Skip to main content

Advertisement

SpringerLink
Log in

Hypothesis: neoplasms in myotonic dystrophy

  • Original paper
  • Published:
Cancer Causes & Control Aims and scope Submit manuscript

Abstract

Tumorigenesis is a multi-step process due to an accumulation of genetic mutations in multiple genes in diverse pathways which ultimately lead to loss of control over cell growth. It is well known that inheritance of rare germline mutations in genes involved in tumorigenesis pathways confer high lifetime risk of neoplasia in affected individuals. Furthermore, a substantial number of multiple malformation syndromes include cancer susceptibility in their phenotype. Studies of the mechanisms underlying these inherited syndromes have added to the understanding of both normal development and the pathophysiology of carcinogenesis. Myotonic dystrophy (DM) represents a group of autosomal dominant, multisystemic diseases that share the clinical features of myotonia, muscle weakness, and early-onset cataracts. Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) result from unstable nucleotide repeat expansions in their respective genes. There have been multiple reports of tumors in individuals with DM, most commonly benign calcifying cutaneous tumors known as pilomatricomas. We provide a summary of the tumors reported in DM and a hypothesis for a possible mechanism of tumorigenesis. We hope to stimulate further study into the potential role of DM genes in tumorigenesis, and help define DM pathogenesis, and facilitate developing novel treatment modalities.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Harper PS (2001) Myotonic dystrophy. WB Saunders, London

    Google Scholar 

  2. The International Myotonic Dystrophy Consortium (IDMC) (2000) New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). Neurology 54:1218–1221

    Google Scholar 

  3. 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

    PubMed  CAS  Google Scholar 

  4. Ogata K, Takahashi A, Oguchi N, Ishitoya J, Fuse S, Shimpo T (1998) Somatic mosaicism of p(CTG)n expansion in a case of myotonic dystrophy with parotid tumor. Rinsho Shinkeigaku 38:736–738

    PubMed  CAS  Google Scholar 

  5. Kinoshita M, Igarashi A, Komori T et al (1997) Differences in CTG triplet repeat expansions in an ovarian cancer and cyst from a patient with myotonic dystrophy. Muscle Nerve 20:622–624

    PubMed  CAS  Google Scholar 

  6. 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

    PubMed  CAS  Google Scholar 

  7. Banuls J, Botella R, Palau F et al (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

    PubMed  Google Scholar 

  8. Moxley RTIII (1994) Potential for growth factor treatment of muscle disease. Curr Opin Neurol 7:427–434

    PubMed  Google Scholar 

  9. Vlachopapadopoulou E, Zachwieja JJ, Gertner JM et al (1995) Metabolic and clinical response to recombinant human insulin-like growth factor I in myotonic dystrophy—a clinical research center study. J Clin Endocrinol Metab 80:3715–3723

    PubMed  CAS  Google Scholar 

  10. Kaaks R (2004) Nutrition, insulin, IGF-1 metabolism and cancer risk: a summary of epidemiological evidence. Novartis Found Symp 262:247–260 Discussion 260–268

    PubMed  CAS  Google Scholar 

  11. Marrogi AJ, Dehner LP, Coffin C, Wick MR (1992) Pilomatrical neoplasms in children and young adults. Am J Dermatopath 14:87–94

    Article  PubMed  CAS  Google Scholar 

  12. Moehlenbeck FW (1973) Pilomatricoma (calcifying epithelioma). A statistical study. Arch Dermatol 108:532–534

    PubMed  CAS  Google Scholar 

  13. Julian CG, Bowers PW (1998) A clinical review of 209 pilomatricomas. J Am Acad Dermatol 39:191–195

    PubMed  CAS  Google Scholar 

  14. Masuno M, Imaizumi K, Ishii T, Kuroki Y, Baba N, Tanaka Y (1998) Pilomatricomas in Rubinstein-Taybi syndrome. Am J Med Genet 77:81–82

