Abstract：
Myotonic dystrophies (DMs) are autosomal dominant diseases in which expression of a mutant expanded repeat mRNA leads to abnormal splicing of downstream effector genes thought to be responsible for their multisystem involvement. Cancer risk and cancer-related deaths are increased in DM patients relative to the general population. We aimed at determining the frequency and type of cancers in both DM1 and DM2 vs a non-DM muscular dystrophy cohort.
A retrospective, cross-sectional study was carried out on patients with genetically confirmed DM1, DM2, facioscapulohumeral muscular dystrophy (FSHD), and oculopharyngeal muscular dystrophy (OPMD) at our institutions from 2000 to 2020.
One hundred eighty-five DM1, 67 DM2, 187 FSHD, and 109 OPMD patients were included. Relative to non-DM, DM patients had an increased cancer risk that was independent of age and sex. Specifically, an increased risk of sex-related (ovarian) and non-sex-related (non-melanoma skin, urological, and hematological) cancers was observed in DM1 and DM2, respectively. The length of CTG repeat expansion was not associated with cancer occurrence in the DM1 group.
In addition to current consensus-based care recommendations, our findings prompt consideration of screening for skin, urological, and hematological cancers in DM2 patients, and screening of ovarian malignancies in DM1 female patients.
A retrospective, cross-sectional study was carried out on patients with genetically confirmed DM1, DM2, facioscapulohumeral muscular dystrophy (FSHD), and oculopharyngeal muscular dystrophy (OPMD) at our institutions from 2000 to 2020.
One hundred eighty-five DM1, 67 DM2, 187 FSHD, and 109 OPMD patients were included. Relative to non-DM, DM patients had an increased cancer risk that was independent of age and sex. Specifically, an increased risk of sex-related (ovarian) and non-sex-related (non-melanoma skin, urological, and hematological) cancers was observed in DM1 and DM2, respectively. The length of CTG repeat expansion was not associated with cancer occurrence in the DM1 group.
In addition to current consensus-based care recommendations, our findings prompt consideration of screening for skin, urological, and hematological cancers in DM2 patients, and screening of ovarian malignancies in DM1 female patients.
摘要：
目的：肌强直性营养不良（DM）是常染色体显性遗传疾病，其中突变型扩增重复mRNA的表达导致下游效应基因的异常剪接，被认为是其多系统参与的原因。与一般人群相比，DM患者的癌症风险和癌症相关死亡增加。我们旨在调查DM1和DM2中癌症的频率和类型非DM型肌营养不良队列。
方法：从2000年到2020年，在我们的机构对遗传证实的DM1，DM2，面肩肱骨肌营养不良（FSHD）和眼咽肌营养不良（OPMD）的患者进行了回顾性横断面研究。
结果：185DM1、67DM2、187FSHD，纳入109例OPMD患者。相对于非DM，DM患者的癌症风险增加，与年龄和性别无关。具体来说,性相关（卵巢）和非性别相关（非黑色素瘤皮肤，在DM1和DM2中分别观察到泌尿科和血液科）癌症。在DM1组中，CTG重复扩增的长度与癌症发生无关。
结论：除了目前基于共识的护理建议，我们的发现促使人们考虑对皮肤进行筛查，DM2患者的泌尿系统和血液系统癌症，DM1女性患者卵巢恶性肿瘤的筛查。本文受版权保护。保留所有权利。
方法：从2000年到2020年，在我们的机构对遗传证实的DM1，DM2，面肩肱骨肌营养不良（FSHD）和眼咽肌营养不良（OPMD）的患者进行了回顾性横断面研究。
结果：185DM1、67DM2、187FSHD，
结论：除了目前基于共识的护理建议，
