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

PloS One
Albert RübbenC. Cacchi

Abstract

Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disease which results from an expansion of repetitive DNA elements within the 3' untranslated region of the DMPK gene. Some patients develop multiple pilomatricomas as well as malignant tumors in other tissues. Mutations of the catenin-β gene (CTNNB1) could be demonstrated in most non-syndromic pilomatricomas. In order to gain insight into the molecular mechanisms which might be responsible for the occurrence of multiple pilomatricomas and cancers in patients with DM1, we have sequenced the CTNNB1 gene of four pilomatricomas and of one pilomatrical carcinoma which developed in one patient with molecularly proven DM1 within 4 years. We further analyzed the pilomatrical tumors for microsatellite instability as well as by NGS for mutations in 161 cancer-associated genes. Somatic and independent point-mutations were detected at typical hotspot regions of CTNNB1 (S33C, S33F, G34V, T41I) while one mutation within CTNNB1 represented a duplication mutation (G34dup.). Pilomatricoma samples were analyzed for microsatellite instability and expression of mismatch repair proteins but no mutated microsatellites could be detected and expression of mismatch repair proteins MLH1, MSH...Continue Reading

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Citations

Sep 29, 2020·Pediatric Dermatology·Lindsay McCormackKaren Wiss
May 24, 2021·Surgical Pathology Clinics·Grace Hile, Paul W Harms

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Datasets Mentioned

BETA
SUB6884814

Methods Mentioned

BETA
Assay
biopsy
PCR
co-electrophoresis

Software Mentioned

SeqPilot
SeqPatient
Genemapper
Oncomine Comprehensive Assay
JSI SeqPilot
JSI

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