Neuromuscular disorders : NMD · 2020
Myotonic dystrophy and recurrent pleomorphic adenomas: Case report and association hypothesis.
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Pruijn Ineke M J, van Herpen Carla M L, Pegge Sjoert A H, van Engen van Grunsven Adriana C H, Ligtenberg Marjolijn J, van den Hoogen Frank J A
Аннотация
We report a case of a patient with concurrent myotonic dystrophy and recurrent pleomorphic adenoma and hypothesize the association between both diseases. A 58-year-old man with classic myotonic dystrophy type 1 was diagnosed with pleomorphic adenoma. Appropriate treatment was commenced. Massive recurrences occurred within 15, 28 and 22 months respectively, after repeated surgical removal. Three case reports on similar occurrences of synchronous myotonic dystrophy and pleomorphic adenoma are discussed and an association between both disease entities is hypothesized. A conceivable association between myotonic dystrophy and pleomorphic adenoma is hypothesized by upregulation of the Wnt/Beta-catenin signaling pathway, initiated by a decreased expression of microRNA, pleomorphic adenoma gene 1 induced Beta-catenin accumulations and alterations in tumor suppressor genes and oncogenes due to RNA processing defects induced by the expanded repeat in the DMPK gene.