Cancer phenotype in myotonic dystrophy patients: Results from a meta-analysis

Muscle & Nerve
Jose I EmparanzaShahinaz M Gadalla

Abstract

Recent studies have provided evidence that patients with myotonic dystrophy (DM) are at excess risk of cancer. However, inconsistencies regarding affected anatomic sites persist. We performed a meta-analysis of cancer risk in DM, searching among studies published between January 1, 1990 and December 31, 2016. Eligible studies were full reports of DM cohorts with site-specific risks. The analysis included 5 studies, comprising 2,779 patients. Risk estimates for cancers of the endometrium and cutaneous melanoma were reported in all studies. The pooled standardized incidence ratio (pSIRs) for endometrial cancer was 7.48 (95% confidence interval [CI] 4.72-11.8) and for cutaneous melanoma was 2.45 (95% CI 1.31-4.58). Among cancers reported in 4 of 5 studies, elevated risks were observed for thyroid (pSIR = 8.52, 95% CI 3.62-20.1), ovarian (pSIR = 5.56, 95% CI 2.99-10.3), testicular (pSIR = 5.95, 95% CI 2.34-15.1), and colorectal (pSIR = 2.2, 95% CI 1.39-3.49) cancers. Our data refine the DM cancer phenotype, which may guide patient clinical management and inform plans for molecular investigations to understand DM-related carcinogenesis. Muscle Nerve 58: 517-522, 2018.

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Citations

Feb 15, 2019·Orphanet Journal of Rare Diseases·Adrien Ben HamouMarie Christine Vantyghem
Dec 4, 2019·Continuum : Lifelong Learning in Neurology·Nicholas E Johnson
Nov 22, 2019·International Journal of Cancer. Journal International Du Cancer·Rotana AlsaggafShahinaz M Gadalla
Aug 14, 2019·Annals of Clinical and Translational Neurology·Rotana AlsaggafShahinaz M Gadalla
Apr 26, 2020·Nature Communications·Łukasz J SznajderMaurice S Swanson
Feb 7, 2021·Neuromuscular Disorders : NMD·Sarah A CummingMaria Elena Farrugia
May 15, 2021·Current Opinion in Neurology·Federica Montagnese, Benedikt Schoser

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