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在小儿脑髓母细胞瘤幸存者的病原性生殖系变异的频率

Donald Rees^1,2,3, D Matthew Gianferante^1,3, Jung Kim¹

¹Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Rockville, MD, United States.

Frontiers in oncology

|August 26, 2024

概括

儿童脑髓母细胞瘤幸存者在癌症易感基因 (CSG) 中具有更高的致病/可能致病 (P/LP) 变异率. 这项研究在12.5%的幸存者中确定了P/LP变体,突出了这种儿童大脑瘤的遗传倾向.

科学领域:

遗传学遗传学是一个
儿科瘤学儿科瘤学
癌症研究癌症研究

背景情况:

脑髓母细胞瘤是最常见的儿科恶性脑瘤.
虽然经常是零星的,但APC,ELP1,GPR161,PTCH1,SUFU和TP53等基因的生殖系变化是已知的易感因素.
了解致病性/可能致病性 (P/LP) 变体至关重要,但因基因和定义而异.

研究的目的:

在儿童脑髓母细胞瘤幸存者中调查癌症易感基因 (CSG) 中P/LP变异的频率.
为了比较这些变异在幸存者与对照组之间的流行率.
为了识别与脑髓母细胞瘤倾向相关的特定基因.

主要方法:

在160名童年脑髓母细胞瘤幸存者身上进行了生殖系外体序列测序.
分析了239个已知的CSG中的罕见变体.
使用ClinVar和InterVar识别了P/LP变异,并进一步对已知的脑髓母细胞瘤基因中的功能丧失变异进行了分类.
病例和1,259个没有癌症的成年人对照组之间的变异频率进行了比较.

主要成果:

12.5%的脑髓母细胞瘤幸存者在CSG中携带自体主导的P/LP变异,明显高于对照组的5% (p=1.0 x10-3).
10名幸存者 (6.3%) 在已知的骨髓母细胞瘤倾向基因中具有P/LP变异,这一比例明显高于对照组的0.2% (p=1.4x10-8).
与对照组相比,ELP1和SUFU在病例中显示P/LP变异的频率最高.

结论:

大约八分之一的儿科骨髓母细胞瘤幸存者患有自体主导的P/LP CSG变异.
这项研究证实了已知的脑髓母细胞瘤相关基因,并提出了新的候选基因.
这些发现增强了我们对脑髓母细胞瘤遗传情景的理解.

关键词:

细菌线的生殖线脑髓母细胞瘤是什么意思这是一种致病性病原体.儿科儿科儿科幸存者幸存者幸存者

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