOMA (?/25 cases)
Comment: Amplifications were not determined.
Carlson KM, Bruder C, Nordensköld M, Dumanski JP: 1p and 3p deletions in meningiomas without detectable
aberrations of chromosome 22 identified by comparative genomic hybridization. Genes Chromosomes Cancer
1997, 20:419-424.
MENINGIOMA (1/18 cases)
amp(17q22q23)
Khan J, Parsa NZ, Harada T, Meltzer PS, Carter NP: Detection of gains and losses in 18 meningiomas by
comparative genomic hybridization. Cancer Genet Cytogenet 1998, 103:95-100.
MENINGIOMA, BENIGN (0/19 cases)
Weber RG, Boström J, Wolter M, Baudis M, Collins VP, Reifenberger G, Lichter P: Analysis of genomic
alterations in benign, atypical, and anaplastic meningiomas: toward a genetic model of meningioma
progression. Proc Natl Acad Sci USA 1997, 94:14719-14724.
7.3.1
7.3.1
7.3.1
7.3.1
7.3.1
MENINGIOMA, ATYPICAL (2/21 cases)
amp(12q13q15)/amp(17q21qter)
Weber RG, Boström J, Wolter M, Baudis M, Collins VP, Reifenberger G, Lichter P: Analysis of genomic
alterations in benign, atypical, and anaplastic meningiomas: toward a genetic model of meningioma
progression. Proc Natl Acad Sci USA 1997, 94:14719-14724.
MENINGIOMA, ANAPLASTIC (10/19 cases)
amp(17q21qter)/amp(17q21qter)/amp(17q21qter)/amp(17q23)/amp(20)/amp(17q22qter)/amp(22q11.2q12)/am
p(17q22q23)/amp(17q21qter)/amp(17q22qter)
Weber RG, Boström J, Wolter M, Baudis M, Collins VP, Reifenberger G, Lichter P: Analysis of genomic
alterations in benign, atypical, and anaplastic meningiomas: toward a genetic model of meningioma
progression. Proc Natl Acad Sci USA 1997, 94:14719-14724.
MENINGIOMA, ANAPLASTIC (2/44 cases)
amp(17q22q23)/ amp(17q22q23)
Büschges R, Ichimura R, Weber RG, Reifenberger G, Collins VP: Allelic gain and amplification on the long arm
of chromosome 17 in anaplastic meningiomas. Brain Pathol 2002, 12:145-153.
MENINGIOMA (6/25 cases)
amp(20q)/amp(12q13qter,17q21qter)/amp(20q)/amp(22q11q12)/amp(17q21qter,20q)/amp(17q21qter)
Arslantas A, Artan S, Oner U, Durmaz R, Muslumanoglu H, Atasoy MA, Basaran N, Tel E: Comparative
genomic hybridization analysis of genomic alterations in benign, atypical and anaplastic meningiomas. Acta
Neurol Belg 2002, 102:53-62.
MENINGIOMA (?/33 cases)
Comment: Amplifications were not determined.
Rienstein S, Loven D, Israeli O, Ram Z, Rappaport ZH, Barkai G, Goldman B, Aviram-Goldring A, Friedman E:
Comparative genomic hybridization analysis of radiation-associated and sporadic meningiomas. Cancer Genet
Cytogenet 2001, 131:135-140.
7.3.1
Meningioma: 36 amplifications out of 329 cases
7.3.2
MENINGEAL SOLITARY FIBROUS TUMOR (?/3 cases)
Comment: Amplifications were not determined.
Martin AJ, Summersgill BM, Fisher C, Shipley JM, Dean AF: Chromosomal imbalances in meningeal solitary
fibrous tumors. Cancer Genet Cytogenet 2002, 135:160-164.
7.3.4
7.3.4
7.3.4
7.3.4
HEMANGIOBLASTOMA, SPORADIC CEREBELLAR (?/10 cases)
Comment: Amplifications were not determined.
Sprenger SHE, Gijtenbeek JMM, Wesseling P, Sciot R, van Calenbergh F, Lammens M, Jeuken JWM:
Characteristic chromosomal aberrations in sporadic cerebellar hemangioblastomas revealed by comparative
genomic hybridization. J Neuro-Oncol 2001, 52:241-247.
HEMANGIOBLASTOMA (?/22 cases)
Comment: Amplifications were not determined.
