Correlates of tumor development in patients with myotonic dystrophy

Journal of Neurology

Volumn 259, Issue 10, 2012, Pages 2161-2166

  Das, Maya ^a   Moxley III, Richard T ^b   Hilbert, James E ^b   Martens, William B ^b   Letren, Lisa ^a   Greene, Mark H ^c   Gadalla, Shahinaz M ^c  

^a UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

Author keywords

Comorbidity; Myotonic dystrophy; Neoplasms; Repeat expansion size; Risk factors

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; BENIGN TUMOR; CANCER RISK; CARCINOGENESIS; CHILD; CLINICAL FEATURE; CONFIDENCE INTERVAL; DEMOGRAPHY; FEMALE; FETUS; HUMAN; INFANT; LIFESTYLE; MAJOR CLINICAL STUDY; MALE; MALIGNANT NEOPLASTIC DISEASE; MYOTONIC DYSTROPHY; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; AGE FACTORS; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; CROSS-SECTIONAL STUDIES; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MYOTONIC DYSTROPHY; NEOPLASMS; RISK FACTORS; SEX FACTORS; YOUNG ADULT;

EID: 84867334719     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-012-6476-8     Document Type: Article

References (29)

1. Harper PS (2001) Myotonic dystrophy. WB Saunders, Philadelphia
2. Ranum LP, Day JW (2002) Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type. Curr Neurol Neurosci Rep 2:465-470
3. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 30 end of a transcript encoding a protein kinase family member. Cell 69:385
4. Fu YH, Pizzuti A, Fenwick RG Jr, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, de Jong D (1992) An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255:1256-1258
5. Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barcelo J, O'Hoy K (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 30 untranslated region of the gene. Science 255:1253-1255
6. Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP (2001) Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293:864-867
7. Mueller CM, Hilbert JE, Martens W, Thornton CA, Moxley RT, III, Greene MH (2009) Hypothesis: neoplasms in myotonic dystrophy. Cancer Causes Control 20(10):2009-2020
8. Gadalla SM, Lund M, Pfeiffer RM, Gortz S, Mueller CM, Moxley RT III, Kristinsson SY, Bjorkholm M, Shebl FM, Hilbert JE, Landgren O, Wohlfahrt J, Melbye M, Greene MH (2011) Cancer risk among patients with myotonic muscular dystrophy. JAMA 306:2480-2486
9. Win AK, Perattur PG, Pulido JS, Pulido CM, Lindor NM (2012) Increased cancer risks in myotonic dystrophy. Mayo Clin Proc 87(2):130-135
10. Hilbert JE, Kissel JT, Luebbe EA, Martens WB, McDermott MP, Sanders DB, Tawil R, Thornton CA, Moxley RT III (2012) If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD). Contemp Clin Trials 33:302-311
11. Futreal PA, Coin L, Marshall M, Down T, Hubbard T, Wooster R, Rahman N, Stratton MR (2004) A census of human cancer genes. Nat Rev Cancer 4:177-183
12. Lahiry P, Torkamani A, Schork NJ, Hegele RA (2010) Kinase mutations in human disease: interpreting genotype-henotype relationships. Nat Rev Genet 11:60-74
13. Miller RW, Rubinstein JH (1995) Tumors in Rubinstein-Taybi syndrome. Am J Med Genet 56:112-115
14. Pujol RM, Casanova JM, Egido R, Pujol J, de Moragas JM (1995) Multiple familial pilomatricomas: a cutaneous marker for Gardner syndrome? Pediatr Dermatol 12:331-335
15. Azurdia RM, Verbov JL (1999) Myotonic dystrophy and basal cell carcinoma-a true association? Br J Dermatol 141:941-942
16. Goolamali SI, Edmonds EV, Francis N, Bunker CB (2009) Myotonic dystrophy and basal cell carcinomas: coincidence or true association? Clin Exp Dermatol 34:e370
17. ItinPH,LaengRH(2001)Multiple pigmented basalioma of the scalp in a patient with Curschmann-Steinert myotonia dystrophica. Confirmation of a rare symptom constellation. Hautarzt 52:244-246
18. Zemtsov A (2010) Association between basal, squamous cell carcinomas, dysplastic nevi and myotonic muscular dystrophy indicates an important role of RNA-binding proteins in development of human skin cancer. Arch Dermatol Res 302:169-170
19. Panzer S, Kuhl DP, Caskey CT (1995) Unstable triplet repeat sequences: a source of cancer mutations? Stem Cells 13:146-157
20. Groh WJ, Groh MR, Shen C, Monckton DG, Bodkin CL, Pascuzzi RM (2011) Survival and CTG repeat expansion in adults with myotonic dystrophy type 1. Muscle Nerve 43:648-651
21. Schoser BG, Kress W, Walter MC, Halliger-Keller B, Lochmuller H, Ricker K (2004) Homozygosity for CCTG mutation in myotonic dystrophy type 2. Brain 127:1868-1877
22. Akiyama M, Yuza Y, Yokokawa Y, Yokoi K, Ariga M, Eto Y (2008) Differences inCTGtriplet repeat expansion in leukemic cells and normal lymphocytes from a 14-year-old female with congenital myotonic dystrophy. Pediatr Blood Cancer 51:563-565
23. Jinnai K, Sugio T, Mitani M, Hashimoto K, Takahashi K (1999) Elongation of (CTG)n repeats in myotonic dystrophy protein kinase gene in tumors associated with myotonic dystrophy patients. Muscle Nerve 22:1271-1274
24. 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 23:804-806
25. Jansen G, Willems P, Coerwinkel M, Nillesen W, Smeets H, Vits L, Howeler C, Brunner H, Wieringa B (1994) Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm. Am J Hum Genet 54:575-585
26. Banuls J, Botella R, Palau F, Ramon R, Diaz C, Paya A, Carnero L, Vergara G (2004) Tissue and tumor mosaicism of the myotonin protein kinase gene trinucleotide repeat in a patient with multiple basal cell carcinomas associated with myotonic dystrophy. J Am Acad Dermatol 50:S1-S3
27. Bergmann MM, Calle EE, Mervis CA, Miracle-McMahill HL, Thun MJ, Heath CW (1998) Validity of self-reported cancers in a prospective cohort study in comparison with data from state cancer registries. Am J Epidemiol 147:556-562
28. Desai MM, Bruce ML, Desai RA, Druss BG (2001) Validity of self-reported cancer history: a comparison of health interview data and cancer registry records. Am J Epidemiol 153:299-306
29. Klein BE, Lee KE, Moss SE, Trentham-Dietz A, Klein R (2010) Self-and registry-reported cancer in a population-based longitudinal study. WMJ 109:261-266