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Solid-Pattern Desmoplastic Small Round Cell Tumor.

Ahmed Ali¹, Mustafa Mohamed¹, Julia Chisholm¹

¹1 Royal Marsden Hospital, London, UK.

International Journal of Surgical Pathology

|July 20, 2016

Summary

Desmoplastic small round cell tumor (DSRCT) can present without its typical stroma. Accurate diagnosis requires molecular testing, like RT-PCR, to distinguish it from Ewing sarcoma.

Keywords:

EWSR1-WT1 desmoplastic small round cell tumor morphology pathology sarcoma solid pattern

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Isolation and Characterization of Tumor-initiating Cells from Sarcoma Patient-derived Xenografts

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Area of Science:

Oncology
Molecular Pathology
Genetics

Background:

Desmoplastic small round cell tumor (DSRCT) is an aggressive intra-abdominal sarcoma in young adults.
It is characterized by the EWSR1-WT1 fusion gene resulting from a t(11;22) translocation.
Histologically, DSRCT typically shows nests of small cells within a desmoplastic stroma and multidirectional differentiation.

Observation:

A case of DSRCT presented as a large intra-abdominal mass.
This tumor lacked the characteristic desmoplastic stroma, exhibiting purely solid morphology.
EWSR1 rearrangement and EWSR1-WT1 fusion transcripts were confirmed via FISH and RT-PCR.

Findings:

The study identified a purely solid variant of DSRCT.
This variant lacks the typical histologic features, making it challenging to recognize.
Molecular confirmation is crucial for accurate diagnosis.

Implications:

DSRCT with solid morphology can be misdiagnosed as Ewing sarcoma without molecular testing.
Accurate diagnosis is critical for appropriate patient prognosis and therapeutic strategies.
Recognizing nonclassical DSRCT variants improves diagnostic accuracy in small round cell sarcomas.