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Imaging of the thymus in myotonic dystrophy type 1

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Abstract

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.

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Abbreviations

CT:

computed tomography

DM1:

myotonic dystrophy type 1

DMPK:

dystrophia myotonica protein kinase

EMG:

electromyography

MBLN1:

muscleblind-like 1

MIRS:

muscular impairment rating scale

MR:

magnetic resonance

MRC:

Medical Research Council

PET:

positron emission tomography

RNS:

repetitive nerve stimulation

References

  1. Udd B, Krahe R (2012) The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol 11(10):891–905. https://doi.org/10.1016/S1474-4422(12)70204-1

    Article  CAS  PubMed  Google Scholar 

  2. Mueller CM, Hilbert JE, Martens W, Thornton CA, Moxley RT, Greene MH (2009) Hypothesis: neoplasms in myotonic dystrophy. Cancer Causes Control 20(10):2009–2020. https://doi.org/10.1007/s10552-009-9395-y

    Article  PubMed  PubMed Central  Google Scholar 

  3. Gadalla SM, Lund M, Pfeiffer RM, Gørtz S, Mueller CM, Moxley RT 3rd, Kristinsson SY, Björkholm M, Shebl FM, Hilbert JE, Landgren O, Wohlfahrt J, Melbye M, Greene MH (2011) Cancer risk among patients with myotonic muscular dystrophy. JAMA 306(22):2480–2486. https://doi.org/10.1001/jama.2011.1796

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Win AK, Perattur PG, Pulido JS, Pulido CM, Lindor NM (2012) Increased cancer risks in myotonic dystrophy. Mayo Clin Proc 87(2):130–135. https://doi.org/10.1016/j.mayocp.2011.09.005

    Article  PubMed  PubMed Central  Google Scholar 

  5. Das M, Moxley RT, Hilbert JE et al (2012) Correlates of tumor development in patients with myotonic dystrophy. J Neurol 259(10):2161–2166. https://doi.org/10.1007/s00415-012-6476-8

    Article  PubMed  PubMed Central  Google Scholar 

  6. Mohamed S, Pruna L, Kaminsky P (2013) Increasing risk of tumors in myotonic dystrophy type 1. Presse Med 42(9):e281–e284. https://doi.org/10.1016/j.lpm.2013.01.052

    Article  PubMed  Google Scholar 

  7. Bianchi ML, Leoncini E, Masciullo M et al (2016) Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors. J Neurol 263(3):492–498. https://doi.org/10.1007/s00415-015-8006-y

    Article  CAS  PubMed  Google Scholar 

  8. Gadalla SM, Pfeiffer RM, Kristinsson SY, Björkholm M, Landgren O, Greene MH (2016) Brain tumors in patients with myotonic dystrophy: a population-based study. Eur J Neurol 23(3):542–547. https://doi.org/10.1111/ene.12886

    Article  CAS  PubMed  Google Scholar 

  9. Fernández-Torrón R, García-Puga M, Emparanza JI, Maneiro M, Cobo AM, Poza JJ, Espinal JB, Zulaica M, Ruiz I, Martorell L, Otaegui D, Matheu A, López de Munain A (2016) Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation. Neurology 87(12):1250–1257. https://doi.org/10.1212/WNL.0000000000003124

    Article  PubMed  Google Scholar 

  10. Goto I, Ichimaru K, Maruyama T, Yamaguchi T (1969) An autopsy case of myotonic dystrophy with familial diabetes mellitus, a mixed tumor of the parotid gland and a thymoma. Fukuoka Acta Med 60:126–133

    Google Scholar 

  11. Kuroiwa Y, Yamada A, Ikebe K, Kosaka K, Sugita H, Murakami T (1981) Myotonic dystrophy and thymoma: a necropsy case report. J Neurol Neurosurg Psychiatry 44(2):173–175. https://doi.org/10.1136/jnnp.44.2.173

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Canovas A, Rodrıguez Illera E, Arizcun A, Riva C, Diego J (1981) Myotonic dystrophy and thymoma associated with myasthenic behavior on electromyography. Rev Clin Esp 160(6):405–407

    CAS  PubMed  Google Scholar 

  13. Carlin L, Biller J (1981) Myotonic dystrophy and thymoma. J Neurol Neurosurg Psychiatry 44(9):852–853. https://doi.org/10.1136/jnnp.44.9.852-a

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Hirai T, Yamanaka A, Fujimoto T, Takahashi A, Takayama Y, Yamanaka K (2001) Multiple thymoma with myotonic dystrophy. Jpn J Thorac Cardiovasc Surg 49(7):457–460. https://doi.org/10.1007/BF02913913

    Article  CAS  PubMed  Google Scholar 

  15. Kudva GC, Maliekel K, Kim HJ, Naunheim KS, Stolar C, Fletcher JW, Puri S (2002) Thymoma and myotonic dystrophy: successful treatment with chemotherapy and radiation: case report and review of the literature. Chest 121(6):2061–2063. https://doi.org/10.1378/chest.121.6.2061

    Article  PubMed  Google Scholar 

  16. Feyma T, Carter GT, Weiss MD (2008) Myotonic dystrophy type 1 coexisting with myasthenia gravis and thymoma. Muscle Nerve 38(1):916–920. https://doi.org/10.1002/mus.21046

    Article  PubMed  Google Scholar 

  17. Ekmekci O, Karasoy H, Bademkiran F, Akkus DE, Yuceyar N (2014) Myasthenia gravis and thymoma coexisting with myotonic dystrophy type 1. Neuromuscul Dis 24(1):40–42. https://doi.org/10.1016/j.nmd.2013.09.001

