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Original Article
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Korean J Med. 2009;76(4):471-475.
- 다운증후군 환자에서 발생한 결합조직형성 소원형세포종양 1예
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이재남, 이상용, 유현석, 장수민, 이동건, 최정문, 박성후
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- A case of desmoplastic small round cell tumor with Down’s syndrome
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Jae Nam Lee, Sang Yong Lee, Hyun Seuk Yu, Su Min Jang, Dong Gun Lee, Jung Mun Choi, Sueong Hu Park
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- Abstract
- A desmoplastic small round cell tumor (DSRCT) is a rare, aggressive neoplasm that occurs predominantly in children and young
men. It presents as a large mass inside the abdomen, particularly within the pelvis, and may be accompanied by extensive tumor implants
throughout the peritoneum. Microscopically, it typically appears as nests of small undifferentiated cells within a desmoplastic
stroma. A DSRCT shows a special immunohistochemical staining pattern, expressing epithelial, neural, and muscle
markers. A DSRCT is associated with a specific chromosomal translocation, t (11;22) (p13;q12), resulting in a chimeric EWS/WT1
transcript that is helpful for diagnosing this tumor. We experienced a case of DSRCT in a 19-year-old man who had been diagnosed
with Down’s syndrome. (Korean J Med 76:471-475, 2009)
Keywords :Small cell tumor, Desmoplastic, Down’s syndrome
