Mutation analysis of multiple pilomatricomas in a patient with myotonic dystrophy type 1 suggests a DM1-associated hypermutation phenotype

Molecular analysis of four pilomatricomas and one pilomatrical carcinoma in a patient with myotonic dystrophy type 1 demonstrate that the patient displayed hypermutability within his hair matrix cells targeting the catenin-beta gene which suggests a tissue and gene restricted hypermutation phenotype associated with DM1. Hereby we could disregard the hypothesis first proposed in 2009 that the untranslated repetitive RNA of the expanded DMPK gene directly enhances expression of b-catenin resulting in pilomatricomas as well as in various cancers which rely on activation of the WNT/APC/beta-catenin pathway. More molecular research on DM1 cancer predisposition will have to be performed in order to identify the mechanisms responsible for putative hypermutability in DM1 patients. NGS-panel sequencing data of the pilomatrical carcinoma are provided.