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肌肉发育不良和肌肉发育不良患者的癌症风险:基于注册的队列研究

Carolina Maya-González¹, Giorgio Tettamanti¹, Fulya Taylan¹

¹From the Department of Molecular Medicine and Surgery, Center for Molecular Medicine (C.M.G., G.T., F.T., A.S.N., A.N.), Unit of Epidemiology, Institute of Environmental Medicine (G.T.), and Department of Women's and Children's Health (T.S.), Karolinska Institutet; Department of Clinical Genetics and Genomics (F.T., A.N.), Department of Radiology (A.S.N.), and Department of Child Neurology, Astrid Lindgren Children's Hospital (T.S.), Karolinska University Hospital, Stockholm; Department of Clinical Genetics and Genomics (A.N.), Sahlgrenska University Hospital, Gothenburg; and Institute of Biomedicine, Department of Laboratory Medicine (A.N.), University of Gothenburg, Sweden.

|September 19, 2024

概括

这项研究没有发现肌肉发育不良的整体癌症风险增加,但确定了儿童脑瘤和成人非甲状腺内分泌和胰腺癌的风险更高. 肌性缩症患者患儿脑瘤和几种成人癌症的风险增加,包括非甲状腺内分泌瘤.

科学领域:

神经学神经学
在瘤学瘤学.
遗传学是一个遗传学.
流行病学流行病学

背景情况:

肌肉发育不良和肌肉发育不良是导致肌肉逐渐退化的遗传疾病.
之前的研究表明,肌性缩症的癌症风险较高,但该范围尚未明确定义.
肌肉发育不良的癌症风险仍然不确定.

研究的目的:

研究肌肉发育不良和肌肉发育不良患者的整体癌症风险和特定癌症类型.
利用瑞典国家登记处的数据进行全面的流行病学分析.

主要方法:

采用了匹配的队列研究设计,包括在瑞典在1950-2017年间被诊断患有肌肉发育不良或肌肉发育不良的患者.
每位患者与50名对照人群进行匹配,根据性别,出生年份和出生县进行匹配.
用分层的Cox比例危险模型来估计癌症风险.

主要成果:

在肌肉衰竭患者中没有观察到整体癌症风险升高.
肌肉发育不良的患者表现出儿童期星细胞瘤/质瘤,成人非甲状腺内分泌癌和胰腺癌的风险增加.
肌性缩症患者患儿脑瘤,成人脑瘤,甲状腺癌,非甲状腺内分泌癌,子宫内膜癌,卵巢癌和非黑色素瘤皮肤癌的风险增加.

结论:

这项研究首次报告了儿童和成人中枢神经系统瘤的风险增加,以及肌肉衰竭中非甲状腺内分泌和胰腺癌的风险增加.
证实了以前报告的肌性衰变中的癌症关联,并增加了增加非甲状腺内分泌癌症风险的发现.
在调整癌症查指南之前,需要进一步的研究来确认这些癌症风险,并探索遗传亚型变异.

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