Successfully reported this slideshow.
We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. You can change your ad preferences anytime.

Small round cell_tumor_DR NARMADA

9,317 views

Published on

SMALL BLUE ROUND CELL TUMOUR, PEDIATRIC NEOPLASM,

  • Login to see the comments

Small round cell_tumor_DR NARMADA

  1. 1. Moderator:-Dr. Poonam Nanwani Speaker:- Dr. Narmada Prasad Tiwari
  2. 2. 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.
  3. 3. The differential diagnosis of such tumors are:- Neuroblastoma Wilms tumour(Nephroblastoma) Rhabdomyosarcoma Ewing’s sarcoma/PNET Medulloblastoma Retinoblastoma Lymphoma
  4. 4. NEUROBLASTOMA  most common extracranial solid tumor of childhood 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
  5. 5. Clinical course- In childhood 40% of neuroblastoma arise in adrenal medulla. Other sites-along sympathetic chain post. Mediastinum neck, brain. • under 2 year - large abdominal mass, fever ,weight loss. About 90% of neuroblastoma regardless of location produce catecholamines. Neuroblastoma – size- minute nodules to large masses
  6. 6. Gross-
  7. 7. Neuorblastoma Morphology Small round blue cell tumor neuorpil formation (fibers, i.e., axons dendrites, mostly unmyelinated) rosette formation immunochemistry – neuron specific enolase EM – secretory granules (catecholamine) Usual features of anaplasia high mitotic rate is unfavorable evidence of Schwann cell or ganglion differentiation favorable
  8. 8. Histologically
  9. 9. Undifferentiated type
  10. 10. Differentiating type Poorly differentiated type
  11. 11. Neuroblastoma may metastasize widely through the hematogenous & lymphatic system, particularly to liver, CNS, bone, lymph nodes and bone marrow.
  12. 12. Prognostic factors in neuroblastoma Variable Favourable Unfavourable (1) Stage 1, 2A,2B,4S 3,4 (2) Age <18 month > 18 month (3)Histology:- (a)Evidence of schwannnian stroma & gangliocytic differentiation. (b) Mitosis-karyorrhexis index Present < 200/5000 cells Absent >200/5000 cells (4) DNA ploidy Hyperdiploidy or near triploidy Near diploid (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 expressed.
  13. 13. WILMS’ TUMOR(NEPHROBLASTOMA) Age:- 3 -6 years Sex:- No sex predeliction Clinical features-Large abdominal mass Hematuria Pain in abdomen Hypertension
  14. 14. Molecular Genetic 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:- WAGR syndrome:- Wilms’ tumor Aniridia Genital anomalies Retardation
  15. 15. Beckwith wiedemann Syndrome:- Omphalocele Macroglossia Hemihypertrophy of organs Denys Drash Syndrome:- Gonadal dysgenesis( male psuedohermaphroditism) Early onset nephropathy
  16. 16. Gross:- solid, well circumscribed. On cut-:-solid & pale gray & often exhibit areas of cystic changes, necrosis & hemorrhage.
  17. 17. Microscopically :- Three major component are identified. I- Undifferentiated blastema II – Mesenchymal ( stromal) tissue III – Epithelial tissue Blastematous - small round to oval cells, scanty cytoplasm The mesenchymal element- spindle cell fibroblast like configuration. Epithelial component- embryonic glomerular and tubular structures.
  18. 18. Additional morphological features- Ciliated,mucinous, squamous or transitional epithelium, neuroepithelium,mature adipose tissue,Cartilage & bone
  19. 19. Anaplastic wilms tumour
  20. 20. Spread and metastasis- Local spread Lymph nodes-15% cases Distant metastasis- lungs, liver and peritoneum.
  21. 21. Rhabdomyosarcoma:- Rhabdomyosrcoma is the most common soft tissue sarcoma of childhood & adolescence, usually appear before age 20 year. Types:- Embryonal (most common) Alveolar Rhabdomyosarcoma Pleomorphic (least common)
  22. 22. Morphology:- Pleomorphic Rhabdomyosarcoma:- It is least common. Site:- Extremities & thigh. Age:- Adult Grossly :- It is confined within fascial compartment & have the shape of muscle from which it arises.
  23. 23. Microscopically:-Pleomorphic type Tumor is pleomorphic with giant cells.
  24. 24. Embryonal rhabdomyosarcoma Clinical Feature:-Arise from unsegmented & undifferentiated mesoderm. Site:- Common in head & neck region Orbit Nasopharynx Bile duct Urogenital tract Age :- 3 -12 years, can occur in adults also. Grossly-poorly circumscribed, white,soft.
