Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.
Somatic mutations in PIK3CA cause many overgrowth syndromes that have been recently coined the "PIK3CA-Related Overgrowth Spectrum." Here, we present seven molecularly confirmed patients with PIK3CA-Related Overgrowth Spectrum, including patients with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal syndrome, Klippel-Trenaunay syndrome, lymphatic malformation and two with atypical phenotypes that cannot be classified into existing disease categories. The literature on PIK3CA-Related Overgrowth Spectrum, suggests that PIK3CA c.1258T>C; p.(Cys420Arg), c.1624G>A; p.(Glu542Lys), c.1633G>A; p.(Glu545Lys), c.3140A>G; p.(His1047Arg), and c.3140A>T; p.(His1047Leu) can be identified in approximately 90% of patients without brain overgrowth. Therefore, droplet digital polymerase chain reaction targeting these mutation hotspots could be used as the first-tier genetic test on patients with PIK3CA-Related Overgrowth Spectrum who do not have signs of overgrowth in their central nervous system. © 2017 Wiley Periodicals, Inc.
Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Kit San
KS
Yeung
Department of Radiology, Queen Mary Hospital, Hong Kong, China.
Janice Jing Kun
JJ
Ip
Child Assessment Service, Department of Health, Hong Kong, China.
Chin Pang
CP
Chow
Department of Orthopaedics and Traumatology, Queen Mary Hospital, Hong Kong, China.
Evelyn Yue Ling
EY
Kuong
Division of Paediatric Surgery, Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Paul Kwong-Hang
PK
Tam
Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Godfrey Chi-Fung
GC
Chan
Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Brian Hon-Yin
BH
Chung
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D058534:Class I Phosphatidylinositol 3-Kinases / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D056726:Genetic Association Studies; D005820:Genetic Testing; D006801:Humans; D007715:Klippel-Trenaunay-Weber Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D009506:Nevus / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods; D012600:Scoliosis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D054079:Vascular Malformations / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human
PIK3CA; PIK3CA-related overgrowth spectrum; somatic mosaicism