Clinical and genetic analyses of patients with lateralized overgrowth
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...
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| Format: | Article |
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BMC
2022-09-01
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| Series: | BMC Medical Genomics |
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| Online Access: | https://doi.org/10.1186/s12920-022-01362-1 |
| _version_ | 1811253645671399424 |
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| author | Yoon-Myung Kim Yena Lee Yunha Choi In Hee Choi Sun Hee Heo Jung Min Choi Hyo-Sang Do Ja-Hyun Jang Mi-Sun Yum Han-Wook Yoo Beom Hee Lee |
| author_facet | Yoon-Myung Kim Yena Lee Yunha Choi In Hee Choi Sun Hee Heo Jung Min Choi Hyo-Sang Do Ja-Hyun Jang Mi-Sun Yum Han-Wook Yoo Beom Hee Lee |
| author_sort | Yoon-Myung Kim |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-12T16:54:07Z |
| format | Article |
| id | doaj.art-c089b3d5ca8a4853bb48a1e9a785b7df |
| institution | Directory Open Access Journal |
| issn | 1755-8794 |
| language | English |
| last_indexed | 2024-04-12T16:54:07Z |
| publishDate | 2022-09-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj.art-c089b3d5ca8a4853bb48a1e9a785b7df2022-12-22T03:24:18ZengBMCBMC Medical Genomics1755-87942022-09-0115111110.1186/s12920-022-01362-1Clinical and genetic analyses of patients with lateralized overgrowthYoon-Myung Kim0Yena Lee1Yunha Choi2In Hee Choi3Sun Hee Heo4Jung Min Choi5Hyo-Sang Do6Ja-Hyun Jang7Mi-Sun Yum8Han-Wook Yoo9Beom Hee Lee10Department of Pediatrics, Gangneung Asan Hospital, College of Medicine, University of UlsanDepartment of Pediatrics, Asan Medical Center Children’s Hospital, College of Medicine, University of UlsanDepartment of Pediatrics, Asan Medical Center Children’s Hospital, College of Medicine, University of UlsanDepartment of Pediatrics, Asan Medical Center Children’s Hospital, College of Medicine, University of UlsanAsan Medical Center, Asan Institute for Life Sciences, College of Medicine, University of UlsanAsan Medical Center, Asan Institute for Life Sciences, College of Medicine, University of UlsanAsan Medical Center, Asan Institute for Life Sciences, College of Medicine, University of UlsanDepartment of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of MedicineDepartment of Pediatrics, Asan Medical Center Children’s Hospital, College of Medicine, University of UlsanDepartment of Pediatrics, Asan Medical Center Children’s Hospital, College of Medicine, University of UlsanDepartment of Pediatrics, Asan Medical Center Children’s Hospital, College of Medicine, University of UlsanAbstract 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.https://doi.org/10.1186/s12920-022-01362-1PIK3CA-related segmental overgrowth syndromeLateralized overgrowthAlpelisibTargeted exome sequencing |
| spellingShingle | Yoon-Myung Kim Yena Lee Yunha Choi In Hee Choi Sun Hee Heo Jung Min Choi Hyo-Sang Do Ja-Hyun Jang Mi-Sun Yum Han-Wook Yoo Beom Hee Lee Clinical and genetic analyses of patients with lateralized overgrowth BMC Medical Genomics PIK3CA-related segmental overgrowth syndrome Lateralized overgrowth Alpelisib Targeted exome sequencing |
| title | Clinical and genetic analyses of patients with lateralized overgrowth |
| title_full | Clinical and genetic analyses of patients with lateralized overgrowth |
| title_fullStr | Clinical and genetic analyses of patients with lateralized overgrowth |
| title_full_unstemmed | Clinical and genetic analyses of patients with lateralized overgrowth |
| title_short | Clinical and genetic analyses of patients with lateralized overgrowth |
| title_sort | clinical and genetic analyses of patients with lateralized overgrowth |
| topic | PIK3CA-related segmental overgrowth syndrome Lateralized overgrowth Alpelisib Targeted exome sequencing |
| url | https://doi.org/10.1186/s12920-022-01362-1 |
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