Open Access
Issue
Med Buccale Chir Buccale
Volume 17, Number 2, Mai 2011
Page(s) 147 - 165
Section Observations cliniques / Case reports
DOI https://doi.org/10.1051/mbcb/2011108
Published online 25 April 2011
  1. Lloyd KM, Dennis M. Cowden’s disease : a possible new symptom complex with multiple system involvement. Ann Intern Med 1963;58:136-42. [PubMed]
  2. Weary PE, Gorlin RJ, Gentry WCJ, Comer JE, Greer KE. Multiple hamartoma syndrome (Cowden’s disease). Arch Dermatol 1972;106:682-90. [CrossRef] [PubMed]
  3. Gentry WC Jr, Eskritt NR, Gorlin RJ. Multiple hamartoma syndrome (Cowden disease). Arch Dermatol 1974;109:521-5. [CrossRef] [PubMed]
  4. Starink TM, van der Veen JP, Arwert F, de Waal LP, de Lange GG, Gille JJ, Eriksson AW. The Cowden syndrome : a clinical and genetic study in 21 patients. Clin Genet 1986;29:222-33. [CrossRef] [PubMed]
  5. Brownstein MH, Mehregan AH, Bikowski JB, Lupulescu A, Patterson JC. The dermatopathology of Cowden’s syndrome. Br J Dermatol 1979;100:667-73. [CrossRef] [PubMed]
  6. Salem OS, Steck WD. Cowden’s disease (multiple hamartoma and neoplasia syndrome). A case report and review of the english literature. J Am Acad Dermatol 1983;8:686-96. [CrossRef] [PubMed]
  7. Nelen MR, Padberg GW, Peeters EAJ, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MMM, Easton DF, Eeles RA, Hodgson S, Mulvihill JJ, Murday VA, Tucker MA, Mariman ECM, Starink TM, Ponder BAJ, Ropers HH, Kremer H, Longy M, Eng C. Localization of the gene for Cowden disease to 10q22-23. Nat Genet 1996;13:114-6. [CrossRef] [PubMed]
  8. Li J, Yen C, Liaw D, Podsypanina K, Bose S, Wan SI, Puc J, Miliaresis C, Rodgers L, McCombie R, Bigner SH, Giovanella BC, Ittmann M, Tycko B, Hibshoosh H, Wigler MH, Parsons R. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science 1997;275:1943-7. [CrossRef] [PubMed]
  9. Steck PA, Pershouse MA, Jasser SA, Yung WKA, Lin H, Ligon AH, Langford LA, Baumgard ML, Hattier T, Davis T, Frye C, Hu R, Swedlund B, Teng DHR, Tavtigian SV. Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nature Genet 1997;15:356-62. [CrossRef]
  10. Li DM, Sun H. TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta. Cancer Res 1997;57:2124-9. [PubMed]
  11. Liaw D, Marsh DJ, Li J, Dahia PLM, Wang SI, Zheng Z, Bose S, Call KM, Tsou HC, Peacocke M, Eng C, Parsons R, Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 1997;16:64-7. [CrossRef] [PubMed]
  12. Nelen MR, van Staveren WC, Peeters EA, Ben Hassel M, Gorlin RJ, Hamm H, Lindboe CF, Fryns JP, Sijmons RH, Woods DG, Mariman ECM, Padberg GW, Kremer H. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet 1997;6:1383-7. [CrossRef] [PubMed]
  13. Tsou HC, Ping XL, Xie XX, Gruener AC, Zhang H, Nini R, Swisshelm K, Sybert V, Diamond TM, Stuphen R, Peacocke M. The genetic basis of Cowden’s syndrome : three novel mutations in PTEN/MMAC1/TEP1. Hum Genet 1998;102:467-73. [CrossRef] [PubMed]
  14. Pilarski R. Cowden syndrome : a critical review of the clinical literature. J Genet Couns 2009;18:13-27. [CrossRef] [PubMed]
  15. Mignogna MD, Lo Muzio L, Ruocco V, Bucci M. Early diagnosis of multiple hamartoma and neoplasia syndrome (Cowden disease). The role of the dentist. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1995;79:295-9. [CrossRef] [PubMed]
  16. Lee HR, Moon YS, Yeom CH, Kim KW, Chun JY, Kim HK, Choi HS, Kim DK, Chung TS. Cowden’s disease : a report on the first case in Korea and literature review. J Med Sci 1997;12:570-5.
