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Mutational analysis using Sanger and next generation sequencing in sporadic spindle cell hemangiomas: A study of 19 cases.

Genes, chromosomes & cancer - 1 Dec 2017

Ten Broek Roel W, Bekers Elise M, de Leng Wendy W J, Strengman Eric, Tops Bastiaan B J, Kutzner Heinz, Leeuwis Jan Willem, van Gorp Joost M, Creytens David H, Mentzel Thomas, van Diest Paul J, Eijkelenboom Astrid, Flucke Uta

Abstract excerpt

Spindle cell hemangioma (SCH) is a distinct vascular soft-tissue lesion characterized by cavernous blood vessels and a spindle cell component mainly occurring in the distal extremities of young adults. The majority of cases harbor heterozygous mutations in IDH1/2 sporadically or rarely in association with Maffucci syndrome. However, based on mosaicism and accordingly a low percentage of lesional cells harboring a...

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Identifiers

PMID: 28845532
DOI: 10.1002/gcc.22501

Genes

IDH1
IDH2

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