双重击中清细胞细胞癌与生殖系致病性ATM突变和体质VHL突变的双重打击
Kok Hoe Chan1, Nicolas Duque Clavijo1, Gustavo Ayala1
1The University of Texas Health Science Center at Houston, USA.
Journal of investigative medicine high impact case reports
|October 6, 2024
概括
在细胞癌 (RCC) 中罕见的生殖系ATM突变可能会增加癌症风险. 这个病例显示了一个患有生殖线ATM突变和RCC的患者,突出显示了需要加强受影响个体的查.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 癌症生物学 癌症生物学
背景情况:
- 细胞癌 (RCC) 与生活方式因素有关,但遗传性综合征占~3%的病例.
- 在NCCN的指导方针中列出了7种与增加RCC风险相关的遗传综合征.
- 像ATM这样的DNA修复基因中的生殖系突变增加了癌症的易感性,尽管RCC不是ATM突变的传统关联.
研究的目的:
- 在患有生殖系致病性ATM突变的患者中报告清细胞细胞癌 (ccRCC) 的病例.
- 为了说明"双击"现象,涉及RCC的生殖线ATM和体质VHL突变.
- 强调在RCC风险评估和查协议中考虑生殖线ATM突变的重要性.
主要方法:
- 一个68岁的妇女患有生殖系致病性ATM突变 (c.8786+1 G>A) 的病例报告.
- 分析患者透明细胞RCC中的遗传突变,包括获得的体质VHL突变.
- 家庭病史的审查,注意到一个兄弟患有胰腺癌和前列腺癌,共享相同的生殖基因突变.
主要成果:
- 患者患有高危清细胞RCC.
- 该RCC表现出随后获得的体质VHL突变,以及血清细胞瘤.
- 患者的兄弟携带相同的生殖系ATM突变,被诊断患有胰腺癌和前列腺癌.
结论:
- 细菌系致病性ATM突变可能有助于RCC的发展,可能是通过"双击"机制.
- 在具有生殖系致病性ATM突变的个体中,加强对RCC的查是有必要的.
- 对具有双重遗传变异的瘤进行向治疗的进一步研究至关重要.
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