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- Title
Clinical and genetic analyses of patients with lateralized overgrowth.
- Authors
Kim, Yoon-Myung; Lee, Yena; Choi, Yunha; Choi, In Hee; Heo, Sun Hee; Choi, Jung Min; Do, Hyo-Sang; Jang, Ja-Hyun; Yum, Mi-Sun; Yoo, Han-Wook; Lee, Beom Hee
- 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. 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. 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. 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.
- Subjects
LEUCOCYTES; MAGNETIC resonance imaging
- Publication
BMC Medical Genomics, 2022, Vol 15, Issue 1, p1
- ISSN
1755-8794
- Publication type
Article
- DOI
10.1186/s12920-022-01362-1