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Volume 2010, Article ID 458156, 4 pages
Case Report

A V530I Mutation in c-KIT Exon 10 Is Associated to Imatinib Response in Extraabdominal Aggressive Fibromatosis

1Pôle d’Hématologie et d’Oncologie, Hôpitaux Universitaires de Strasbourg, 67098 Strasbourg, France
2Pôle de Biologie, Hôpitaux Universitaires de Strasbourg, 67098 Strasbourg, France
3Service d’Anatomie pathologique, Hôpitaux Universitaires de Strasbourg, 67098 Strasbourg, France
4Service d’Oncologie Médicale, Centre Hospitalier de Chambéry, 73011, France
5Service d’Oncologie Médicale, Centre Hospitalier Universitaire, 31052 Toulouse, France

Received 5 October 2009; Revised 4 January 2010; Accepted 25 January 2010

Academic Editor: Irene Andrulis

Copyright © 2010 Jean-Emmanuel Kurtz et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Aggressive fibromatosis (AF) or desmoid tumor is a rare condition, characterized by deep tissue invasion by a monoclonal fibroblastic neoplasm, developed from musculoaponeurotic structures. Surgery is the treatment of choice, but negative margins can hardly been achieved in large tumors, and can lead to major functional disability. AF medical therapy includes nonsteroids anti-inflammatory drugs, tamoxifen, with inconsistent results. Several reports of imatinib efficacy in AF appear in the literature. Here, we describe for the first time a V530I KIT exon 10 mutant that was associated to a dramatic imatinib response in an extraabdominal aggressive fibromatosis. The previously discovered V530I substitution was characterized in the core binding factor AML, but had never been reported in any other condition, so far. In this paper, we discuss the KIT exon 10 mutations or polymorphisms that have been described in a variety of KIT-related conditions, including acute myelogenous leukemia, mastocytosis, and aggressive fibromatosis.