Somatic activating BRAF variants cause isolated lymphatic malformations.

ABSTRACT: Somatic activating variants in PIK3CA, the gene that encodes the p110α catalytic subunit of phosphatidylinositol 3-kinase (PI3K), have been previously detected in ∼80% of lymphatic malformations (LMs).^{1 , 2} We report the presence of somatic activating variants in BRAF in individuals with LMs that do not possess pathogenic PIK3CA variants. The BRAF substitution p.Val600Glu (c.1799T>A), one of the most common driver mutations in cancer, was detected in multiple individuals with LMs. Histology revealed abnormal lymphatic channels with immunopositivity for BRAF^V600E in endothelial cells that was otherwise indistinguishable from PIK3CA-positive LM. The finding that BRAF variants contribute to low-flow LMs incr

SUBMITTER: Zenner K 

PROVIDER: S-EPMC8972000 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature