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Solid-Pattern Desmoplastic Small Round Cell Tumor.

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Date
2017-04
ICR Author
Chisholm, Julia
Thway, Khin
Marsden,
Author
Ali, A
Mohamed, M
Chisholm, J
Thway, K
Type
Journal Article
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Abstract
Desmoplastic small round cell tumor (DSRCT) is an aggressive small round cell sarcoma that typically occurs intra-abdominally in adolescents and young adults, and is characterized by a recurrent t(11;22)(p13;q12) translocation leading to generation of the EWSR1-WT1 fusion gene, which codes for a chimeric protein with transcriptional regulatory activity. DSRCT has a characteristic histologic appearance of nests of uniform small cells within prominent fibroblastic stroma and immunohistochemically it shows multidirectional differentiation, with expression of epithelial, neural, and muscle markers. We illustrate a case of DSRCT that presented as a large intra-abdominal mass, which harbored EWSR1 rearrangement by fluorescence in situ hybridization and EWSR1-WT1 fusion transcripts by reverse transcription-polymerase chain reaction (RT-PCR), and which histologically had an entirely solid morphology, lacking evidence of desmoplastic stroma. This purely solid variant emphasizes that even when occurring at a typical location, DSRCT may be difficult to recognize when lacking nonclassical morphology. This is of clinical relevance, as DSRCT with this pattern could be misdiagnosed as Ewing sarcoma if RT-PCR is not performed, with resulting prognostic and therapeutic implications.
URI
https://repository.icr.ac.uk/handle/internal/1271
DOI
https://doi.org/10.1177/1066896916660198
Collections
  • Clinical Studies
  • Molecular Pathology
Subject
Humans
Soft Tissue Neoplasms
Calmodulin-Binding Proteins
RNA-Binding Proteins
RNA-Binding Protein EWS
Oncogene Proteins, Fusion
WT1 Proteins
In Situ Hybridization, Fluorescence
Reverse Transcriptase Polymerase Chain Reaction
Adolescent
Female
Desmoplastic Small Round Cell Tumor
Research team
Sarcoma Clinical Trials in children and young people
Language
eng
License start date
2017-04
Citation
International journal of surgical pathology, 2017, 25 (2), pp. 158 - 161

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