  17. Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PLM, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cbarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Le Prat F, Odent S, Toulouse C, Olopade OI, Sobol H, Tishler S, Woods CG, Robinson BG, Weber HC, Parsons R, Peacocke M, Longy M, Eng C. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan- Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 1998;7:507-15. [CrossRef] [PubMed]
  18. Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Tolmie JL, Trembath R, Winter RM, Zackai EH, Zori RT, Weng LP, Dahia PLM, Eng C. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 1999;8:1461-72. [CrossRef] [PubMed]
  19. Lachlan KL, Lucassen AM, Bunyan D, Temple IK. Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance : results of a clinical study of PTEN mutation carriers. J Med Genet 2007;44:579-85. [CrossRef] [PubMed]
  20. Hachicha M, Kammoun T, Chabchoub I, Bahloul, Turki H, Drira M, Zahaf, Triki A. La maladie de Cowden : une nouvelle observation pédiatrique. Arch Pediatr 2006;13:459-62. [CrossRef] [PubMed]
  21. Gimm O, Attié-Bitach T, Lees JA, Vekemans M, Eng C. Expression of the PTEN tumor suppressor protein during human development. Hum Mol Genet 2000;9:1633-9. [CrossRef] [PubMed]
  22. Longy M, Lacombe D. Cowden disease. Report of a family and review. Ann Genet 1996;39:35-42.
  23. Hand JL, Rogers RS 3rd. Oral manifestations of genodermatoses. Dermatol Clin 2003;21:183-94. [PubMed]
  24. SEER cancer statistics review, 1975-2005. http://seer.cancer.gov/csr/1975_2005/
  25. Fackenthal JD, Marsh DJ, Richardson AL, Cummings SA, Eng C, Robinson BG, Olopad OI. Male breast cancer in Cowden syndrome patients with germline PTEN mutations. J Med Genet 2001;38:159-64. [CrossRef] [PubMed]
  26. Kay PS, Soetikno RM, Mindelzun R, Young HS. Diffuse esophageal glycogenic acanthosis : an endoscopic marker of Cowden’s disease. Am J Gastroenterol 1997;92:1038-40. [PubMed]
  27. Chen HM, Fang JY. Genetics of the hamartomatous polyposis syndromes : a molecular review. Int J Colorectal Dis 2009;24:865-74. [CrossRef] [PubMed]
  28. Turnbull MM, Humeniuk V, Stein B, Suthers GK. Arteriovenous malformations in Cowden syndrome. J Med Genet 2005;42:e50. [CrossRef] [PubMed]
  29. Tan WH, Baris HN, Burrows PE, Robson CD, Alomari AI, Mulliken JB, Fishman SJ, Irons MB. The spectrum of vascular anomalies in patients with PTEN mutations : implications for diagnosis and management. J Med Genet 2007;44:594-602. [CrossRef] [PubMed]
  30. Padberg GW, Schot JDL, Vielvoye, GJ, Bots GT, De Beer FC. Lhermitte-Duclos disease and Cowden disease : a single phakomatosis. Ann Neurol 1991;29:517-23. [CrossRef] [PubMed]
  31. Albrecht S, Haber RM, Goodman JC, Duvic M. Cowden syndrome and Lhermitte-Duclos disease. Cancer 1992;70:869-76. [CrossRef] [PubMed]
  32. Eng C, Murday V, Seal S, Mohammed S, Hodgson SV, Chaudary MA, Fentiman IS, Ponder BA, Eeles RA. Cowden syndrome and Lhermitte-Duclos disease in a family : a single genetic syndrome with pleiotropy? J Med Genet 1994;31:458-61. [CrossRef] [PubMed]
  33. Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C. Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. Am J Hum Genet 2003;73:404-11. [CrossRef] [PubMed]
  34. Wells GB, Lasner TM, Yousem DM, Zager EL. Lhermitte-Duclos disease and Cowden’s syndrome in an adolescent patient. Case report. J Neurosurg 1994;81:133-6.
