Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome.

ABSTRACT: Maffucci syndrome is a rare, highly variable somatic mosaic condition, and well-known cancer-related gain-of-function variants in either the IDH1 or IDH2 genes have been found in the affected tissues of most reported individuals. Features include benign enchondroma and spindle-cell hemangioma, with a recognized increased risk of various malignancies. Fewer than 200 affected individuals have been reported; therefore, accurate estimates of malignancy risk are difficult to quantify and recommended surveillance guidelines are not available. The same gain-of-function IDH1 and IDH2 variants are also implicated in a variety of other benign and malignant tumors. An adult male presented with several soft palpable lesions on the right upper limb. Imaging and histopatholog

SUBMITTER: Brown NJ 

PROVIDER: S-EPMC8751415 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature