Cancer Causes & Control

, Volume 20, Issue 10, pp 2009–2020 | Cite as

Hypothesis: neoplasms in myotonic dystrophy

  • Christine M. Mueller
  • James E. Hilbert
  • William Martens
  • Charles A. Thornton
  • Richard T. MoxleyIII
  • Mark H. Greene
Original paper


Tumorigenesis is a multi-step process due to an accumulation of genetic mutations in multiple genes in diverse pathways which ultimately lead to loss of control over cell growth. It is well known that inheritance of rare germline mutations in genes involved in tumorigenesis pathways confer high lifetime risk of neoplasia in affected individuals. Furthermore, a substantial number of multiple malformation syndromes include cancer susceptibility in their phenotype. Studies of the mechanisms underlying these inherited syndromes have added to the understanding of both normal development and the pathophysiology of carcinogenesis. Myotonic dystrophy (DM) represents a group of autosomal dominant, multisystemic diseases that share the clinical features of myotonia, muscle weakness, and early-onset cataracts. Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) result from unstable nucleotide repeat expansions in their respective genes. There have been multiple reports of tumors in individuals with DM, most commonly benign calcifying cutaneous tumors known as pilomatricomas. We provide a summary of the tumors reported in DM and a hypothesis for a possible mechanism of tumorigenesis. We hope to stimulate further study into the potential role of DM genes in tumorigenesis, and help define DM pathogenesis, and facilitate developing novel treatment modalities.


Tumorigenesis Myotonic dystrophy Repeat expansion disorders Pilomatricoma β-Catenin 



These observations are offered in memory of Dr. Robert W. Miller, Scientist Emeritus at the National Cancer Institute, who was a pioneer in leveraging alert clinical observations into paradigm-altering etiologic insights. He remains a role model and an inspiration to all those fortunate enough to have known him. Funding: This work was supported through funding provided by (1) Intramural Research Program of the National Cancer Institute (2) The National Registry of DM and FSHD Patients and Family Members is supported through the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the National Institute of Neurological Disorders and Stroke, #NO1-AR-5-2274 (3) University of Rochester Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center (NIH/NS48843).


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© US Government 2009

Authors and Affiliations

  • Christine M. Mueller
    • 1
  • James E. Hilbert
    • 2
  • William Martens
    • 2
  • Charles A. Thornton
    • 2
  • Richard T. MoxleyIII
    • 2
  • Mark H. Greene
    • 1
  1. 1.Clinical Genetics Branch, Division of Cancer Epidemiology and GeneticsNational Cancer Institute, National Institutes of Health/DHHSRockvilleUSA
  2. 2.Neuromuscular Disease CenterUniversity of Rochester Medical CenterRochesterUSA

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