Article
R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malformations.
The American journal of pathology - 1 May 2013
Kurek Kyle C, Pansuriya Twinkal C, van Ruler Maayke A J H, van den Akker Brendy, Luks Valerie L, Verbeke Sofie L J, Kozakewich Harry P, Sciot Raf, Lev Dina, Lazar Alexander J, Fletcher Christopher D M, Bovée Judith V M G
Abstract excerpt
Spindle cell hemangioma (SCH) is a rare, benign vascular tumor of the dermis and subcutis. The lesions can be multifocal and are overrepresented in Maffucci syndrome, in which patients also have multiple enchondromas. Somatic mosaic R132C IDH1 hotspot mutations were recently identified in Maffucci syndrome. We evaluated the presence of mutations in solitary and multiple SCHs in patients without multiple...
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