Cancer Res Treat.  2009 Dec;41(4):233-236.

A Case of Desmoplastic Small Round Cell Tumor Diagnosed in a Young Female Patient

• Kim JW
• Park JH
• Cho HJ
• Kwon JH
• Koh Y
• Kim SJ
• Kim SH
• Lee SH
• Im SA
• Kim YT
• Kim WH

Abstract

Desmoplastic small round cell tumor is a very rare malignancy. We report the case of a 26-year-old woman who suffered from dyspepsia and abdominal pain for 2 months. We performed an endoscopic biopsy of the duodenal mass and diagnosed her disease as desmoplastic small round cell tumor using immunohistochemical staining, fluorescence in situ hybridization, and reverse transcriptase polymerase chain reaction. Because the mass invaded the pancreas and superior mesenteric vein as well as duodenum and the disease was disseminated to liver and peritoneum, she received palliative chemotherapy using vincristine, doxorubicin, cyclophosphamide, ifosfamide, and etoposide. The maximal response to chemotherapy was stable disease. The patient expired 9 months after diagnosis.

Keyword

Desmoplastic small round cell tumor; Fluorescence in situ hybridization; Reverse transcriptase polymerase chain reaction; Chemotherapy

MeSH Terms

Abdominal Pain
Adult
Biopsy
Cyclophosphamide
Desmoplastic Small Round Cell Tumor
Doxorubicin
Duodenum
Dyspepsia
Etoposide
Female
Fluorescence
Glycogen Storage Disease Type VI
Humans
Ifosfamide
In Situ Hybridization
Liver
Mesenteric Veins
Pancreas
Peritoneum
Reverse Transcriptase Polymerase Chain Reaction
Vincristine
Cyclophosphamide
Doxorubicin
Etoposide
Ifosfamide
Vincristine

Figure

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  Fig. 1 Abdominal computerized tomography (CT) scan at diagnosis revealed well-enhanced abdominal masses encircling the 1st and 2nd portion of duodenum (A) and multiple intrahepatic masses (B).

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  Fig. 2 Esophagogastroduodenoscopy revealed a huge protruding ulceroinfiltrative mass in the 2nd portion of duodenum. Further advance of endoscopy beyond this point was impossible due to the mass.

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  Fig. 3 Microscopic findings of duodenoscopic biopsy specimen are as follows: H & E stain (×800) revealed poor differentiation (A) and CD99 (×800) was positive in membranous pattern (B).

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  Fig. 4 Molecular genetic methods were helpful for diagnosis of desmoplastic small round cell tumor. The result of FISH for EWS gene translocation with EWSR1 break apart probe was positive (A) and the result of EWS/Fli1 rearrangement RT-PCR, which is sensitive to Ewing sarcoma/PNET, was negative (B).

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