Supplementary Table Legends
Supplementary Table 1. Clinical, hematological and genetic features of 393 patients with
hematological malignancies and no karyotypic evidence of 4q24 abnormalities who
underwent RP11-16G16/TET2 screening.
No., progressive number; M, male; F, female; n.a., not available; Diagnosis, cases were
classified according to the FAB or WHO classification; B-ALL, B-cell acute lymphoblastic
leukemia; T-ALL, T-cell acute lymphoblastic leukemia; MM, multiple myeloma; PL,
plasmacell leukemia; CLL, chronic lymphocytic leukemia; NHL, non-Hodgkin lymphoma;
RA, refractory anemia; RARS-T, refractory anemia with ringed sideroblasts and
thombocytosis; RCMD, refractory anemia with multilineage dysplasia; MDS-U,
myelodysplastic syndrome, unclassifiable; RAEB, refractory anemia with excess of blasts;
RAEB-T, refractory anemia with excess of blasts in trasformation; AML, acute myeloid
leukemia; ET, essential thrombocytemia; PV, polycitemia vera; PMF, primary
myelofibrosis; CEL, chronic eosinophilic leukemia; MPN, U, myeloproliferative neoplams,
unclassifiable; MDS/MPN, U, myelodysplastic syndrome/myeloproliferative neoplams,
unclassifiable; CMML, chronic myelomonocytic leukemia; aCML, atypical chronic myeloid
leukemia. Patients nos 99, 173, 174, 246, and 247 had karyotypic 4q24 abnormalities.
Genetics, when available genetic data referred to karyotyping, interphase fluorescence in
situ hybridization (I-FISH) and/or RT-PCR and mutational analysis. T-ALL nos. 99-111
were studied by Combined Interphase FISH (Gorello P, et al. Haematologica 2010). I-FISH
panel in MM included probes for: D13S25, D13S19, RB1, at 13q14, IGH at 14q32, and
TP53 at 17p13. The CLL I-FISH panel included genomic probes for ATM at 11q23,
D13S19, at 13q14, IGH at 14q32, TP53 at 17p13, and an alpha satellite centromeric probe
for chromosome 12 (CEP 12, Vysis, Abbott). I-FISH panel in aCML and CMML included
probes for: PDGFRA/4q12, PDGFRB/5q33, FGFR1/8p12, ETV6/12p13, BCR/22q11.
Cases 46 and 343, in bold, had a monoallelic TET2del.
Supplementary Table 2. Results of FISH studies with genomic clones for 12 putative
oncogenes/tumor suppressor genes in 20 patients with TET2del.
Patients’ numbers 6-23 refer to Table 1, 46 and 343 to Supplementary Table S1. -,
deletion; +, normal; ++, 3 or more signals; empty, not done. CEP, centromeric alpha1
satellite (Vysis, Abbott); *Pt. 21. Two independent clones bore 4q or 5q deletions as
diseases shifted from CMML to RA; °Pt. 23. del(7)(q22) was detected in 2005 and 2009
but not in 2000 (diagnosis); # this region was studied with diverse types of genomic probes
(see design and methods and supplementary data); §probe LSI D13S25 or LSI 13q14/RB1
(Vysis, Abbott) were alternatively applied.
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