在一名双侧视网膜母细胞瘤患者中鉴定出一种新的RB1基因新生突变。
A novel de-novo RB1 mutation identified in a patient with bilateral retinoblastoma.
作者信息
Fukushima Hiroko, Suzuki Ryoko, Hiraoka Takahiro, Suzuki Shigenobu, Noguchi Emiko, Takada Hidetoshi
机构信息
Department of Child Health, Institution of Medicine, University of Tsukuba, Ibaraki, Japan.
Department of Ophthalmology, Institution of Medicine, University of Tsukuba, Ibaraki, Japan.
出版信息
Jpn J Clin Oncol. 2023 Aug 30;53(9):863-865. doi: 10.1093/jjco/hyad064.
Retinoblastoma manifests as ocular malignancy due to mutations in the RB1 gene. A 17-month-old girl with bilateral retinoblastoma having no family history was admitted to our hospital. The right eye was enucleated but the other was preserved with systemic chemotherapy and topical treatment. The patient has been tumor-free for over 7 years since diagnosis. All exons of RB1 were sequenced and a novel 1-base pair deletion (NM_000321.2:c.2409del, p.Asn803Lysfs*7) was detected.
视网膜母细胞瘤由于RB1基因突变而表现为眼部恶性肿瘤。一名17个月大、无家族病史的双侧视网膜母细胞瘤女孩被收治入我院。右眼被摘除，而另一只眼通过全身化疗和局部治疗得以保留。自诊断以来，该患者已无肿瘤生存超过7年。对RB1的所有外显子进行了测序，检测到一个新的1个碱基对的缺失（NM_000321.2:c.2409del，p.Asn803Lysfs*7）。
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