Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations

Akifumi Nozawa, Akihiro Fujino, Shunsuke Yuzuriha, Souichi Suenobu, Aiko Kato, Fumiaki Shimizu, Noriko Aramaki-Hattori, Kanako Kuniyeda, Kazuya Sakaguchi, Hidenori Ohnishi, Yoko Aoki, Michio Ozeki

研究成果: Article査読

抄録

Recent studies have shown that the PI3K signaling pathway plays an important role in the pathogenesis of slow-flow vascular malformations (SFVMs). Analysis of genetic mutations has advanced our understanding of the mechanisms involved in SFVM pathogenesis and may identify new therapeutic targets. We screened for somatic variants in a cohort of patients with SFVMs using targeted next-generation sequencing. Targeted next-generation sequencing of 29 candidate genes associated with vascular anomalies or with the PI3K signaling pathway was performed on affected tissues from patients with SFVMs. Fifty-nine patients with SFVMs (venous malformations n = 21, lymphatic malformations n = 27, lymphatic venous malformations n = 1, and Klippel–Trenaunay syndrome n = 10) were included in the study. TEK and PIK3CA were the most commonly mutated genes in the study. We detected eight TEK pathogenic variants in 10 samples (16.9%) and three PIK3CA pathogenic variants in 28 samples (47.5%). In total, 37 of 59 patients (62.7%) with SFVMs harbored pathogenic variants in these three genes involved in the PI3K signaling pathway. Inhibitors of this pathway may prove useful as molecular targeted therapies for SFVMs.

本文言語English
ページ(範囲)721-728
ページ数8
ジャーナルJournal of Human Genetics
67
12
DOI
出版ステータスPublished - 2022 12月

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

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