Journal
BMC MEDICAL GENOMICS
Volume 15, Issue 1, Pages -Publisher
BMC
DOI: 10.1186/s12920-022-01362-1
Keywords
PIK3CA-related segmental overgrowth syndrome; Lateralized overgrowth; Alpelisib; Targeted exome sequencing
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Funding
- Bio & Medical Technology Development Programme of the national research Foundation (NRF) - Korean government [NRF-2018M3A9H1078335]
- National Research Foundation of Korea [2018M3A9H1078335] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)
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Genetic features of lateralized overgrowth were identified using targeted exome sequencing. Propranolol can help reduce vascular symptoms, while a PIK3CA inhibitor is the primary therapeutic strategy for PIK3CA-related overgrowth syndrome.
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.
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