%0 Journal Article
%T Clinical and genetic analyses of patients with lateralized overgrowth.
%A Kim YM
%A Lee Y
%A Choi Y
%A Choi IH
%A Heo SH
%A Choi JM
%A Do HS
%A Jang JH
%A Yum MS
%A Yoo HW
%A Lee BH
%A Kim YM
%A Lee Y
%A Choi Y
%A Choi IH
%A Heo SH
%A Choi JM
%A Do HS
%A Jang JH
%A Yum MS
%A Yoo HW
%A Lee BH
%J BMC Med Genomics
%V 15
%N 1
%D Sep 2022 30
%M 36175890
%F 3.622
%R 10.1186/s12920-022-01362-1
%X <B>BACKGROUND: </B>The genetic features and treatment strategies of lateralized overgrowth have been elusive. We performed this study to analyze the genetic characteristics and treatment results of propranolol- or alpelisib-treated patients with lateralized overgrowth.<BR><B>METHODS: </B>Fifteen patients with lateralized overgrowth were involved. Clinical characteristics and whole-body magnetic resonance imaging (WB-MRI) findings were evaluated. Targeted exome sequencing with a gene panel of affected tissue and peripheral white blood cells was performed. Propranolol was administered and treatment results were evaluated. The PIK3CA inhibitor alpelisib was prescribed via a managed access program.<BR><B>RESULTS: </B>The identified mutations were PIK3CA (n = 7), KRAS (n = 2), PTEN (n = 1), MAP2K3 (n = 1), GNAQ (n = 1), TBC1D4 (n = 1), and TEK (n = 1). Propranolol was prescribed in 12 patients, and 7 experienced mild improvement of symptoms. Alpelisib was prescribed in two patients with a PIK3CA mutation, and the reduction of proliferated masses after 1 year of treatment was proved by WB-MRI.<BR><B>CONCLUSIONS: </B>Targeted exome sequencing identified various genetic features of lateralized overgrowth. Propranolol could be applied as an adjuvant therapy for reducing vascular symptoms, but a PIK3CA inhibitor would be the primary therapeutic strategy for PIK3CA-related overgrowth syndrome.