    PubMed  CAS  Google Scholar 

  15. 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

    PubMed  CAS  Google Scholar 

  16. Hills RJ, Ive FA (1992) Familial multiple pilomatricomas. Br J Dermatol 127:194–195

    PubMed  CAS  Google Scholar 

  17. Cantwell AR Jr, Reed WB (1965) Myotonia atrophica and multiple calcifying epithelioma of Malherbe. Acta Derm Venereol 45:387–390

    PubMed  Google Scholar 

  18. White GM (1992) Multiple pilomatricomas of the scalp. Int J Dermatol 31:348–350

    PubMed  CAS  Google Scholar 

  19. Urvoy M, Legall F, Toulemont PJ, Chevrant-Breton J (1996) Multiple pilomatricoma. Apropos of a case. J Fr Ophtalmol 19:464–466

    PubMed  CAS  Google Scholar 

  20. Street ML, Rogers RSIII (1991) Multiple pilomatricomas and myotonic dystrophy. J Dermatol Surg Oncol 17:728–730

    PubMed  CAS  Google Scholar 

  21. Schwartz BK, Peraza JE (1987) Pilomatricomas associated with myotonic dystrophy. J Am Acad Dermatol 16:887–888

    PubMed  CAS  Google Scholar 

  22. Salerni E, Bonatti ML, D’Aurizio C, Baldassarre M, D’Alessandro E, Prencipe M (1988) Multiple pilomatricomas and myotonic dystrophy: a case report. Riv Neurol 58:124–126

    PubMed  CAS  Google Scholar 

  23. Runne U, Chilf GN, Zentner J (1982) Multiple pilomatricomas as symptoms of Curschmann-Steinert myotonia dystrophica. Hautarzt 33:271–275

    PubMed  CAS  Google Scholar 

  24. Ribera M, Calderon P, Barranco C, Ferrandiz C (1989) Multiple pilomatricomas associated with myotonic dystrophy and medullary carcinoma of the thyroid. Med Cutan Ibero Lat Am 17:395–398

    PubMed  CAS  Google Scholar 

  25. Nishie W, Iitoyo M, Miyazawa H (2001) Follicular cyst in a patient with myotonic dystrophy: a case of cyst with differentiation toward follicular infundibulum, isthmus, inner root sheath, and hair. Am J Dermatopathol 23:521–524

    PubMed  CAS  Google Scholar 

  26. Martinez-Albaladejo M, Alguacil-Garcia G, de Paco-Moya M, Moreno-Requena J (1995) Dystrophia myotonica with multiple pilomatricomas. Rev Clin Esp 195:516–517

    PubMed  CAS  Google Scholar 

  27. Laredo Ortiz C, Munoz Romero F, Mallent Anon J, Domenech Miro E, Tafalla Pena M (1997) Multiple pilomatricomas associated with Steinert disease. An Med Interna 14:409–411

    PubMed  CAS  Google Scholar 

  28. Kopeloff I, Orlow SJ, Sanchez MR (1992) Multiple pilomatricomas: report of two cases and review of the association with myotonic dystrophy. Cutis 50:290–292

    PubMed  CAS  Google Scholar 

  29. Harper PS (1972) Calcifying epithelioma of Malherbe. Association with myotonic muscular dystrophy. Arch Dermatol 106:41–44

    PubMed  CAS  Google Scholar 

  30. Harper PS (1971) Calcifying epithelioma of Malherbe and myotonic dystrophy in sisters. Birth Defects Orig Artic Ser 7:343–345

    PubMed  CAS  Google Scholar 

  31. Graells J, Servitje O, Badell A, Notario J, Peyri J (1996) Multiple familial pilomatricomas associated with myotonic dystrophy. Int J Dermatol 35:732–733

    PubMed  CAS  Google Scholar 

  32. Geh JL, Moss AL (1999) Multiple pilomatricomata and myotonic dystrophy: a familial association. Br J Plast Surg 52:143–145

    PubMed  CAS  Google Scholar 

  33. Filla A, Perretti A, Barbieri F et al (1982) Myotonic dystrophy and pilomatricomas: an unusual association. Acta Neurol (Napoli) 4:79–91

    CAS  Google Scholar 

  34. Farrell AM, Ross JS, Barton SE, Bunker CB (1995) Multiple pilomatricomas and myotonic dystrophy in a patient with AIDS. Clin Exp Dermatol 20:423–424

    PubMed  CAS  Google Scholar 

  35. Draper MR, Pickles JM (2000) Pleomorphic adenoma and myotonic dystrophy: an association? J Laryngol Otol 114:985–987

    PubMed  CAS  Google Scholar 

  36. Delfino M, Monfrecola G, Ayala F, Suppa F, Piccirillo A (1985) Multiple familial pilomatricomas: a cutaneous marker for myotonic dystrophy. Dermatologica 170:128–132

    PubMed  CAS  Google Scholar 

  37. Chiaramonti A, Gilgor RS (1978) Pilomatricomas associated with myotonic dystrophy. Arch Dermatol 114:1363–1365

    PubMed  CAS  Google Scholar 

  38. Bouadjar B, Masmoudi AN, Bouhadef A, Ysmail-Dahlouk M (1992) Multiple pilomatricoma and myotonic dystrophy. Ann Dermatol Venereol 119:899–900

    PubMed  CAS  Google Scholar 

  39. Betlloch I, Morell A, Silvestre JF, Sevila A, Banuls J, Alfonso R (1997) Pilomatricoma and myotonic dystrophy. Letter. Rev Neurol 25:306–307

    PubMed  CAS  Google Scholar 

  40. Barberio E, Nino M, Dente V, Delfino M (2002) Guess what! Multiple pilomatricomas and Steiner disease. Eur J Dermatol 12:293–294

    PubMed  Google Scholar 

  41. Aso M, Shimao S, Takahashi K (1981) Pilomatricomas: association with myotonic dystrophy. Dermatologica 162:197–202

    PubMed  CAS  Google Scholar 

  42. Berberian BJ, Colonna TM, Battaglia M, Sulica VI (1997) Multiple pilomatricomas in association with myotonic dystrophy and a family history of melanoma. J Am Acad Dermatol 37:268–269

    PubMed  CAS  Google Scholar 

  43. Varras M, Polyzos D, Alexopoulos C, Pappa P, Akrivis C (2003) Torsion of a non-gravid leiomyomatous uterus in a patient with myotonic dystrophy complaining of acute urinary retention: anaesthetic management for total abdominal hysterectomy. Clin Exp Obstet Gynecol 30:147–150

    PubMed  CAS  Google Scholar 

  44. Vandecaveye V, Verswijvel G, Colla P, Verhelst H, VanRobaeys J, Palmers Y (2003) Cystic insulinoma of the pancreas in a patient with myotonic dystrophy: correlation of imaging and pathologic findings. Jbr-Btr 86:268–271

    PubMed  CAS  Google Scholar 

  45. Suzuki H, Aoyagi M (2003) Anesthetic management with a laryngeal mask airway for gastrectomy in a patient with myotonic dystrophy. Masui 52:993–995

    PubMed  Google Scholar 

  46. Sugio T, Jinnai K, Ohara T et al (1999) Myotonic dystrophy associated with insulinoma. Intern Med 38:504–506

    PubMed  CAS  Google Scholar 

  47. Stieler W, Plewig G (1986) Multiple basaliomas in Curschmann-Steinert myotonia atrophica. Hautarzt 37:226–229

    PubMed  CAS  Google Scholar 

  48. Saponaro AE, Marini MA, Rossi GC, Casas JG (2006) Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1. Int J Dermatol 45:87–88

    PubMed  Google Scholar 

  49. Rosenberg NL, Diliberti JH, Andrews AM, Buist NR (1988) Myotonic dystrophy and hyperparathyroidism: association with neurofibromatosis and multiple endocrine adenomatosis type 2A. J Neurol Neurosurg Psychiatry 51:1578–1580

    PubMed  CAS  Google Scholar 

  50. Reimund JM, Duclos B, Chamouard P, Warter JM, Weill JP, Baumann R (1992) Intestinal carcinoid tumor and myotonic dystrophy. A new association? Dig Dis Sci 37:1922–1925

    PubMed  CAS  Google Scholar 

  51. Mudge BJ, Taylor PB, Vanderspek AF (1980) Perioperative hazards in myotonic dystrophy. Anaesthesia 35:492–495

    PubMed  CAS  Google Scholar 

  52. Montella L, Caraglia M, Addeo R et al (2005) Atrial fibrillation following chemotherapy for stage IIIE diffuse large B-cell gastric lymphoma in a patient with myotonic dystrophy (Steinert’s disease). Ann Hematol 84:192–193

    PubMed  Google Scholar 

  53. Molina MJ, Lara JI, Riobo P et al (1996) Primary hyperthyroidism and associated hyperparathyroidism in a patient with myotonic dystrophy: Steinert with hyperthyroidism and hyperparathyroidism. Am J Med Sci 311:296–298

    PubMed  CAS  Google Scholar 

  54. Mascalchi M, Padovani R, Taiuti R, Quilici N (1998) Syringomyelia in myotonic dystrophy due to spinal hemangioblastoma. Surg Neurol 50:446–448

    PubMed  CAS  Google Scholar 

  55. 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 44:173–175

    PubMed  CAS  Google Scholar 

  56. Kudva GC, Maliekel K, Kim HJ et al (2002) Thymoma and myotonic dystrophy: successful treatment with chemotherapy and radiation: case report and review of the literature. Chest 121:2061–2063

    PubMed  Google Scholar 

  57. 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 41:312–318

    PubMed  Google Scholar 

  58. Kerbrat P, Toussaint C, Ben Hassel M, Guerin D (1987) Association of Steinert’s disease and testicular cancer. Presse Med 16:1434

    PubMed  CAS  Google Scholar 

  59. Johannesson G, Henriksson KG, Odkvist L (1978) Coincidence of dystrophia myotonica and pleomorphic adenoma of the parotid gland. Acta Neurol Scand 57:275–278

    PubMed  CAS  Google Scholar 

  60. Itin PH, Laeng RH (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

    PubMed  CAS  Google Scholar 

  61. Hirai T, Yamanaka A, Fujimoto T, Takahashi A, Takayama Y, Yamanaka K (2001) Multiple thymoma with myotonic dystrophy. Jpn J Thorac Cardiovasc Surg 49:457–460

    PubMed  CAS  Google Scholar 

  62. Harada S, Matsumoto T, Ikeda K, Fukumoto S, Ihara Y, Ogata E (1987) Association of primary hyperparathyroidism with myotonic dystrophy in two patients. Arch Intern Med 147:777–778

    PubMed  CAS  Google Scholar 

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

    Google Scholar 

  64. Garcia Delgado E, Ruiz Galiana J (1988) Association of primary hyperparathyroidism with myotonic dystrophy in two patients. Arch Intern Med 148:237–241

    PubMed  CAS  Google Scholar 

  65. Fraumeni JF Jr, Chabner BA, Li FP, Carbone PP (1969) Myotonic dystrophy and leukemia. JAMA 208:696

    PubMed  Google Scholar 

  66. Caughey JE (1958) Hypogonadism and pituitary tumours; report of a case of dystrophia myotonica with hypogonadism and acromegaly. N Z Med J 57:482–486

