• Presse Med · Sep 2013

    [Increasing risk of tumors in myotonic dystrophy type 1].

    • Shirine Mohamed, Lelia Pruna, and Pierre Kaminsky.
    • Hôpitaux de Brabois, centre de référence des maladies neuromusculaires, centre hospitalier universitaire de Nancy, service de médecine interne orientée vers les maladies orphelines et systémiques, pôle des spécialités médicale, bâtiment Philippe-Canton, rue du Morvan, 54500 Vandoeuvre, France.
    • Presse Med. 2013 Sep 1; 42 (9 Pt 1): e281-4.

    ObjectiveMyotonic dystrophy type 1 (DM1) is characterized by an unstable expansion of a CTG repeat resulting in altered mRNA biogenesis. Benign or malignant tumours are increasingly reported. The aim of the study was to evaluate the risk of tumor in a cohort of patients DM1.MethodWe retrospectively reviewed the medical records of every DM1 patient admitted in our neuromuscular center. Diagnoses of cancer and age at diagnosis were noted. The relative risk of a selected cancer was calculated using the data of the cancer registry obtained from the French "Institut de Veille Sanitaire".ResultsA total of 109 French DM1 patients, aged 44.1±13.0 years, were studied, and 14 malignant tumours were observed, with a significant relative risk (RR) of thymoma, of gynaecologic cancers, of lung cancers.ConclusionWhile this cohort is small, our findings nevertheless suggest an increased risk of particular cancers in DM1. The toxic effects of mutant RNA may possibly affect oncogene expression or growth factor signalling pathways in cells. Clinical practice should include cancer screening and prevention of risk factors in DM1 patients.Copyright © 2013 Elsevier Masson SAS. All rights reserved.

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