Back to Search Start Over

Clinical and genetic analyses of patients with lateralized overgrowth.

Authors :
Kim YM
Lee Y
Choi Y
Choi IH
Heo SH
Choi JM
Do HS
Jang JH
Yum MS
Yoo HW
Lee BH
Source :
BMC medical genomics [BMC Med Genomics] 2022 Sep 30; Vol. 15 (1), pp. 206. Date of Electronic Publication: 2022 Sep 30.
Publication Year :
2022

Abstract

Background: 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 />Methods: 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 />Results: 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 />Conclusions: 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.<br /> (© 2022. The Author(s).)

Details

Language :
English
ISSN :
1755-8794
Volume :
15
Issue :
1
Database :
MEDLINE
Journal :
BMC medical genomics
Publication Type :
Academic Journal
Accession number :
36175890
Full Text :
https://doi.org/10.1186/s12920-022-01362-1