Open AccessKlippel–Trenaunay and Sturge–Weber Overlap Syndrome with KRAS and GNAQ mutations
Author(s) -
He Ruojie,
Liao Songjie,
Yao Xiaoli,
Huang Ruxun,
Zeng Jinsheng,
Zhang Jian,
Yu Jian
Publication year - 2020
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51106
Subject(s) - gnaq , medicine , sturge–weber syndrome , kras , hemangioma , somatic cell , germline mutation , phenotype , pathology , vascular malformation , mutation , cancer research , genetics , dermatology , cancer , surgery , biology , colorectal cancer , gene
Patients with combined phenotypes of Sturge–Weber syndrome and Klippel–Trenaunay syndrome have been reported, though the underlying genetic spectrum in these individuals remains to be elucidated. We reported the patient presenting with Klippel–Trenaunay and Sturge–Weber overlap syndrome in mainland China. Histopathologic study confirmed the hemangioma of vein and capillary. Co‐existence of a novel somatic KRAS c.182_183 delins TC mutation and GNAQ c.548G>A mutation was identified in the affected skin tissue rather than paired peripheral blood. The somatic mutations of GNAQ and KRAS may affect MAPK‐ERK signaling pathway, resulting in endothelial anomaly and blood vessel malformation.