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Soft Tissue Tumour

Pathology of Desmoplastic

Small Round Cell Tumour

Dr Sampurna Roy MD              

 

Path Quiz Case 80: Case history and images

Diagnosis:Intra-abdominal Desmoplastic Small Round Cell Tumour

 

                                                                                                                      

 

 

Desmoplastic small round cell tumors (DSRCTs) are rare and aggressive malignant tumours with a poor prognosis, which were initially described by Gerald and Rosai in 1989.

Desmoplastic small cell tumor with divergent differentiation. Pediatr Pathol. 1989;9:177–183. doi: 10.3109/15513818909022347.

Nature of tumour:

1. It is a highly malignant tumour resulting in death of 90% patients.

2. Serosal involvement including pleura suggests a possibility of a primitive tumour of mesothelial origin.

3. Fusion of Ewing’s sarcoma gene on chromosome 22 and the Wilm’s tumour gene on chromosome 11, suggest chromosomal translocation t(11;22).

Incidence: 

1. Age: DSRCT affects pediatric, adolescent and young adults (mean age 22 yrs). 

2. Sex:  Male : Female ratio is 4:1.

Clinically:

1. Abdominal distension, pain and palpable abdominal, pelvic or scrotal mass, often associated with ascites.

2. Lymph node involvement is rare but occasionally they may be the first manifestation of the disease.

Site:

Wide spread abdominal serosal involvement. Isolated cases occur in limbs , head and neck, and brain.

Other extra-abdominal sites:   Kidney ; Lung ; Pancreas ; Ovary. Sinonasal ; Orbit ; Paratesticular ; Liver ; Pleura ; Thoracic ; Mediastinum ; Parotid gland.

Gross:

1. Characteristic gross features:

i) A single large tumours up to 40 cm. in diameter with smooth or bosselated outer surface  or

ii) Multiple nodules.

2. Cut surfaces are firm to hard, gray-white with focal myxoid change and necrosis.

3. Direct invasion of intra-abdominal or pelvic viscera is restricted to serosa.

Microscopic features:

1. Tumour cells are usually small, round to oval and monotonous, very scanty cytoplasm, indistinct cell  borders with hyperchromatic nuclei and indistinct nucleoli.

2. Mitotic figures and single necrotic cell are numerous.

3. Tumour cells are arranged in well-defined basaloid nests and trabeculae of varying size and shape, separated by cellular desmoplastic stroma (fibroblasts and myofibroblasts)

4. Peripheral palisading, central necrosis with or without calcification, are present in larger islands.

5. Some cases may show: Rosette-like spaces. Others may show eosinophilic "inclusions" and eccentric nucleus resulting in a rhabdoid appearance.

6. Rarely, tubular or glandular differentiation (with luminal mucin), papillae, vacuolated signet-ring cells may be present

7. Vascular invasion, especially lymphatics is common.

Immunocytochemistry:

Tumour displays simultaneous expression of epithelial (Low molecular weight cytokeratin , Epithelial membrane antigen ), muscular (desmin) and neural (neuron-specific enolase) markers. 

1. Cytokeratin reactivity has a diffuse cytoplasmic quality.

2. The tumour is positive for WT1, a feature resulting from gene fusion.

3. Vimentin is strongly expressed but stains for actin and myogenin are negative.

4. Desmin and Vimentin positivity is typically paranuclear and globular.

5. Neural/Neuroendocrine (NSE, Leu7) is positive.

6. CD99 (antigen associated with Ewing’s Sarcoma) is usually negative.

7. Mesothelial marker (Calretinin and thrombodulin) are usually negative.

Differential diagnosis: 

Rhabdomyosarcoma, lymphoma, neuroblastoma, Peripheral Primitive Neuroectodermal Tumor (PNET) .  Immunohistochemical expression of WT1 by desmoplastic small round cell tumor: a comparative study with other small round cell tumors.

 

Further reading:

Diagnosis of desmoplastic small-round-cell tumor by cytogenetic analysis: a case report.

Clinical Characteristics and Outcomes of Pediatric Patients with Desmoplastic Small Round Cell Tumor.

Intra-abdominal desmoplastic small round cell tumors: CT and FDG-PET/CT findings with histopathological association.

Desmoplastic small round cell tumor: Diagnostic dilemma and uncertain prognosis: Report of few cases.

Central nervous system recurrence of desmoplastic small round cell tumor following aggressive multimodal therapy: A case report.

Desmoplastic small round cell tumor of the lung: A case report and literature review.

Intraabdominal desmoplastic small round cell tumors: a diagnostic and therapeutic challenge.

PDGF-A, PDGF-Rbeta, TGFbeta3 and bone morphogenic protein-4 in desmoplastic small round cell tumors with EWS-WT1 gene fusion product and their role in stromal desmoplasia: an immunohistochemical study.

Desmoplastic small round cell tumor in the abdomen and pelvis: report of CT findings in 11 affected children and young adults.

Paratesticular desmoplastic small round cell tumor: case report.

Primary desmoplastic small round cell tumor of bone: report of a case with cytogenetic confirmation.

Desmoplastic small cell tumor in the pancreas.

Abdominal small round cell tumor with osteoid and EWS/FLI1.

Desmoplastic Small Round Cell Tumor of the Kidney.

Intra-abdominal desmoplastic small-cell tumor of the peritoneum.

 

 

 

Dr Sampurna Roy  MD

Consultant  Histopathologist (Kolkata - India)


 

 

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