PEDIATRIC TUMORS
Disease
Age
Retinoblastoma
Commonly
around age 2
(familial =
earlier, multiple
tumors)
Neuroblastoma (also
ganglioneuroblastoma,
ganglioneuroma)
85% <5 yo, 50%
<2 yo, but can
arise in older
children, rarely
in adults.
Page 1 of 6
Most
Common
Sites
RETINA
Clinical Symptoms
Radiographic
Features
Pathologic Features
Prognosis
Genetics / Other
Information
Decreased visual
acuity, strabismus,
whitish hue to pupil,
pain and tenderness
in the eye
N/A
Primitive small blue
cells (PSBC’s from
here on) making
rosettes around
lumens (FlexnerWintersteiner
Rosettes)
Untreated, fatal.
But, with early
intervention, survival
is common.
Treatment =
enucleation,
radiation, chemo
Anywhere
along
sympathetic
chain, but 40%
in adrenal
medulla.
Secrete
catecholamines in
>90%, therefore their
breakdown products
(VMA, HVA) can be
detected in the urine.
Other hormones may
be produced.
Because areas
of widespread
necrosis are
common, these
areas can
calcify
(dystrophic
calcification),
and these can
be seen on
radiographs.
Cells range from
PSBC’s to more
differentiated cells
with elongated
cytoplasmic
processes (primitive
neurites). More
differentiated tumors
may contain (possibly
entirely) mature
ganglion cells or
intermediate cells
(ganglioneuroblasts).
Rosettes may be
present—processes
oriented inward, no
lumen (HomerWright rosettes).
Degree of
differentiation
correlates with
prognosis (more =
better).
Loss of tumor
suppressor gene (Rb)
on long arm of
Chromosome 13.
Can be sporadic
(more common) or
familial (in which
case, more likely
multiple tumors and
bilateral)
The most
differentiated (mature
ganglion cells) =
ganglio-neuroma. It
is benign.
Intermediate =
ganglioneuroblastoma.
The prognosis is
highly variable—
infants with tumors
limited to primary
sites or
metastasized to
skin, liver, marrow:
excellent, tumor
may even
spontaneously
regress.
Older children,
especially if met to
other sites, 90%
fatal.
Familial cases –
uncommon, poor
prognosis (1p abnl)
Genetics:
Chr 1p abnormality,
N-myc amplification
= poor prognosis
PEDIATRIC TUMORS
Disease
Age
Wilms’ Tumor
Usually
diagnosed
between the
ages of 2 and 5.
Page 2 of 6
Most
Common
Sites
KIDNEY
Clinical Symptoms
Radiographic
Features
Pathologic Features
Prognosis
Genetics / Other
Information
Most frequently
detected by parents
as an abdominal
mass (asymptomatic
at detection).
Calcification not
as prominent as
neuroblastoma,
so not as well
seen on
radiographs.
Soft, encapsulated
tumor. Histologically,
3 components:
epithelium (tubules),
stroma (usu fibroblast
like, maybe skel
muscle, cartilage),
and blastema
(PSBC’s).
If spread beyong
renal capsule, or if
histologic anaplasia
(tumor cells >3X
size of neighboring
cells, atypical
mitoses) = poor
prognosis.
The two WT tumor
suppressor genes =
chromosome 11.
Familial and sporadic
forms.
Prior to 1960’s, 5 yr
survival 10-40%,
now 90%).
- BeckwithWiedemann
(organomegaly,
macroglossia,
hemihypertrophy, inc.
risk of
hepatoblastoma,
rhabdomyosarcoma,
adrenocortical
tumors, brain tumors)
Associated with
several syndromes:
- WAGR complex
(Wilms’, aniridia (no
iris), GU malform.,
mental retardation)
Rhabdomyosarcoma
2/3 <10 yo, also
teens, rarely
adults
Head and neck
region, GU
tract,
extremities,
trunk.
Palpable mass or
symptoms due to a
mass
N/A
Primitive cells w/
evidence of skeletal
muscle differentiation.
Actin/myosin Z-bands
on EM, crossstriations possible on
light micro. Other
cases, PSBC’s.
Good: embryonal,
botyroid/spindle cell
subtypes. (95, 88%
5yr surv)
Intermediate:
embryonal, not
subtyped (MOST
COMMON) – 66%
5yr surv)
Poor: alveolar
(common (31%),
53% 5 yr surv)
- Denys-Drash
(gonadal dysgenesis,
nephropathy)
Alveolar subtype =
t(2;13) or t(1;13).
PEDIATRIC TUMORS
Disease
Age
Page 3 of 6
Most
Common
Sites
Clinical Symptoms
Radiographic
Features
Pathologic Features
Prognosis
Genetics / Other
Information
Rare, poor:
anaplastic, diffuse;
undifferentiated
sarcoma (<50% 5 yr
surv)
Ewing’s Sarcoma
(peripheral
neuroepithelioma/PNET
(primitive neuroectodermal
tumor)
Hemangioma
Teratoma
Second decade
Most common
tumor of infancy.
Histologically
similar to adult
hemangiomas,
but many will
spontaneously
regress.
Congenital.