Lemeta S, Aalto Y, Niemela M, Jaaskelainen J, Sainio M, Kere J, Knuutila S, Bohling T: Recurrent DNA
sequence copy losses on chromosomal arm 6q in capillary hemangioblastoma. Cancer Genet Cytogenet 2002,
133:174-178.
HEMANGIOBLASTOMA (?/20 cases)
Comment: Amplifications were not determined.
Gijtenbeek JM, Jacobs B, Sprenger SH, Eleveld MJ, van Kessel AG, Kros JM, Sciot R, van Calenbergh F,
Wesseling P, Jeuken JW: Analysis of von Hippel-Lindau mutations with comparative genomic hybridization in
sporadic and hereditary hemangioblastomas: possible genetic heterogeneity. J Neurosurg 2002, 97:977-982.
HEMANGIOBLASTOMA (?/4 cases)
Comment: Amplifications were not determined.
Weil RJ, Vortmeyer AO, Zhuang Z, Pack SD, Theodore N, Erickson RK, Oldfield EH: Clinical and molecular
analysis of disseminated hemangioblastomatosis of the central nervous system in patients without von HippelLindau disease: Report of four cases. J Neurosurg 2002, 96: 775-787.
7.5
ENDODERMAL SINUS TUMORS, CHILDHOOD (2/16 cases)
amp(8q24)/amp(8q24)
Perlman EJ, Hu J, Ho D, Cushing B, Lauer S, Castleberry RP: Genetic analysis of childhood endodermal sinus
tumors by comparative genomic hybridization. J Pediatr Hematol Oncol 2000, 22:100-105.
7.5.1
GERMINOMA (1/8 cases)
amp(2p)
Rickert CH, Simon R, Bergmann M, Dockhorn-Dworniczak B, Paulus W: Comparative genomic hybridization in
pineal germ cell tumors. J Neuropath Exp Neur 2000, 59:815-821.
7.5.3
YOLK SAC TUMOR (1/1 case)
first recurrences: amp(12,20,21)
second recurrences: amp(3q21qter,20,21)
Rickert CH, Simon R, Bergmann M, Dockhorn-Dworniczak B, Paulus W: Comparative genomic hybridization in
pineal germ cell tumors. J Neuropath Exp Neur 2000, 59:815-821.
7.5.5
7.5.5
TERATOMA, IMMATURE (1/2 cases)
amp(12p)
Rickert CH, Simon R, Bergmann M, Dockhorn-Dworniczak B, Paulus W: Comparative genomic hybridization in
pineal germ cell tumors. J Neuropath Exp Neur 2000, 59:815-821.
TERATOMA, FETAL IMMATURE (0/1 case)
Rickert CH, Paulus W: No chromosomal imbalances detected by comparative genomic hybridisation in a case
of fetal immature teratoma. Childs Nerv Syst 2002, 18:639-643.
7.5.6
MIXED TERATOMA-GERMINOMA (3/4 cases)
amp(8q12q24.13,12p)/amp(8,12p)/amp(8q12q21.2)
Rickert CH, Simon R, Bergmann M, Dockhorn-Dworniczak B, Paulus W: Comparative genomic hybridization in
pineal germ cell tumors. J Neuropath Exp Neur 2000, 59:815-821.
7.6
7.6
Neuroendocrine tumors of 1p32-pter
the digestive system
9p
11q*
16p
17p
18p
19p
PARASYMPATHETIC PARAGANGLIOMAS (0/14 cases)
20 (4/20)
45
20 (4/20)
20 (4/20)
30 (6/20)
20 (4/20)
25 (5/20)
15 (3/20)
45
45
45
45
45
45
7.6
Dannenberg H, de Krijger RR, Zhao J, Speel EJM, Saremaslani P, Dinjens WNM, Mooi WJ, Roth J, Heitz PU,
Komminoth P: Differential loss of chromosome 11q in familial and sporadic parasympathetic paragangliomas
detected by comparative genomic hybridization. Am J Pathol 2001, 158:1937-1942.
GRANULAR CELL TUMORS (0/7 cases)
Rickert CH, Paulus W: Genetic characterization of granular cell tumours. Acta Neuropathol (Berl) 2002,
103:309-312.
