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p53 gene mutation and MDM2 overexpression in a case of primary malignant fibrous histiocytoma of the jejunum

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Primary malignant fibrous histiocytoma of the gastrointestinal tract is extremely rare. To date, only 10 cases of primary malignant fibrous histiocytoma arising in the small intestine have been reported in the English literature. We describe here the genetic alterations and morphologic features of a primary malignant fibrous histiocytoma arising in the jejunum. Immunohistochemically, the tumor cells expressed vimentin, CD68 and α-1-antitrypsin, but were negative for other markers. Ultrastructurally, they showed features of fibroblasts and histiocytes. Immunohistochemical overexpression of p53 and MDM2 was observed. Mutation analysis of the p53 gene detected a missense mutation in codon 158 of exon 5. Our results suggest that p53 gene mutations and MDM2 overexpression may play an important role in the tumorigenesis. To our knowledge, the present report is the first genetic study of this rare lesion.
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Keywords: MDM2; Malignant fibrous histiocytoma; electron microscopy; immunohistochemistry; p53; small intestine

Document Type: Research Article

Affiliations: 1: Division of Pathology, Central Clinical Laboratory, School of Medicine, Iwate Medical University, Uchimaru, Morioka, 2: Division of Pathology and Cytology, Chuou Rinsyou Clinical Laboratory Corporation, Tsukigaoka, Morioka and 3: Department of Surgery, Iwate Prefecture Kitakami Hospital, Kunenbashi, Kitakami, Japan

Publication date: February 1, 2002

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