Imaging of the thymus in myotonic dystrophy type 1

• Published in: Neurological sciences Vol. 39; no. 2; pp. 347 - 351
• Main Authors: Mignarri, Andrea, Gentili, Francesco, Masia, Francesco, Genua, Angelo, Cenciarelli, Silvia, Brunori, Paola, Mazzei, Maria Antonietta, Malandrini, Alessandro, Federico, Antonio, Mazzei, Francesco Giuseppe, Dotti, Maria Teresa
• Format: Journal Article
• Language: English
• Published: Milan Springer Milan 01.02.2018; Springer Nature B.V
• Subjects: Adult; Aged; Antibodies; Dystrophy; Electromyography; Female; Fluorodeoxyglucose F18; Humans; Hyperplasia; Male; Medicine; Medicine & Public Health; Middle Aged; Myasthenia gravis; Myotonic dystrophy; Myotonic Dystrophy - diagnostic imaging; Myotonic Dystrophy - genetics; Myotonic Dystrophy - pathology; Myotonin-Protein Kinase - genetics; Neurology; Neuroradiology; Neurosciences; Neurosurgery; Original Article; Patients; Positron-Emission Tomography; Psychiatry; Ribonucleic acid; RNA; Splicing factors; Surgery; Thymocytes; Thymoma; Thymus; Thymus gland; Thymus Gland - diagnostic imaging; Thyroid gland; Tomography Scanners, X-Ray Computed; Trinucleotide repeat diseases; Trinucleotide Repeat Expansion; Tumors; Young Adult; Myotonic dystrophy type 1; Thymoma; Thymic hyperplasia; Thoracic imaging; Thymus; DMPK
• ISSN: 1590-1874; 1590-3478
• DOI: 10.1007/s10072-017-3202-4

The occurrence of thymoma in myotonic dystrophy type 1 (DM1) has been occasionally reported, and an increased risk of tumors has been observed. We performed imaging of the thymus in 22 patients carrying DMPK expansion. Clinical examination and routine instrumental exams were performed at the same time. We observed no thymic abnormalities in 13 subjects, thymic hyperplasia in eight patients, and an invasive thymoma in one case. Subjects with thymic abnormalities did not show peculiarities as regards clinical and electrophysiological features. We observed thymoma in one patient with an expansion in the higher range. Abnormalities of the thymus including hyperplasia and thymoma can be present in DM1, but do not seem to play a major role in DM1 pathogenesis. Further studies are needed to understand if some RNA splicing factors involved in DM1 and influenced by CTG expansion size could have a role in thymocytes proliferation.