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

ABSTRACT: INTRODUCTION:Recent studies have provided evidence that patients with myotonic dystrophy (DM) are at excess risk of cancer. However, inconsistencies regarding affected anatomic sites persist. METHODS: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. RESULTS: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. DISCUSSION: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.

SUBMITTER: Emparanza JI

PROVIDER: S-EPMC6173974 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature

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

Emparanza Jose I JI López de Munain Adolfo A Greene Mark H MH Matheu Ander A Fernández-Torrón Roberto R Gadalla Shahinaz M SM

Muscle & nerve 20181001 4

<h4>Introduction</h4>Recent studies have provided evidence that patients with myotonic dystrophy (DM) are at excess risk of cancer. However, inconsistencies regarding affected anatomic sites persist.<h4>Methods</h4>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.<h4>Results</h4>The analysis included 5 studies, comprising 2,779 patients. Ris ...[more]

PMID: 30028904

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Project description:CONTEXT:Myotonic muscular dystrophy (MMD) is an autosomal-dominant multisystem neuromuscular disorder characterized by unstable nucleotide repeat expansions. Case reports have suggested that MMD patients may be at increased risk of malignancy, putative risks that have never been quantified. OBJECTIVE:To quantitatively evaluate cancer risk in patients with MMD, overall and by sex and age. DESIGN, SETTING, AND PARTICIPANTS:We identified 1658 patients with an MMD discharge diagnosis in the Swedish Hospital Discharge Register or Danish National Patient Registry between 1977 and 2008. We linked these patients to their corresponding cancer registry. Patients were followed up from date of first MMD-related inpatient or outpatient contact to first cancer diagnosis, death, emigration, or completion of cancer registration. MAIN OUTCOME MEASURES:Risks of all cancers combined and by anatomic site, stratified by sex and age. RESULTS:One hundred four patients with an inpatient or outpatient discharge diagnosis of MMD developed cancer during postdischarge follow-up. This corresponds to an observed cancer rate of 73.4 per 10,000 person-years in MMD vs an expected rate of 36.9 per 10,000 person-years in the general Swedish and Danish populations combined (standardized incidence ratio [SIR], 2.0; 95% CI, 1.6-2.4). Specifically, we observed significant excess risks of cancers of the endometrium (n = 11; observed rate, 16.1/10,000 person-years; SIR, 7.6; 95% CI, 4.0-13.2), brain (n = 7; observed rate, 4.9/10,000 person-years; SIR, 5.3; 95% CI, 2.3-10.4), ovary (n = 7; observed rate, 10.3/10,000 person-years; SIR, 5.2; 95% CI, 2.3-10.2), and colon (n = 10; observed rate, 7.1/10,000 person-years; SIR, 2.9; 95% CI, 1.5-5.1). Cancer risks were similar in women and men after excluding genital organ tumors (SIR, 1.9; 95% CI, 1.4-2.5, vs SIR, 1.8; 95% CI, 1.3-2.5, respectively; P = .81 for heterogeneity; observed rates, 64.5 and 47.7 per 10,000 person-years in women and men, respectively). The same pattern of cancer excess was observed first in the Swedish and then in the Danish cohorts, which were studied sequentially and initially analyzed independently. CONCLUSION:Patients with MMD identified from the Swedish and Danish patient registries were at increased risk of cancer both overall and for selected anatomic sites.

Dataset Information

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

Publications

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

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