Recurrent somatic mutations of PRKAR1A in isolated cardiac myxoma.

ABSTRACT:

Background

Cardiac myxomas are benign tumors that commonly arise within the left atria. Familial cardiac myxomas are a part of Carney Complex (CNC), an autosomal dominant multiple neoplasia syndrome caused by germline mutations in PRKAR1A. Seven percent of cardiac myxomas are associated with CNC. To date, the genetic basis of isolated cardiac myxomas (ICM), however, has not been fully elucidated.

Methods

We investigated the genetic profile of ICM using whole exome sequencing (WES). Suspected mutations were confirmed using targeted sanger sequencing. To further examine the presence of PRKAR1A mutations in ICM, we performed targeted sequencing in an additional 61 ICM specimens.

Results

87.5% (7/8) of ICM harbored mutations in PRKAR1A. Three of the 8

SUBMITTER: He J 

PROVIDER: S-EPMC5732779 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature