IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci's Syndrome.

ABSTRACT:

Background

Maffucci's syndrome is characterized by the coexistence of multiple enchondromas and soft-tissue hemangiomas. It has been clear that somatic mosaic isocitrate dehydrogenase type 1 (IDH1) or isocitrate dehydrogenase type 2 (IDH2) mutations are associated with Maffucci's syndrome and Ollier disease, but the mechanisms underlying hemangiomas of the Maffucci's syndrome is still obscure. This study aimed to determine the mechanism of hemangiomas in Maffucci's syndrome.

Methods

We received a 26-year-old female patient with typical Maffucci's syndrome, and exome sequencing was conducted using DNA from her peripheral blood and enchondroma tissues. Somatic mutations were characterized by a comparative analysis of exome sequences and further confirmed by the sequencing of P

SUBMITTER: Cheng P 

PROVIDER: S-EPMC8591216 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature