Increasing risk of tumors in myotonic dystrophy type 1

Presse Medicale

Volumn 42, Issue 9 PART1, 2013, Pages

  Mohamed, Shirine ^a   Pruna, Lelia ^a   Kaminsky, Pierre ^a  

^a CHU NANCY BRABOIS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CANCER REGISTRY; CANCER RISK; COHORT ANALYSIS; GYNECOLOGIC CANCER; HUMAN; LUNG CANCER; MAJOR CLINICAL STUDY; MALIGNANT NEOPLASTIC DISEASE; MEDICAL RECORD REVIEW; MYOTONIC DYSTROPHY; RETROSPECTIVE STUDY; RISK ASSESSMENT; RISK FACTOR; THYMOMA; FEMALE; MALE; NEOPLASM;

ADULT; FEMALE; HUMANS; MALE; MYOTONIC DYSTROPHY; NEOPLASMS; RETROSPECTIVE STUDIES; RISK ASSESSMENT;

EID: 84884297789     PISSN: 07554982     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.lpm.2013.01.052     Document Type: Article

References (19)

1. Fu Y.H., Pizzuti A., Fenwick R.G., King J., Rajnarayan S., Dunne P.W., et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992, 255:1256-1258.
2. Mahadevan M., Tsilfidis C., Sabourin L., Shutler G., Amemiya C., Jansen G., et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science 1992, 255:1253-1255.
3. Osborne R.J., Lin X., Welle S., Sobczak K., O'Rourke J.R., Swanson M.S., et al. Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy. Hum Mol Genet 2009, 18:1471-1481.
4. Harper P.S., Monckton D.G. Myotonic dystrophy. Myology Basic and Clinical 2005, 1039-1076. Mac Graw-Hill, New York. 3rd ed. A.G. Engel, C. Franzini-Amstrong (Eds.).
5. Kaminsky P., Poussel M., Pruna L., Deibener J., Chenuel B., Brembilla-Perrot B. Organ dysfunction and muscular disability in myotonic dystrophy type 1. Medicine (Baltimore) 2011, 90:262-268.
6. Win A.K., Perattur P.G., Pulido J.S., Pulido C.M., Lindor N.M. Increased cancer risks in myotonic dystrophy. Mayo Clin Proc 2012, 87:130-135.
7. Gadalla S.M., Lund M., Pfeiffer R.M., Gortz S., Mueller C.M., Moxley R.T., et al. Cancer risk among patients with myotonic muscular dystrophy. JAMA 2011, 306:2480-2486.
8. Mueller C.M., Hilbert J.E., Martens W., Thornton C.A., Moxley R.T. Hypothesis: neoplasms in myotonic dystrophy. Cancer Causes Control 2009, 20:2009-2020.
9. Hadoux J., Girard N., Besse B. Tumeurs épithéliales thymiques: actualités dans la prise en charge en France. Bull Cancer 2012, 99:1045-1055.
10. Mathieu J., Allard P., Potvin L., Prevost C., Begin P. A 10-year study of mortality in a cohort of patients with myotonic dystrophy. Neurology 1999, 52:1658-1662.
11. Machuca-Tzili L., Brook D., Hilton-Jones D. Clinical and molecular aspects of the myotonic dystrophies: a review. Musc Nerve 2005, 32:1-18.
12. Lukong K.E., KW C., Khandjian E.W., Richard S. RNA-binding proteins in human genetic disease. Trends Genet 2008, 24:416-425.
13. Jinnai K., Sugio T., Mitani M., Hashimoto K., Takahashi K. Elongation of (CTG)n repeats in myotonic dystrophy protein kinase gene in tumors associated with myotonic dystrophy patients. Musc Nerve 1999, 22:1271-1274.
14. Lazar A.J., Calonje E., Grayson W., Dei Tos A.P., Mihm M.C.J., Redston M., et al. Pilomatrix carcinomas contain mutations in CTNNB1, the gene encoding beta-catenin. J Cutan Pathol 2005, 32:148-157.
15. Reifenberger J., Knobbe C.B., Wolter M., Blaschke B., Schulte K.W., Pietsch T., et al. Molecular genetic analysis of malignant melanomas for aberrations of the WNT signaling pathway genes CTNNB1, APC, ICAT and BTRC. Int J Cancer 2002, 100:549-556.
16. Polakis P. Wnt signaling and cancer. Genes Dev 2000, 14:1837-1851.
17. Lahiry P., Torkamani A., Schork N.J., Hegele R.A. Kinase mutations in human disease: interpreting genotype-phenotype relationships. Nat Rev Genet 2010, 11:60-74.
18. Osanai R., Kinoshita M., Hirose K., Homma T., Kawabata I. CTG triplet repeat expansion in a laryngeal carcinoma from a patient with myotonic dystrophy. Musc Nerve 2000, 23:804-806.
19. Akiyama M., Yuza Y., Yokokawa Y., Yokoi K., Ariga M., Eto Y. Differences in CTG triplet repeat expansion in leukemic cells and normal lymphocytes from a 14-year-old female with congenital myotonic dystrophy. Pediatr Blood Cancer 2008, 51:563-565.