Original paper

Cancer Causes & Control

, Volume 20, Issue 10, pp 2009-2020

First online:

Hypothesis: neoplasms in myotonic dystrophy

  • Christine M. MuellerAffiliated withClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health/DHHS Email author 
  • , James E. HilbertAffiliated withNeuromuscular Disease Center, University of Rochester Medical Center
  • , William MartensAffiliated withNeuromuscular Disease Center, University of Rochester Medical Center
  • , Charles A. ThorntonAffiliated withNeuromuscular Disease Center, University of Rochester Medical Center
  • , Richard T. MoxleyIIIAffiliated withNeuromuscular Disease Center, University of Rochester Medical Center
  • , Mark H. GreeneAffiliated withClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health/DHHS

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access

Abstract

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.

Keywords

Tumorigenesis Myotonic dystrophy Repeat expansion disorders Pilomatricoma β-Catenin