Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.
Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.
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DOI：
10.1002/ajmg.a.38105
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发表时间：
2017-04-01
期刊：
影响因子：
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通讯作者：
Chung, Brian Hon-Yin
中科院分区：
文献类型：
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作者：
Yeung, Kit San;Ip, Janice Jing Kun;Chung, Brian Hon-Yin
PIK 3CA的体细胞突变导致许多过度生长综合征，最近被称为“PIK 3CA相关过度生长谱”。“在这里，我们提出了7名分子证实的PIK 3CA相关过度生长谱患者，包括先天性脂肪瘤过度生长，血管畸形，表皮痣，脊柱侧凸/脊柱侧凸和脊柱综合征，Klippel-Trenaunay综合征，淋巴管畸形和2名非典型表型患者，这些患者无法归类为现有疾病类别。关于PIK 3CA相关过度生长谱的文献表明PIK 3CA 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.（His 1047 Leu）可以在大约90%的无脑过度生长的患者中鉴定。因此，靶向这些突变热点的液滴数字聚合酶链反应可以用作PIK 3CA相关过度生长谱患者的第一层遗传测试，这些患者在中枢神经系统中没有过度生长的迹象。© 2017 Wiley Periodicals，Inc.
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.