title: Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors.
abstract: Recent studies documented an increased risk of neoplasm in patients with myotonic dystrophies (DM). Yet, none of these studies evaluated the contribution of common cancer risk factors in such observation. In this study, we included a cohort of patients (n = 255) with an established molecular diagnosis of DM type 1 (DM1), and who receives their treatment in one of the four centers with recognized expertise in neuromuscular disorders in Rome. We estimated the prevalence of benign and malignant tumors, and assessed if lifestyle factors and/or specific disease features would be associated to their occurrence. Overall, 59 benign tumors in 54 patients and 19 malignant tumors in 17 patients were diagnosed. The most common malignant neoplasms were cancers of the skin (31.6%), thyroid (21.0%), ovary (10.5%), and breast (10.5%). Uterine fibroid was the most common benign tumor (37.6%) in women, while pilomatricoma was the most common in men (28.6%). Age at enrollment (OR = 1.02, 95% CI 1.00-1.05), and female gender (OR = 5.71, 95% CI 2.90-11.22) were associated with tumor development in DM1 patients, while thyroid disorders was associated with malignant tumors only in women (OR = 5.12, 95% CI 1.35-19.37). There was no association between tumor development and evaluated lifestyle factors. In conclusion, the lack of association between common cancer risk factors and tumor development in DM1 support a pathogenic link between tumors and DM1 itself, emphasizing the need for a systematic surveillance. Our observation of an association between thyroid diseases in women and cancer development needs confirmation.
authors.affiliation: Department of Geriatrics, Neuroscience and Orthopedics, Università Cattolica del Sacro Cuore, Largo F. Vito 1, 00168, Rome, Italy.
authors.forename: Maria Laura Ester
authors.initials: ML
authors.lastname: Bianchi
authors.affiliation: Institute of Public Health, Section of Hygiene, UCSC, Rome, Italy.
authors.forename: Emanuele
authors.initials: E
authors.lastname: Leoncini
authors.affiliation: IRCSS Fondazione Santa Lucia, Rome, Italy.
authors.forename: Marcella
authors.initials: M
authors.lastname: Masciullo
authors.affiliation: Department of Geriatrics, Neuroscience and Orthopedics, Università Cattolica del Sacro Cuore, Largo F. Vito 1, 00168, Rome, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Modoni
authors.affiliation: Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
authors.forename: Shahinaz M
authors.initials: SM
authors.lastname: Gadalla
authors.affiliation: Department of Systems Medicine (Neurology), University of Rome Tor Vergata, Rome, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Massa
authors.affiliation: Department of Systems Medicine (Neurology), University of Rome Tor Vergata, Rome, Italy.
authors.forename: Emanuele
authors.initials: E
authors.lastname: Rastelli
authors.affiliation: Department of Systems Medicine (Neurology), University of Rome Tor Vergata, Rome, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Terracciano
authors.affiliation: Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Rome, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Antonini
authors.affiliation: Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Rome, Italy.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Bucci
authors.affiliation: Unità Operativa Complessa Neurologia e Neurofisiopatologia, Azienda Ospedaliera San Camillo Forlanini, Rome, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Petrucci
authors.affiliation: Unit of Medical Genetics, Center for Neuromuscular and Neurological Rare Diseases, S. Camillo Forlanini Hospital, Rome, Italy.
authors.forename: Sandro
authors.initials: S
authors.lastname: Costanzi
authors.affiliation: Fondazione Don Carlo Gnocchi Onlus, Milan, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Santoro
authors.affiliation: Institute of Public Health, Section of Hygiene, UCSC, Rome, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Boccia
authors.affiliation: Department of Geriatrics, Neuroscience and Orthopedics, Università Cattolica del Sacro Cuore, Largo F. Vito 1, 00168, Rome, Italy. gsilvestri@rm.unicatt.it.
authors.forename: Gabriella
authors.initials: G
authors.lastname: Silvestri
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D015331:Cohort Studies; D005260:Female; D006801:Humans; D008019:Life Style; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000453:epidemiology* / Q000523:psychology*; D009369:Neoplasms / Q000145:classification / Q000453:epidemiology* / Q000523:psychology*; D012307:Risk Factors; D018709:Statistics, Nonparametric; D055815:Young Adult
keywords: Cancer; Myotonic dystrophy type 1; Risk factors; Thyroid disease; Tumor