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Desmoplastic small round cell tumor

Desmoplastic small round cell tumor is classified as a soft tissue sarcoma. It is an aggressive and rare tumor that primarily occurs as multiple masses in the abdomen. Other areas affected include the lymph nodes, the lining of the abdomen, diaphragm , and the pelvis. The most common site of metatastic spred is to the liver, lungs, and bones. more...

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The tumor predominately strikes teenagers and young adults. It usually affects males, more than females.

There is no known risk factors that have been identified specific to the disease. Research has indicated that there is a relationship between desmoplastic small round cell tumor and the Ewings Family of Tumors.

DSRCT is associated with a unique chromosomal translocation (t11;22)(p13:q12) resulting in a chimeric EWS/WTI transcript that is diagnostic of this tumor. This transcript codes for a protein that acts as a transcriptional activator that fails to suppress tumor growth.

Symtoms of disease include abdominal pain, abdominal mass, gastrointestinal obstruction, ascites, possible anemia, and cachexia.

Pathology reveals well circumscribed solid tumor nodules within a dense desmoplastic stroma. Often areas of central necrosis are present. Tumor cells have hyperchromatic nuclei with increased nuclear/cytoplasmic ratio.

On immunohistochemistry, these cells have trilinear coexpression including the epithelial marker cytokeratin, the mesenchymal markers desmin and vimentin, and the neuronal marker neuron-specific enolase. Thus, although initially thought to be of mesothelial origin due to sites of presentation, it is now hypothesized to arise from a progenitor cell with multiphenotypic differentiation.

At this time, the prognosis for desmoplastic small round cell tumor is poor, less than 20%. Usually, by the time the disease is diagnosed the tumor has already grown large within the abdomen and metastasized or seeded to other parts of the body.

Although the tumors are described as chemo-resistant, there is treatment for the disease. Recent journals have reported that some patients respond to high dose chemotherapy, debulking operation , and radiation therapy. Other treatment options considered include: Autologous Stem cell Transplant, Intensity-Modulated Radiation Therapy, Stereotactic Body radiation therapy, and Intraperitoneal hyperthermic chemoperfusion.

This disease is also known as: Desmoplastic small round blue cell tumor; Intraabdominal desmoplastic small round blue cell tumor; Desmoplastic small cell tumor; Desmoplastic sarcoma; DSRCT.

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Desmoplastic small round cell tumor of the lung
From Archives of Pathology & Laboratory Medicine, 7/1/03 by Stopyra, Gary A

To the Editor-I read with interest the recent article entitled "Desmoplastic Small Round Cell Tumor of the Lung" by Syed et al.1 The authors thoroughly established the unique immunohistochemical, ultrastructural, and molecular genetic features of this lesion. However, either the authors, reviewer, or copy editor did not carefully mind their p's and q'sliterally.

The t(11;22) translocation in this neoplasm indeed involves the EWS and WT1 loci; however, the WT1 locus is at 11p13, not 11q13.2,3 While the translocation is incorrectly identified as t(11;22)(q13;q12) in the "Abstract," "Report of a Case," and "Comment" sections, the references alternate between p13 and q13. I have seen this error elsewhere in the literature, including an earlier edition of a prominent text on soft tissue tumors.4

As molecular genetic techniques assume a more prominent role in diagnostic surgical pathology, it will become increasingly important for us all to become familiar with these new methodologies and to maintain vigilance in applying the nomenclature correctly. For example, note that the t(11;22)(q24;q12) translocation seen in the Ewing/peripheral neuroectodermal tumor family of neoplasms is quite different than the t(11; 22)(p13;q12) translocation seen in the desmoplastic small round cell tumor.2

GARY A. STOPYRA, MD

Department of Pathology

Pennsylvania Hospital

Philadelphia, PA 19107

1. Syed S, Haque AK, Hawkins HK, Sorensen PHB, Cowan DF. Desmoplastic small round cell tumor of the lung. Arch Pathol Lab Med. 2002;126: 1226-1228.

2. Argatoff LH, O'Connell JX, Mathers JA, Gilks CB, Sorensen PHB. Detection of the EWS-WT1 gene fusion by reverse transcriptase-polymerase chain reaction in the diagnosis of intra-abdominal desmoplastic small round cell tumor. Am J Surg Pathol. 1996;20:406-412.

3. Sawyer JR, Tryka AF, Lewis JM. A novel reciprocal chromosome translocation t(11;22)(pl3;ql2) in an intraabdominal desmoplastic small round cell tumor. AmJ Surg Pathol. 1992;16:411-416.

4. Enzinger FM, Weiss SW. Malignant soft tissue tumors of uncertain type. In: Enzinger FM, Weiss SW, eds. Soft Tissue Tumors. 3rd ed. St Louis, Mo: Mosby-Year Book; 1995:1085-1087. Editor Note.-The authors have acknowledged the error that appears in their published report,, as stated in the letter from Dr Stopyra. Specifically, the translocation reported as t(11;22)(q13;q12) should have read t(11;22)(p13;q12).

1. Syed S, Haque AK, Hawkins HK, Sorensen PHB, Cowan DF. Desmoplastic small round cell tumor of the lung. Arch Pathol Lab Med. 2002;126: 1226-1228.

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