Clinical and genetic analyses of patients with lateralized overgrowth

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. Fifteen patients with lateralized overgrowth were...

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Bibliographic Details
Published in:BMC medical genomics 2022-09, Vol.15 (1), p.1-206, Article 206
Main 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
Format: Article
Language:English
Subjects:
Alpelisib
Body fat
Care and treatment
Diagnosis
Dosage and administration
Drug dosages
FDA approval
Genetic analysis
Genetic disorders
Genomes
Kinases
Lateralized overgrowth
Leukocytes
Magnetic resonance imaging
Mutation
Patients
Pediatrics
PIK3CA-related segmental overgrowth syndrome
Propranolol
Propranolol hydrochloride
Proteins
PTEN protein
Questionnaires
Risk factors
Targeted exome sequencing
Testing
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Summary: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. 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. 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. 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.
ISSN:1755-8794
1755-8794
DOI:10.1186/s12920-022-01362-1