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在患有双边视网膜母细胞瘤的患者中发现了一种新的de-novo RB1突变
Hiroko Fukushima1, Ryoko Suzuki1, Takahiro Hiraoka2
1Department of Child Health, Institution of Medicine, University of Tsukuba, Ibaraki, Japan.
Japanese journal of clinical oncology
|June 22, 2023
概括
一个新的RB1基因突变导致双边视网膜母细胞瘤在一个没有家族病史的孩子. 基因测序发现了1个基对的删除,导致了成功的治疗和7年无瘤的结果.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 眼科医生 眼科 眼科
背景情况:
- 视网母细胞瘤是一种主要的眼部恶性瘤.
- RB1基因的突变是视网膜母细胞瘤的主要原因.
- 双边视网膜母细胞瘤可以发生在没有家族病史的情况下.
研究的目的:
- 在儿科患者中确定双边视网膜母细胞瘤的遗传基础.
- 报告与视网膜母细胞瘤相关联的RB1基因中的新突变.
- 为了记录一个用联合方式治疗的视网膜母细胞瘤病例的长期结果.
主要方法:
- 记录了一名患有双边视网膜母细胞瘤的17个月大女孩的临床表现和治疗.
- 患者接受了右眼的核切除和左眼的保存,使用化疗和局部治疗.
- 测序了RB1基因的所有前基因,以确定致病突变.
主要成果:
- 在RB1基因 (NM_000321.2:c.2409del, p.Asn803Lysfs*7) 中发现了一种新的1基对删除.
- 患者在诊断后的7年里一直没有瘤.
- 实现了双边视网膜母细胞瘤的成功管理.
结论:
- 在RB1基因中的生殖系突变甚至在没有家族史的情况下也可能导致视网膜母细胞瘤.
- 早期诊断和多模式治疗对于视网膜母细胞瘤的良好结果至关重要.
- 识别新的RB1突变有助于理解视网膜母细胞瘤的发病过程.
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