제1형 신경섬유종증에 동반된 교모세포종 1예: NF1 유전자에서 새로운 돌연변이 c.6766_6767insAA의 발견
A Novel c.6766_6767insAA Mutation in the Neurofibromin Gene in a Patient with Neurofibromatosis Type 1-Associated Glioblastoma
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초록
제1형 신경섬유종증은 neurofibromin 유전자의 돌연변이에 의해발생하는 신경피부증후군으로 상염색체 우성으로 유전된다. 제1형 신경섬유종증 환자들은 종양의 발생 위험이 높으며, 시신경교종이 가장흔히 발생하는 중추신경계 종양이다. 하지만 교모세포종이 소아 제1 형 신경섬유종증에 동반되어 발생하는 경우는 매우 드물다. 저자들은 17세 남아에서 제1형 신경섬유종증과 함께 교모세포종이 동반된매우 드문 증례를 경험하였고, NF1 유전자 분석을 통하여 이전에 보고된 바가 없는 이형접합 c.6766_6767insAA (p.Ser2256Lysfs*4), pathogenic 돌연변이를 발견하였기에 보고하는 바이다.
Abstract
Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous syndrome caused by mutations in the neurofibromin gene. NF-1 patients have a high risk of tumors, and optic glioma is the most commonly observed central nervous system tumor in these patients. However, glioblastoma is extremely rare in pediatric NF-1 patients. Here we report the discovery of a novel heterozygous c.6766_6767insAA (p.Ser2256Lysfs*4), pathogenic mutation in the neurofibromin gene in a 17-year-old boy with NF-1-associated glioblastoma.
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