Small round cell_tumor_DR NARMADAPresentation Transcript
Moderator:-Dr. Poonam Nanwani
Speaker:- Dr. Narmada Prasad Tiwari
Histologically, many of the pediatric neoplasms have
more primitive origin characterized by sheets of
cells ,with small , round nuclei.
Because of their primitive histologic appearance
many childhood tumor have been collectively referred
to as small round blue cell tumor.
The differential diagnosis of such tumors are:-
most common extracranial solid tumor of
most frequently diagnosed tumor of infancy.
Median age at diagnosis is 21 months.
Most occur sporadically.
1 to 2% occur familial- Germ line mutation in the
anaplastic lymphoma kinase (ALK) gene
In childhood 40% of neuroblastoma arise in
Other sites-along sympathetic chain
• under 2 year - large abdominal mass, fever
About 90% of neuroblastoma regardless of
location produce catecholamines.
Neuroblastoma – size- minute nodules to large
Small round blue cell tumor
neuorpil formation (fibers, i.e., axons dendrites, mostly
immunochemistry – neuron specific enolase
EM – secretory granules (catecholamine)
Usual features of anaplasia
high mitotic rate is unfavorable
evidence of Schwann cell or ganglion differentiation
Poorly differentiated type
Neuroblastoma may metastasize widely through the
hematogenous & lymphatic system, particularly to
liver, CNS, bone, lymph nodes and bone marrow.
Prognostic factors in neuroblastoma
Variable Favourable Unfavourable
(1) Stage 1, 2A,2B,4S 3,4
(2) Age <18 month > 18 month
(a)Evidence of schwannnian stroma
& gangliocytic differentiation.
(b) Mitosis-karyorrhexis index
< 200/5000 cells
(4) DNA ploidy Hyperdiploidy or
(5) N-Myc Not amplified Amplified
(6) Chromosome 17q gain Absent Present
(7) Chromosome 1 p loss Absent Present
(8) Chromosome 11q loss Absent Present
(9) Trk A expression Present Absent
(10)TrkB expression Absent Present
(11) Telomerase expression Low or Absent Highly
Age:- 3 -6 years
Sex:- No sex predeliction
Clinical features-Large abdominal mass
Pain in abdomen
Genetic loci predisposing to wilms’ tumor are
WT1 ( located on chromosome 11p 13 )
WT2 ( located on chromosome 11p 15.5 )
- Mutations of B catenin gene-14-20%
- Conditions associated with wilms’ tumor are:-
Beckwith wiedemann Syndrome:-
Hemihypertrophy of organs
Denys Drash Syndrome:-
Gonadal dysgenesis( male psuedohermaphroditism)
Early onset nephropathy
Gross:- solid, well circumscribed.
On cut-:-solid & pale gray & often exhibit areas of
cystic changes, necrosis & hemorrhage.
Microscopically :- Three major component are
I- Undifferentiated blastema
II – Mesenchymal ( stromal) tissue
III – Epithelial tissue
Blastematous - small round to oval cells,
The mesenchymal element- spindle cell
fibroblast like configuration.
Epithelial component- embryonic glomerular
and tubular structures.
Additional morphological features-
Ciliated,mucinous, squamous or transitional
epithelium, neuroepithelium,mature adipose
tissue,Cartilage & bone
Anaplastic wilms tumour
Spread and metastasis-
Lymph nodes-15% cases
Distant metastasis- lungs, liver and peritoneum.
Rhabdomyosrcoma is the most common soft tissue
sarcoma of childhood & adolescence, usually appear
before age 20 year.
Embryonal (most common)
Pleomorphic (least common)
Pleomorphic Rhabdomyosarcoma:- It is least
Site:- Extremities & thigh.
Grossly :- It is confined within fascial compartment
& have the shape of muscle from which it arises.
Clinical Feature:-Arise from unsegmented &
Site:- Common in head & neck region
Age :- 3 -12 years, can occur in adults also.
Grossly-poorly circumscribed, white,soft.
predominantly of round
There is perivascular
are small &
When beneath a mucosal
membrane , such as vagina,
urinary bladder or nasal
cavity it frequently form
large polypoid mass
resembling a bunch of
grapes- Hence name
Dense zone of
undifferentiated tumor cells
immediately beneath the
epithelium , aformation of
known as Nicholson’s
Common Site:- Forearm
Perirectal & perianal region
Head and neck region.
Age- 10-25 yrs.
Microscopically( alveolar type)
Tumor cells are
sepearted in nest by
connective tissue septa
Silver impregnation technique
Immunohistochemically:- Markers are
Tropomyosin a actinin,titin, Z protein
Enzymes( creatine kinase)
Neurofilament & S-100 protein
CARP- cardiac ankyrin related protein
Ewing’s sarcoma limited neural differentiation.
PNET show more neural features.
Age:- 5 to 20 years (commonly)
Infancy or adulthood rarely
Sex:- Male predilection.
It generally arise in medullary cavity of shaft from
which it permeate the cortex & invade the soft
EWINGS SARCOMACommon site- Long bones( femur,tibia,
Rare site- Bone of pelvis, rib , vertebra, mandible,
Over 95% show reciprocal translocation of
chromosome 11 : 22 (q24 : q 12).
This leads to fusion of EWS gene with FLI-1.
This tranlocation can be detected by RT-PCR.
This can be used for the detection of primary and
metastatic or residual disease in tissue & body fluids
The EWS rearrangement has also been detected by
Ewing’s sarcoma of
Onion skin appearance
Positive for Vimentin.
Neuron specific enolase
Site:- Commonly arise from Cerebellum.
Rapid growth may occlude the flow of CSF leading to
The tumor - circumscribed, gray & friable.
microscopic - extremely cellular.
small cells with scanty cytoplasm & hyperchromatic
nuclei that frequently crescent shaped.
LYMPHOMA(Chronic lymphocytic leukemia/small
Age:- median age is 60 years.
Sex ratio:- 2:1 male to female
Clinical feature:- Mostly asymptomatic
SLL/CLL:- Low power
view show diffuse
effacement of nodal
-1.with absolute lymphocytosis.
2.associated with monoclonal gammopathy
10-15% cases – autoimmune hemolytic anemia.
May transform into diffuse large B cell lymphoma-
IHC- CD20,CD23,CD5, .
Retinoblastoma is the
most common intraocular
neoplasm of children- 16
mths- 2 yrs.
present as a LEUKOCORIA
/ strabisumus .
Bilateral in 30% > 90%
Sporadiac – 60%
Familial – 40%
Gene located on Chromosome –
13q14( retinoblastoma Rb gene)
Knudsons 2 hit hypothesis-
Genetic mutation in both allele are necessary to
Hereditary retinoblastoma – somatic Mutation in
Sporadic retinoblastoma – both mutations are
GROSS:-flat or elevated
Endophytic type:- This is protrude into vitrous.
Exophytic type:-They may grow between retina &
Retinoblastoma with typical “ Flexner – wintersteiner rosettes”.
Invasion of optic nerve.
Invasion of uveal tract.
Invasion of meninges.
IHC- NSE,GFAP,S-100 protein retinal binding
protein, retinal S antigen.
Long term survivors- osteosarcoma,