    Article  Google Scholar 

  18. Gómez Hernández MT, Martín Posadas MT, García Sánchez Mdel C (2016) Undiagnosed myotonic dystrophy type 1 in a patient with synchronous thymoma and thyroid cancer. Arch Bronconeumol 52(7):393–394. https://doi.org/10.1016/j.arbres.2015.09.012

    Article  PubMed  Google Scholar 

  19. Mathieu J, Boivin H, Meunier D, Gaudreault M, Begin P (2001) Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy. Neurology 56(3):336–340. https://doi.org/10.1212/WNL.56.3.336

    Article  CAS  PubMed  Google Scholar 

  20. Compston A (2010) Aids to the investigation of peripheral nerve injuries. Medical Research Council: Nerve Injuries Research Committee. His Majesty's Stationery Office: 1942; pp. 48 (iii) and 74 figures and 7 diagrams; with aids to the examination of the peripheral nervous system. By Michael O’Brien for the Guarantors of Brain. Saunders Elsevier: 2010; pp. [8] 64 and 94 Figures. Brain 133:2838–2844

  21. Francis IR, Glazer GM, Bookstein FL, Gross BH (1985) The thymus: reexamination of age-related changes in size and shape. AJR Am J Roentgenol 145(2):249–254. https://doi.org/10.2214/ajr.145.2.249

    Article  CAS  PubMed  Google Scholar 

  22. Marx A, Chan JK, Coindre JM et al (2015) The 2015 World Health Organization classification of tumors of the thymus: continuity and changes. J Thorac Oncol 10(10):1383–1395. https://doi.org/10.1097/JTO.0000000000000654

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  23. Detterbeck FC, Nicholson AG, Kondo K, Van Schil P, Moran C (2011) The Masaoka-Koga stage classification for thymic malignancies: clarification and definition of terms. J Thorac Oncol 6(7):S1710–S1716. https://doi.org/10.1097/JTO.0b013e31821e8cff

    Article  PubMed  Google Scholar 

  24. Nasseri F, Eftekhari F (2010) Clinical and radiologic review of the normal and abnormal thymus: pearls and pitfalls. Radiographics 30(2):413–428. https://doi.org/10.1148/rg.302095131

    Article  PubMed  Google Scholar 

  25. Kinoshita M, Igarashi A, Komori T, Tamura H, Hayashi M, Kinoshita K, Deguchi T, Hirose K (1997) Differences in CTG triplet repeat expansions in an ovarian cancer and cyst from a patient with myotonic dystrophy. Muscle Nerve 20(5):622–624. https://doi.org/10.1002/(SICI)1097-4598(199705)20:5<622::AID-MUS16>3.0.CO;2-Y

    Article  CAS  PubMed  Google Scholar 

  26. Osanai R, Kinoshita M, Hirose K, Homma T, Kawabata I (2000) CTG triplet repeat expansion in a laryngeal carcinoma from a patient with myotonic dystrophy. Muscle Nerve 23(5):804–806. https://doi.org/10.1002/(SICI)1097-4598(200005)23:5<804::AID-MUS19>3.0.CO;2-E

    Article  CAS  PubMed  Google Scholar 

  27. Kinoshita M, Osanai R, Kikkawa M et al (2002) A patient with myotonic dystrophy type 1 (DM 1) accompanied by laryngeal and renal cell carcinomas had a small CTG triplet repeat expansion but no somatic instability in normal tissues. Intern Med 41(4):312–318. https://doi.org/10.2169/internalmedicine.41.312

    Article  PubMed  Google Scholar 

  28. Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, Swanson MS (2000) Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J 19(17):4439–4448. https://doi.org/10.1093/emboj/19.17.4439

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. Fish L, Pencheva N, Goodarzi H, Tran H, Yoshida M, Tavazoie SF (2016) Muscleblind-like 1 suppresses breast cancer metastatic colonization and stabilizes metastasis suppressor transcripts. Genes Dev 30(4):386–398. https://doi.org/10.1101/gad.270645.115

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Authors and Affiliations

  1. Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy

    Andrea Mignarri, Alessandro Malandrini, Antonio Federico & Maria Teresa Dotti

  2. Diagnostic Imaging, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy

    Francesco Gentili & Maria Antonietta Mazzei

  3. Oncohematology Division, Department of Medicine and Medical Specialties, University of Perugia, Perugia, Italy

    Francesco Masia & Angelo Genua

  4. Unit of Neurology, Ospedale di Città di Castello, Città di Castello, Italy

    Silvia Cenciarelli

  5. Department of Neurophysiopathology, Silvestrini Hospital, Perugia, Italy

    Paola Brunori

  6. Diagnostic Imaging, Azienda Ospedaliera Universitaria Senese, Siena, Italy

    Francesco Giuseppe Mazzei

Authors
  1. Andrea Mignarri
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  2. Francesco Gentili
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Correspondence to Andrea Mignarri.

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All procedures were undertaken in accordance with the ethical standards and the 1964 Helsinki declaration. Patients were fully informed and informed consent was obtained from all individual participants. The study was approved by the Local Ethic Committee.

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Mignarri, A., Gentili, F., Masia, F. et al. Imaging of the thymus in myotonic dystrophy type 1. Neurol Sci 39, 347–351 (2018). https://doi.org/10.1007/s10072-017-3202-4

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  • DOI: https://doi.org/10.1007/s10072-017-3202-4

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