C9ORF72 重复扩展携带者黑色素瘤风险增加：一项病例对照研究。
Increased risk of melanoma in C9ORF72 repeat expansion carriers: A case-control study.
机构信息
CHUC, Serviço de Neurologia, Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal.
Faculty of Medicine, University of Coimbra, Portugal.
出版信息
Muscle Nerve. 2019 Mar;59(3):362-365. doi: 10.1002/mus.26383. Epub 2018 Dec 27.
INTRODUCTION
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are considered part of the same pathological spectrum. There is an increased risk of ALS in patients who have had melanoma. The risk of FTLD in melanoma (or cancer) patients is unknown. We aimed to study if C9ORF72 expansion is linked to a higher prevalence of melanoma.
METHODS
We selected patients with a diagnosis in the ALS-FTLD spectrum who were tested for pathogenic mutations. Medical history was reviewed, to identify those with pathologically documented melanomas.
RESULTS
We included 189 patients. Sixty-two had identified pathogenic mutations (39 C9ORF72). C9ORF72 carriers had a significantly higher risk of melanoma (odds ratio = 24.709; P < 0.007). There was no association with phenotype.
CONCLUSIONS
These findings suggest that patients with a history of melanoma may have an increased probability of carrying a C9ORF72 repeat expansion. ALS or FTLD carriers of C9ORF72 should undergo surveillance for skin changes. Muscle Nerve 59:362-365, 2019.
简介
肌萎缩侧索硬化症（ALS）和额颞叶变性（FTLD）被认为属于同一病理谱。患有黑色素瘤的患者患 ALS 的风险增加。黑色素瘤（或癌症）患者患 FTLD 的风险尚不清楚。我们旨在研究 C9ORF72 扩展是否与更高的黑色素瘤患病率有关。
方法
我们选择了在 ALS-FTLD 谱中接受致病性突变检测的诊断患者。回顾了病史，以确定那些有病理记录的黑色素瘤患者。
结果
我们纳入了 189 名患者。其中 62 名患者确定存在致病性突变（39 名 C9ORF72）。C9ORF72 携带者患黑色素瘤的风险显著增加（优势比=24.709；P<0.007）。与表型无关。
结论
这些发现表明，有黑色素瘤病史的患者可能携带 C9ORF72 重复扩展的可能性增加。应监测 C9ORF72 的 ALS 或 FTLD 携带者的皮肤变化。肌肉神经 59:362-365, 2019。
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