7.7
Pheochromocytoma
1p31
1p21-p22
1p12-p13
2q24-q31
3p11-p14
3q23-q24
4q25-q26
11p14-p15
11q14-q23
20q
74 (17/23)
74 (17/23)
74 (17/23)
13 (3/23)
17 (4/23)
39 (9/23)
17 (4/23)
17 (4/23)
13 (3/23)
4 (1/23)
49
49
49
49
49
49
49
49
49
49
7.7
7.7
7.7
7.7
7.7
PHEOCHROMOCYTOMA (?/30 cases: 21 VHL-related pheochromocytomas, 3 MEN 2- related
pheochromocytomas and 6 VHL-related CNS hemangioblastomas)
Comment: Amplifications were not determined.
Lui WO, Chen J, Glasker S, Bender BU, Madura C, Khoo SK, Kort E, Larsson C, Neumann HPH, Teh BT:
Selective loss of chromosome 11 in pheochromocytomas associated with the VHL syndrome. Oncogene 2002,
21:1117-1122.
PHEOCHROMOCYTOMA, SPORADIC (0/29 cases)
Dannenberg H, Speel EJM, Zhao J, Saremaslani P, van der Harst E, Roth J, Heitz PU, Bonjer HJ, Dinjens
WNM, Mooi WJ, Komminoth P, de Krijger RR: Losses of chromosomes 1p and 3q are early genetic events in
the development of sporadic pheochromocytomas. Am J Pathol 2000, 157:353-359.
BRAIN METASTASES, SOLID TUMORS (?/40 cases)
Comment: Number of cases was not clearly defined, but high-level amplifications were found at 1q21q24,
1q21q31, 1q31q32, 1q44, 3q23, 3q24qter, 3q27q28, 5p12p14, 7p11.2p15, 7p15pter, 7p21p22, 7q11.2,
7q11.2qter, 8q13q21.1, 8q21qter, 8q21.3qter, 8q22qter, 8q23q24, 9q34, 17q25, 20p12p13, 20p13, and
20q11.2qter.
Petersen I, Hidalgo A, Petersen S, Schluns K, Schewe C, Pacyna-Gengelbach M, Goeze A, Krebber B, Knosel
T, Kaufmann O, Szymas J, von Deimling A: Chromosomal imbalances in brain metastases of solid tumors.
Brain Pathol 2000, 10:395-401.
SOLID TUMOR
REVIEW
Gebhart E, Liehr T: Patterns of genomic imbalances in human solid tumors. Int J Oncol 2000, 16:383-399.
TUMOR PATHOLOGY
REVIEW
Oga A, Kawauchi S, Izumi H, Ping LX, Furuya T, Sasaki K: New perspectives for tumor pathology provide by
comparative genomic hybridization. Int J Clin Oncol 2002, 7:133-137.
7.7
Pheochromocytoma: 24 amplifications out of 122 cases
Concerning Losses: 10% of the cases must be aberrant and the number of aberrant cases at least three; findings in
parentheses are examples of highly frequent aberrations that fail to meet the 3 cases/10% criteria; Boldface indicates that
more than 30% of the cases detected in a study of at least 10 cases were aberrant;
*Description of a region, e.g. 6q21-q22, implies that in a variety of cases the loss was located within the area but it did not
necessarily affect the whole area in all cases. The described regions may therefore not be considered analogous with
minimal overlapping area. Furthermore, in some single cases the loss area may extend beyond the region described. As
a whole, the description should be considered a flexible way to summarize critical areas of recurrent DNA copy number
changes in that particular tumor type. Description without an asterisk indicates minimal overlapping areas.
Concerning Amplicons: Boldface indicates recurrent established amplicons (at least three cases and frequency more
than 5%).
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Sarlomo-Rikala M, El-Rifai W, Lahtinen T, Andersson LC, Miettinen M, Knuutila S: Different patterns of DNA copy
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Antinheimo J, Sallinen S-L, Sallinen P, Haapasalo H, Helin H, Horelli-Kuitunen N, Wessman M, Sainio M,
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Reardon DA, Entrekin RE, Sublett J, Ragsdale S, Li H, Boyett J, Kepner JL, Look AT: Chromosome arm 6q loss is
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Chromosomes Cancer 1999, 24:230-237.
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Shlomit R, Ayala A-G, Michal D, Ninett A, Frida S, Boleslaw G, Gad B, Gideon R, Shlomi C: Gains and losses of
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