Yeung Kit San, Ip Janice Jing Kun, Chow Chin Pang, Kuong Evelyn Yue Ling, Tam Paul Kwong-Hang, Chan Godfrey Chi-Fung, Chung Brian Hon-Yin
Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Department of Radiology, Queen Mary Hospital, Hong Kong, China.
Am J Med Genet A. 2017 Apr;173(4):978-984. doi: 10.1002/ajmg.a.38105.
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.
PIK3CA基因的体细胞突变会导致许多过度生长综合征，这些综合征最近被统称为“PIK3CA相关过度生长谱系”。在此，我们报告了7例经分子学确诊的PIK3CA相关过度生长谱系患者，包括患有先天性脂肪瘤样过度生长、血管畸形、表皮痣、脊柱侧弯/骨骼和脊柱综合征、克-特综合征、淋巴管畸形的患者，以及2例具有非典型表型、无法归类到现有疾病类别的患者。关于PIK3CA相关过度生长谱系的文献表明，在约90%没有脑部过度生长的患者中可检测到PIK3CA基因的c.1258T>C；p.(Cys420Arg)、c.1624G>A；p.(Glu542Lys)、c.1633G>A；p.(Glu545Lys)、c.3140A>G；p.(His1047Arg)和c.3140A>T；p.(His1047Leu)突变。因此，针对这些突变热点的液滴数字聚合酶链反应可作为对没有中枢神经系统过度生长迹象的PIK3CA相关过度生长谱系患者进行的一级基因检测。© 2017威利期刊公司
