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01-02-2018 | Original Article

Imaging of the thymus in myotonic dystrophy type 1

Authors: Andrea Mignarri, Francesco Gentili, Francesco Masia, Angelo Genua, Silvia Cenciarelli, Paola Brunori, Maria Antonietta Mazzei, Alessandro Malandrini, Antonio Federico, Francesco Giuseppe Mazzei, Maria Teresa Dotti

Published in: Neurological Sciences | Issue 2/2018

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.

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 CrossRefPubMed

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 CrossRefPubMedPubMedCentral

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 CrossRefPubMedPubMedCentral

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 CrossRefPubMedPubMedCentral

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 CrossRefPubMedPubMedCentral

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 CrossRefPubMed

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 CrossRefPubMed

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 CrossRefPubMed

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 CrossRefPubMed

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

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 CrossRefPubMedPubMedCentral

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):405–407PubMed

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 CrossRefPubMedPubMedCentral

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 CrossRefPubMed

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 CrossRefPubMed

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 CrossRefPubMed

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 CrossRef

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 CrossRefPubMed

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 CrossRefPubMed

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 CrossRefPubMed

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 CrossRefPubMedPubMedCentral

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 CrossRefPubMed

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 CrossRefPubMed

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 CrossRefPubMed

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 CrossRefPubMed

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 CrossRefPubMed

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 CrossRefPubMedPubMedCentral

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 CrossRefPubMedPubMedCentral

Title: Imaging of the thymus in myotonic dystrophy type 1
Authors: Andrea Mignarri
Francesco Gentili
Francesco Masia
Angelo Genua
Silvia Cenciarelli
Paola Brunori
Maria Antonietta Mazzei
Alessandro Malandrini
Antonio Federico
Francesco Giuseppe Mazzei
Maria Teresa Dotti
Publication date: 01-02-2018
Publisher: Springer Milan
Published in: Neurological Sciences / Issue 2/2018
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-017-3202-4

At a glance: The STEP trials

Springer Medicine

Imaging of the thymus in myotonic dystrophy type 1

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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