    PubMed  CAS  Google Scholar 

  67. Carlin L, Biller J (1981) Myotonic dystrophy and thymoma. J Neurol Neurosurg Psychiatry 44:852–853

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  69. Bell E, Lorimer AR, Hinnie J (1994) Association between myotonic dystrophy and primary hyperparathyroidism. J Int Med Res 22:296–298

    PubMed  CAS  Google Scholar 

  70. Banna M, Bradley WG, Pearce GW (1973) Massive pituitary adenoma in a patient with dystrophia myotonica. J Neurol Sci 20:1–6

    PubMed  CAS  Google Scholar 

  71. Azurdia RM, Verbov JL (1999) Myotonic dystrophy and basal cell carcinoma—a true association? Br J Dermatol 141:941–942

    PubMed  CAS  Google Scholar 

  72. Ando T, Goto R, Ohnishi H, Ishida M, Obara H (2004) Anesthetic management for a patient of myotonic dystrophy with pheochromocytoma. Masui 53:1290–1292

    PubMed  Google Scholar 

  73. Ichikawa K, Crosley CJ, Culebras A, Weitkamp L (1981) Coincidence of neurofibromatosis and myotonic dystrophy in a kindred. J Med Genet 18:134–138

    PubMed  CAS  Google Scholar 

  74. Pruzanski W, Adler H (1966) Myotonic dystrophy, acute intermittent porphyria and neurofibromatosis in one patient. Acta Genet Stat Med 16:103–112

    PubMed  CAS  Google Scholar 

  75. Wong LJ, Ashizawa T, Monckton DG, Caskey CT, Richards CS (1995) Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am J Hum Genet 56:114–122

    PubMed  CAS  Google Scholar 

  76. Ansved T, Edstrom L, Grandell U, Hedberg B, Anvret M (1997) Variation of CTG-repeat number of the DMPK gene in muscle tissue. Neuromuscul Disord 7:152–155

    PubMed  CAS  Google Scholar 

  77. Day JW, Ricker K, Jacobsen JF et al (2003) Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 60:657–664

    PubMed  CAS  Google Scholar 

  78. Nag DK (2003) Trinucleotide repeat expansions: timing is everything. Trends Mol Med 9:455–457

    PubMed  CAS  Google Scholar 

  79. Lenzmeier BA, Freudenreich CH (2003) Trinucleotide repeat instability: a hairpin curve at the crossroads of replication, recombination, and repair. Cytogenet Genome Res 100:7–24

    PubMed  CAS  Google Scholar 

  80. Cleary JD, Pearson CE (2003) The contribution of cis-elements to disease-associated repeat instability: clinical and experimental evidence. Cytogenet Genome Res 100:25–55

    PubMed  CAS  Google Scholar 

  81. Reddy S, Smith DB, Rich MM et al (1996) Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nat Genet 13:325–335

    PubMed  CAS  Google Scholar 

  82. Jansen G, Groenen PJ, Bachner D et al (1996) Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nat Genet 13:316–324

    PubMed  CAS  Google Scholar 

  83. Machuca-Tzili L, Brook D, Hilton-Jones D (2005) Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve 32:1–18

    PubMed  CAS  Google Scholar 

  84. Kanadia RN, Johnstone KA, Mankodi A et al (2003) A muscleblind knockout model for myotonic dystrophy. Science 302:1978–1980

    PubMed  CAS  Google Scholar 

  85. Ho TH, Charlet BN, Poulos MG, Singh G, Swanson MS, Cooper TA (2004) Muscleblind proteins regulate alternative splicing. EMBO J 23:3103–3112

    PubMed  CAS  Google Scholar 

  86. Ho TH, Bundman D, Armstrong DL, Cooper TA (2005) Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy. Hum Mol Genet 14:1539–1547

    PubMed  CAS  Google Scholar 

  87. Lazar AJ, Calonje E, Grayson W et al (2005) Pilomatrix carcinomas contain mutations in CTNNB1, the gene encoding beta-catenin. J Cutan Pathol 32:148–157

    PubMed  Google Scholar 

  88. Kajino Y, Yamaguchi A, Hashimoto N, Matsuura A, Sato N, Kikuchi K (2001) Beta-catenin gene mutation in human hair follicle-related tumors. Pathol Int 51:543–548

    PubMed  CAS  Google Scholar 

  89. Chan EF, Gat U, McNiff JM, Fuchs E (1999) A common human skin tumour is caused by activating mutations in beta-catenin. Nat Genet 21:410–413

    PubMed  CAS  Google Scholar 

  90. Gat U, DasGupta R, Degenstein L, Fuchs E (1998) De Novo hair follicle morphogenesis and hair tumors in mice expressing a truncated beta-catenin in skin. Cell 95:605–614

    PubMed  CAS  Google Scholar 

  91. Zhao X, Ren W, Yang W et al (2006) Wnt pathway is involved in pleomorphic adenomas induced by overexpression of PLAG1 in transgenic mice. Int J Cancer 118:643–648

    PubMed  CAS  Google Scholar 

  92. El-Bahrawy M, El-Masry N, Alison M, Poulsom R, Fallowfield M (2003) Expression of beta-catenin in basal cell carcinoma. Br J Dermatol 148:964–970

    PubMed  CAS  Google Scholar 

  93. Saldanha G, Ghura V, Potter L, Fletcher A (2004) Nuclear beta-catenin in basal cell carcinoma correlates with increased proliferation. Br J Dermatol 151:157–164

    PubMed  CAS  Google Scholar 

  94. Reifenberger J, Knobbe CB, Wolter M et al (2002) Molecular genetic analysis of malignant melanomas for aberrations of the WNT signaling pathway genes CTNNB1, APC, ICAT and BTRC. Int J Cancer 100:549–556

    PubMed  CAS  Google Scholar 

  95. Polakis P (2000) Wnt signaling and cancer. Genes Dev 14:1837–1851

    PubMed  CAS  Google Scholar 

  96. Groden J, Thliveris A, Samowitz W et al (1991) Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66:589–600

    PubMed  CAS  Google Scholar 

  97. Burt RW (2000) Colon cancer screening. Gastroenterology 119:837–853

    PubMed  CAS  Google Scholar 

  98. Miller RW, Rubinstein JH (1995) Tumors in Rubinstein-Taybi syndrome. Am J Med Genet 56:112–115

    PubMed  CAS  Google Scholar 

  99. Taine L, Goizet C, Wen ZQ et al (1998) Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome. Am J Med Genet 78:267–270

    PubMed  CAS  Google Scholar 

  100. Roelfsema JH, White SJ, Ariyurek Y et al (2005) Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet 76:572–580

    PubMed  CAS  Google Scholar 

  101. Bartsch O, Schmidt S, Richter M et al (2005) DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet 117:485–493

    PubMed  CAS  Google Scholar 

  102. Bartsch O, Locher K, Meinecke P et al (2002) Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. J Med Genet 39:496–501

    PubMed  CAS  Google Scholar 

  103. Polakis P (2002) Casein kinase 1: a Wnt’er of disconnect. Curr Biol 12:R499–R501

    PubMed  CAS  Google Scholar 

  104. Behrens J (2005) The role of the Wnt signalling pathway in colorectal tumorigenesis. Biochem Soc Trans 33:672–675

    PubMed  CAS  Google Scholar 

  105. Iwao K, Nakamori S, Kameyama M et al (1998) Activation of the beta-catenin gene by interstitial deletions involving exon 3 in primary colorectal carcinomas without adenomatous polyposis coli mutations. Cancer Res 58:1021–1026

    PubMed  CAS  Google Scholar 

  106. Takemaru KI, Moon RT (2000) The transcriptional coactivator CBP interacts with beta-catenin to activate gene expression. J Cell Biol 149:249–254

    PubMed  CAS  Google Scholar 

  107. Sun Y, Kolligs FT, Hottiger MO, Mosavin R, Fearon ER, Nabel GJ (2000) Regulation of beta -catenin transformation by the p300 transcriptional coactivator. Proc Natl Acad Sci USA 97:12613–12618

    PubMed  CAS  Google Scholar 

  108. Labalette C, Renard CA, Neuveut C, Buendia MA, Wei Y (2004) Interaction and functional cooperation between the LIM protein FHL2, CBP/p300, and beta-catenin. Mol Cell Biol 24:10689–10702

    PubMed  CAS  Google Scholar 

  109. Iyer NG, Ozdag H, Caldas C (2004) p300/CBP and cancer. Oncogene 23:4225–4231

    PubMed  CAS  Google Scholar 

  110. Iakova P, Wang GL, Timchenko L et al (2004) Competition of CUGBP1 and calreticulin for the regulation of p21 translation determines cell fate. EMBO J 23:406–417

    PubMed  CAS  Google Scholar 

  111. Mukai K, Sato Y, Hirohashi S, Shimosato Y (1990) Expression of ras p21 protein by thymoma. Virchows Arch B Cell Pathol Incl Mol Pathol 59:11–16

    PubMed  CAS  Google Scholar 

  112. Saegusa M, Hashimura M, Kuwata T, Hamano M, Okayasu I (2004) Beta-catenin simultaneously induces activation of the p53–p21WAF1 pathway and overexpression of cyclin D1 during squamous differentiation of endometrial carcinoma cells. Am J Pathol 164:1739–1749

    PubMed  CAS  Google Scholar 

  113. Kamei J, Toyofuku T, Hori M (2003) Negative regulation of p21 by beta-catenin/TCF signaling: a novel mechanism by which cell adhesion molecules regulate cell proliferation. Biochem Biophys Res Commun 312:380–387

    PubMed  CAS  Google Scholar 

  114. Gartel AL, Radhakrishnan SK (2005) Lost in transcription: p21 repression, mechanisms, and consequences. Cancer Res 65:3980–3985

    PubMed  CAS  Google Scholar 

  115. Justice RW, Zilian O, Woods DF, Noll M, Bryant PJ (1995) The Drosophila tumor suppressor gene warts encodes a homolog of human myotonic dystrophy kinase and is required for the control of cell shape and proliferation. Genes Dev 9:534–546

    PubMed  CAS  Google Scholar 

Download references

Acknowledgments

These observations are offered in memory of Dr. Robert W. Miller, Scientist Emeritus at the National Cancer Institute, who was a pioneer in leveraging alert clinical observations into paradigm-altering etiologic insights. He remains a role model and an inspiration to all those fortunate enough to have known him. Funding: This work was supported through funding provided by (1) Intramural Research Program of the National Cancer Institute (2) The National Registry of DM and FSHD Patients and Family Members is supported through the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the National Institute of Neurological Disorders and Stroke, #NO1-AR-5-2274 (3) University of Rochester Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center (NIH/NS48843).

Author information

Authors and Affiliations

  1. Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health/DHHS, 6120 Executive Boulevard, EPS 7101, Rockville, MD, 20852-7231, USA

    Christine M. Mueller & Mark H. Greene

  2. Neuromuscular Disease Center, University of Rochester Medical Center, Rochester, NY, USA

    James E. Hilbert, William Martens, Charles A. Thornton & Richard T. Moxley III

Authors
  1. Christine M. Mueller
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. James E. Hilbert
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. William Martens
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Charles A. Thornton
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Richard T. Moxley III
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Mark H. Greene
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Christine M. Mueller.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Mueller, C.M., Hilbert, J.E., Martens, W. et al. Hypothesis: neoplasms in myotonic dystrophy. Cancer Causes Control 20, 2009–2020 (2009). https://doi.org/10.1007/s10552-009-9395-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10552-009-9395-y

Keywords

Search

Navigation