  35. Riley HD, Smith WR. Macrocephaly, pseudopapilledema and multiple hemangiomata. A previously undescribed heredofamilial syndrome. Pediatrics 1960;26:293-300.
  36. Bannayan GA. Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome. Arch Pathol 1971;92:1-5. [PubMed]
  37. Zonana J, Rimoin DL, Davis DC. Macrocephaly with multiple lipomas and hemangiomas. J Pediatr 1976;89:600-2. [CrossRef] [PubMed]
  38. Ruvalcaba RHA, Myhre S, Smith DW. Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia. Clin Genet 1980;18:413-6. [CrossRef] [PubMed]
  39. Hobert JA, Eng C. PTEN hamartoma tumor syndrome : an overview. Genet Med 2009;11:687-94. [CrossRef] [PubMed]
  40. Eng C. PTEN : one gene, many syndromes. Human Mutation 2003;22:183-98. [CrossRef] [PubMed]
  41. Celebi JT, Tsou HC, Chen FF, Zhang H, Xiao LP, Lebwhol MG, Kezis J, Peacocke M. Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. J Med Genet 1999;36:360-4. [PubMed]
  42. Hendriks YM, Verhallen JT, Van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, Van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH. Bannayan-Riley-Ruvalcaba syndrome : further delineation of the phenotype and management of PTEN mutation-positive cases. Fam Cancer 2003;2:79-85. [CrossRef] [PubMed]
  43. Lee JO, Yang H, Georgescu MM, Di Cristofano A, Maehama T, Shi Y, Dixon JE, Pandolfi P, Pavletich NP. Crystal structure of the PTEN tumor suppressor : implications for its phosphoinositide phosphatise activity and membrane association. Cell 1999;99:323-34. [CrossRef] [PubMed]
  44. Ginn-Pease ME, Eng C. Increased nuclear phosphatase and tensin homologue deleted on chromosome 10 is associated with G0-G1 in MCF-7 cells. Cancer Res 2003;63:282-6. [PubMed]
  45. Liu JL, Sheng X, Hortobagyi ZK, Mao Z, Gallick GE, Yung WK. Nuclear PTEN-mediated growth suppression is independent of Akt down-regulation. Mol Cell Biol 2005;25:6211-24. [CrossRef] [PubMed]
  46. Chung JH, Ginn-Pease ME, Eng C. Phosphatase and tensin homologue deleted on chromosome 10 (PTEN) has nuclear localization signal-like sequences for nuclear import mediated by major vault protein. Cancer Res 2005;65:4108-16. [CrossRef] [PubMed]
  47. Chung JH, Eng C. Nuclear-cytoplasmic partitioning of phosphatase and tensin homologue deleted on chromosome 10 (PTEN) differentially regulates the cell cycle and apoptosis. Cancer Res 2005;65:8096-100. [CrossRef] [PubMed]
  48. Gil A, Andres-Pons a, fernandez E, Valiente M, torres J, Cervera J, Pulido R. Nuclear localization of PTEN by a Ran-dependent mechanism enhances apoptosis : involvement of an N-terminal nuclear localization domain and multiple nuclear exclusion motifs. Mol Biol Cell 2006;17:4002-13. [CrossRef] [PubMed]
  49. Denning G, Jean-Joseph B, Prince C, Durden DL, Vogt PK. A short N-terminal sequence of PTEN controls cytoplasmic localization and is required for suppression of cell growth. Oncogene 2007;26:3930-40. [CrossRef] [PubMed]
  50. Trotman LC, Wang X, Alimonti A, Chen Z, Teruya-Feldstein J, Yang H, Pavletich NP, Carver BS, Cordon-Cardo C, Erdjument-Bromage H. Ubiquitination regulates PTEN nuclear import and tumor suppression. Cell 2007;128:141-56. [CrossRef] [PubMed]
  51. Lobo GP, Waite K, Planchon S, Romigh T, Houghton JA, Eng C. ATP modulates PTEN subcellular localization in multiple cancer cell lines. Hum Mol Genet 2008;17:2877-85. [CrossRef] [PubMed]
  52. Myers MP, Stolarov JP, Eng C, Li J, Wang SI, Wigler MH, Parsons R, Tonks NK. P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase. Proc Natl Acad Sci USA 1997;94:9052-7. [CrossRef]
  53. Maehama T, Dixon JE. The tumor suppressor, PTEN/MMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3,4,5-triphosphate. J Biol Chem 1998;273:13375-8. [CrossRef] [PubMed]
  54. Maehama T, Dixon JE. PTEN : a tumor suppressor that functions as a phospholipid phosphatase. Cell Biol 1999;9:125-8.
  55. Peyrou M, Bourgoin L, Foti M. PTEN in liver diseases and cancer. World J Gastroenterol 2010;16:4627-33. [CrossRef] [PubMed]
  56. Chung JH, Ostrowski MC, Romigh T, Minaguchi T, Waite KA, Eng C. The ERK1/2 pathway modulates nuclear PTEN-mediated cell cycle arrest by cyclin D1 transcriptional regulation. Hum Mol Genet 2006;15:2553-9. [CrossRef] [PubMed]
  57. Liu F, Wagner S, Campbell R, Nickerson J, Schiffer C, Ross A. PTEN enters the nucleus by diffusion. J Cell Biochem 2005;96:221-34. [CrossRef] [PubMed]
  58. Shen W, Balajee A, Wang J, Wu H, Eng C, Pandolfi PP, Yin Y. Essential role for nuclear PTEN in maintaining chromosomal integrity. Cell 2007;128:157-70. [CrossRef] [PubMed]
  59. Saal LH, Gruvberger-Saal SK, Persson C, Lovgren K, Jumppanen M, Staaf J, Jonsson G, Pires MM, Maurer M, Holm K. Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair. Nat Genet 2008;40:1027.
  60. Weng LP, Brown JL, Eng C. PTEN induces apoptosis and cell cycle arrest through phosphoinositol-3-kinase/Akt-dependent and –independent pathways. Hum Mol Genet 2001;3:237-42. [CrossRef]
  61. Waite KA, Eng C. Protean PTEN : form and function. Am J Hum Genet 2002; 70:829-44. [CrossRef] [PubMed]
  62. Yin Y, Shen WH. PTEN : a new guardian of the genome. Oncogene 2008;27:5443-53. [CrossRef] [PubMed]
  63. Davies MA, Lu Y, Sano T, Fang X, Tang P, La Puschin R, Koul D, Bookstein R, Stokoe D, Yung WKA, Mills GB, Steck PA. Adenoviral transgene expression of MMAC/PTEN in human glioma cells inhibits Akt activation and induces anoikis. Cancer Res 1998;58:5285-90. [PubMed]
  64. Sun H, Lesche R, Li DM, Liliental J, Zhang H, Gao J, Gavrilova N, Mueller B, Liu X, Wu H. PTEN modulates cell cycle progression and cell survival by regulating phosphatidylinositol 3,4,5,-trisphosphate and Akt/protein kinase B signaling pathway. Proc Natl Acad Sci USA 1999;96:6199-204. [CrossRef]
  65. Backman SA, Stambolic V, Suzuki A, Haight J, Elia A, Pretorius J, Tsao MS, Shannon P, Bolon B, Ivy GO, Mak TW. Deletion of PTEN in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease. Nat Genet 2001;29:396-403. [CrossRef] [PubMed]
  66. Tamura M, Gu J, Matsumoto K, Aota S, Parsons R, Yamada KM. Inhibition of cell migration, spreading, and focal adhesions by tumor suppressor PTEN. Science 1998;280:1614-7. [CrossRef] [PubMed]
  67. Liliental J, Moon SY, Lesche R, Mamillapalli R, Li D, Zheng Y, Sun H, Wu H. Genetic deletion of the PTEN tumor suppressor gene promotes cell motility by activation of Rac1 and Cdc42 GTPases. Curr Biol 2000;10:401-4. [CrossRef] [PubMed]
  68. Li J, Simpson L, Takahashi M, Miliaresis C, Myers MP, Tonks N, Parsons R. The PTEN/MMAC1 tumor suppressor induces cell death that is rescued by the AKT/protein kinase B oncogene. Cancer Res 1998;58:5667-72. [PubMed]
  69. Stambolic V, Suzuki A, de la Pompa JL, Brothers GM, Mirtsos C, Sasaki T, Ruland J, Penninger JM, Siderovski DP, Mak TW. Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN. Cell 1998;95:29-39. [CrossRef] [PubMed]
  70. Simpson L, Parsons R. PTEN : life as a tumor suppressor. Exp Cell Res 2001;264:29-41. [CrossRef] [PubMed]
  71. Stambolic V, MacPherson D, Sas D, Lin Y, Snow B, Jang Y, Benchimol S, Mak TW. Regulation of PTEN transcription by p53. Mol Cell 2001;8:317-25. [CrossRef] [PubMed]
  72. Tang Y, Eng C. p53 down-regulates phosphatase and tensin homologue deleted on chromosome 10 protein stability partially through caspase-mediated degradation in cells with proteasome dysfunction. Cancer Res 2006;66:6139-48. [CrossRef] [PubMed]
  73. Redfern RE, Daou M-C, Li L, Munson M, Gericke A, Ross AH. A mutant form of PTEN linked to autism. Prot Sci 2010;19:1948-56. [CrossRef]
  74. Eng C. Will the real Cowden syndrome please stand up : revised diagnostic criteria. J Med Genet 2000;37:828-30. [CrossRef] [PubMed]
  75. Zhou XP, Gimm O, Hampel H, Niemann T, Walker MJ, Eng C. Epigenetic PTEN silencing in malignant melanomas without PTEN mutation. Am J Pathol 2000;157:1123-8. [CrossRef] [PubMed]
  76. Zhou X, Hampel H, Thiele H, Gorlin RJ, Hennekam RC, Parisi M, Winter RM, Eng C. Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet 2001;358:210-1. [CrossRef] [PubMed]
  77. Smith JM, Kirk EP, Theodosopoulos G, Marshall GM, Walker J, Rogers M, Field M, Brereton JJ, Marsh DJ. Germline mutation of the tumour suppressor PTEN in Proteus syndrome. J Med Genet 2002;39:937-40. [CrossRef] [PubMed]
  78. Leslie NR, Downes CP. PTEN function : how normal cells control it and tumour cells lose it. Biochem J 2004;382:1-11. [CrossRef] [PubMed]
  79. Meili R, Sasaki AT, Firtel A. Rho rocks PTEN. Nat Cell Biol 2005;7:334-5. [CrossRef] [PubMed]
  80. Hartmann LC, Schaid DJ, Woods JE, Crotty TP, Myers JL, Arnold PG, Petty PM, Sellers TA, Johnson JL, McDonnell SK, Frost MH, Jenkins RB. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med 1999;340:77-84. [CrossRef] [PubMed]
  81. Kuffer R, Rougier M, Laugier P, Fiore-Donno G. Maladie de Cowden. Observation de deux familles suisses. Rev Stomatol Chir Maxillofac 1979;80:246-56.
  82. Perriard J, Saurat J-H, Harms M. An overlap of Cowden’s disease and Bannayan-Riley-Ruvalcaba syndrome in the same family. J Am Acad Dermatol 2000;42:348-50. [CrossRef] [PubMed]
  83. Chaudhry SI, Shirlaw PJ, Morgan PR, Challacombe SJ. Cowden’s syndrome (multiple hamartoma and neoplasia syndrome) : diagnostic dilemmas in three cases. Oral Dis 2000;6:248-52. [CrossRef] [PubMed]
  84. Hildenbrand C, Burgdorf WH, Lautenschlager S. Cowden syndrome-diagnostic skin signs. Dermatology 2001;202:362-6. [CrossRef] [PubMed]
  85. Riegert-Johnson DL, Gleeson FC, Roberts M, Tholen K, Youngborg L, Bullock M, Boardman LA. Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. Hered Cancer Clin Pract 2010;17:1-8.

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