Depends on age
of discovery, not
age of onset…
Pelvis, femur,
humerus
Pain, fever, signs
resembling infection
Bone lesion –
often
diaphyseal,
lytic,
permeative;
prominent
periosteal
reaction, soft
tissue mass
common.
Skin, usu head
and neck
region
Some irregularly
raised (strawberry
hemangiomas);
others flat and
widespread (port
wine stains).
N/A
Most in the
sacrococcygeal
area, others
mediastinal,
other midline
locations.
Can be
extraordinarily large
(largest tumor on
record – 300 lb
teratoma…)
N/A
PSBC tumor, usu
arranged in sheets,
nests, organoid
patterns.
PNET vs. Ewing’s?
- PNET = greater
neural differentiation
(rosettes), Ewing’s =
sheets, etc
- Same translocation,
so probably just
variable histology of
same tumor.
Blood vessels of
varying sizes,
capillaries to larger
vessels. Mostly
cutaneous.
Tissues from all three
embryonal layers, all
of which are generally
mature/benign.
In general, extent of
disease is the most
important prog
indicator (site and
subtype also play a
role). Localized =
70-85% 5 yr surv;
mets = 30%)
1960’s = 10% 5yr
surv. Today, 50%,
but metastatic =
much worse.
t(11;22)
characteristic, less
commonly t(7;22) or
t(21;22).
Benign.
N/A
Normally benign, but
10-15% contain
areas of immaturity/
malignancy.
Rather common
tumor – 1/20,000 to
1/40,000 live births.
Older children =
more likely
PEDIATRIC TUMORS
Page 4 of 6
Disease
Age
Most
Common
Sites
Clinical Symptoms
Radiographic
Features
Pathologic Features
Langerhans Cell
Histiocytosis (LCH)
(Histiocytosis X,
Eosinophilic granuloma,
Langerhans’ cell
granulomatosis
Any age may be
affected, most
are <5 yo at
diagnosis.
Isolated, lytic
bone lesions,
usually
craniofacial.
Bone lesions, may
be associated with
diabetes insipidus
and exophthalmos
(Hand-SchullerChristian
Syndrome) or be
disseminated
(Leterrer-Siwe
Syndrome).
(both of these
syndromes are rare –
HSC <5%, L-S even
less)
Lytic bone
lesions. If in
long bones, usu
in diaphysis.
Clonal proliferation of
Langerhans’ cell
histiocytes
(macrophages…),
with variable amounts
of inflammatory cells
(principally eos, less
often PMN/lymphs).
Histiocytes =
folded/grooved nuclei
with abundant
cytoplasm.
EM = Birbeck
granules (tennisracquet shaped)
within cytoplasm.
Prognosis
malignant.
Excellent. Adverse
outcome correlated
with:
>3 bones involved
hepatosplenomegaly
thrombocytopenia
young age at
diagnosis (<3 yo)
Genetics / Other
Information
Immunohistochemical
markers: S-100 and
CD1a.
PEDIATRIC TUMORS
Disease
Age
Osteosarcoma
Predominantly
second decade;
secondary forms
older (5th
decade +)
Page 5 of 6
Most
Common
Sites
Distal femur
and proximal
tibia (knee
bones), but
virtually any
bone possible.
Clinical Symptoms
Radiographic
Features
Pathologic Features
Prognosis
Pain, swelling or
mass, frequent
pathologic fracture.
Permeative,
destructive,
maybe
lytic/blastic,
Codman’s
triangle
(periosteal
reaction –
elevated s.t.
triangular area
between cortex
& periosteum),
frequent soft
tissue
extension
Strict definition:
malignant tumor in
which the tumor cells
produce malignant
osteoid/bone.
Chondroid and
hyaline cartilage may
also be seen.
Traditionally treated
by amputation or
disarticulation of
affected limb; but 5
yr surv <=20%.
Now, chemo + limbsparing surgery – 5
yr surv <= 60%.
Histologic subtypes:
Prognosis is
correlated with postchemotherapy
necrosis. If >= 90%
of tumor has
necrosed, good
prognosis. <90%,
bad. (Necrosis =
tumor cell dropout –
bone with holes
where tumor used to
be)
Intramedullary
(within bone):
- conventional –
osteoblastic,
chondroblastic,
fibroblastic. MOST
COMMON.
- well-differentiated
– resembles fibrous
dysplasia w/o typical
clinical/radiologic
features.
- small cell –
resembles Ewing’s
but assoc with
malignant bone
production
- telangiectatic –
may resemble an
aneurysmal bone
cyst, but obvious
anaplastic malignant
cells.
Juxtacortical (arises
from bone surface):
- parosteal – welldifferentiated
involving cortical
bone surface.
- periosteal –
chondroblastic
Genetics / Other
Information
PEDIATRIC TUMORS
Disease
Age
Page 6 of 6
Most
Common
Sites
Clinical Symptoms
Radiographic
Features
Pathologic Features
involving cortical
bone surface
- high grade surface
– conventional
osteosarcoma
involving cortical
bone surface.
Secondary:
- irradiation, Paget’s
disease, fibrous
dysplasia – all usually
high grade
conventional OS.
Prognosis
Genetics / Other
Information