  25. 25. Embryonal rhabdomyosarcoma composed predominantly of round cells. There is perivascular pseudorosette around blood vessels.
  26. 26. Microscopically(Embryonal type) Tumor cells are small & spindle shaped. Oval eccentric nuclei acidophilic cytoplasm.
  27. 27. Botryoid type 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 “Sarcoma Botryoides” Dense zone of undifferentiated tumor cells immediately beneath the epithelium , aformation of known as Nicholson’s Cambium Layer.
  28. 28. Alveolar rhabdomyosarcoma Common Site:- Forearm Arm Perirectal & perianal region Head and neck region. Age- 10-25 yrs.
  29. 29. Alveolar type
  30. 30. Microscopically( alveolar type) Tumor cells are small,round are sepearted in nest by connective tissue septa
  31. 31. Special techniques- Special Stains:- PTAH Masson’s trichome Silver impregnation technique Immunohistochemically:- Markers are Myogenin Desmin Sarcomeric actin Myosin Myoglobin
  32. 32. Tropomyosin a actinin,titin, Z protein Vimentin Enzymes( creatine kinase) Neurofilament & S-100 protein CARP- cardiac ankyrin related protein
  33. 33. EWINGS SARCOMA 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 tissue.
  34. 34. EWINGS SARCOMACommon site- Long bones( femur,tibia, humerus,fibula). Rare site- Bone of pelvis, rib , vertebra, mandible, clavicle. Clinical features: Pain Fever Leuckocytosis
  35. 35. Genetic Predisposition:- Over 95% show reciprocal translocation of chromosome 11 : 22 (q24 : q 12). This leads to fusion of EWS gene with FLI-1.
  36. 36. 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 including blood. The EWS rearrangement has also been detected by FISH technique.
  37. 37. Radiograph:- Ewing’s sarcoma of fibula. Onion skin appearance
  38. 38. Gross-
  39. 39. Microscopically:-
  40. 40. Histochemically:-
  41. 41. Immunohistochemically:- Positive for Vimentin. Neuron specific enolase Neurofilament Leu 7 CD -99
  42. 42. Medulloblastoma  5-10 yrs. Site:- Commonly arise from Cerebellum. Rapid growth may occlude the flow of CSF leading to hydrocephalous.
  43. 43. The tumor - circumscribed, gray & friable.  microscopic - extremely cellular.  small cells with scanty cytoplasm & hyperchromatic nuclei that frequently crescent shaped. Abundant mitosis.
  44. 44. Variants of medulloblastoma:- - Classical Medulloblastoma - Desmoplastic Medulloblastoma - Neuroblastic medulloblastoma - Anaplastic Medulloblastoma
  45. 45. Medulloblastoma
  46. 46. Desmoplastic medulloblastoma :-Micronodular zone of reduced cellularity( “ pale island”)
  47. 47. “Neuroblastic “ medulloblastoma. This variant of medulloblastoma is typified by the linear streaming of rounded, ‘neurocytic’ tumor cell nuclei within amassed cytoplasmic processes
  48. 48. Large cell/anaplastic medulloblastoma. Showing prominent nucleoli & pronunced mitotic & apoptotic activity .
  49. 49. LYMPHOMA(Chronic lymphocytic leukemia/small lymphocytic lymphoma Age:- median age is 60 years. Sex ratio:- 2:1 male to female Clinical feature:- Mostly asymptomatic
  50. 50. Morphology:- SLL/CLL:- Low power view show diffuse effacement of nodal architecture.
  51. 51. -1.with absolute lymphocytosis. 2.associated with monoclonal gammopathy 3. hypogammaglobulinemia 10-15% cases – autoimmune hemolytic anemia. May transform into diffuse large B cell lymphoma- richter transformation. IHC- CD20,CD23,CD5, .
  52. 52. RETINOBLASTOMA Retinoblastoma is the most common intraocular neoplasm of children- 16 mths- 2 yrs. It characteristically present as a LEUKOCORIA / strabisumus . Bilateral in 30% > 90% familial cases. Trilateral retinoblastoma
  53. 53. Genetic:- congenital. Sporadiac – 60% Familial – 40% Autosomal dominant Gene located on Chromosome – 13q14( retinoblastoma Rb gene)
  54. 54. Knudsons 2 hit hypothesis- Genetic mutation in both allele are necessary to produce retinoblastoma. Hereditary retinoblastoma – somatic Mutation in second allele. Sporadic retinoblastoma – both mutations are somatic.
  55. 55. GROSS:-flat or elevated Endophytic type:- This is protrude into vitrous. Exophytic type:-They may grow between retina & pigmented epithelium.
  56. 56. Microscopic:-
  57. 57. Retinoblastoma with typical “ Flexner – wintersteiner rosettes”.
  58. 58. Prognosis- 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, rhabdomyosarcoma.
  59. 59. THANK YOU

×