Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome

Journal of Medical Genetics

Volumn 41, Issue 5, 2004, Pages 323-326

  Pilarski, R ^a   Eng, C ^a,b,c  

^a OHIO STATE UNIVERSITY   (United States)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

BREAST CANCER; BREAST EXAMINATION; CANCER RISK; CANCER SCREENING; CONGENITAL TUMOR; COWDEN SYNDROME; GENE MUTATION; GERM LAYER; GERM LINE; HUMAN; MULTIPLE CANCER; NOTE; PRIORITY JOURNAL; THYROID CANCER; TUMOR SUPPRESSOR GENE; URINALYSIS;

EID: 2342458960     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.018036     Document Type: Note

References (27)

1. Eng C. Will the real Cowden syndronm please stand up: revised diagnostic criteria. J Med Genet 2000;37:828-30.
2. Starink TM, van der Veen JPW, Arwert F, de Waal LP, de Lange GG, Gille JJP, Eriksson AW. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 1986;29:222-33.
3. Nelen MR, van Staveren CG, Peeters EAJ, Ben Hassel M, Gorlin RJ, Hamm H, Undboe CF, Fryns J-P, 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.
4. Nelen MK, Kremer H, Konings IBM, Schoute F, van Essen AJ, Koch R, Woods CG, Fryns J-P, Hamel B, Hoefsloot LH, Peeters EAJ, Padberg GW. Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet 1999;7:267-73.
5. Brownstein MH, Wolf M, Bilowski JB. Cowden's disease: o cutaneous marker of breast cancer. Cancer 1978;41:2393-8.
6. Liaw D, Marsh DJ, Li J, Dahio PLM, Wong SI, Zheng Z, Bose S, Call KM, Tsou HC, Peacocke M, Eng C, Parsons R. Germline mutations of the PTEN gene in Cowden disease, on inherited breast and thyroid cancer syndrome. Nat Genet 1997;16:64-7.
7. Marsh DJ, Caulon V, Lunetta KL, Rocca-Serra P, Dahia PLM, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson A-L, Bonnetblanc J-M, Bressieux J-M, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker J-P, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, LePrat F, Odent S, Toulouse C, Olopade OI, Sobol H, Tishler S, Woods CG, Robinson BG, Weber HC, Parsons R, Peococke M, Longy M, Eng C. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamortoma syndromes with germline PTEN mutation. Hum Mol Genet 1998;7:507-15.
8. Nelen MR, Padberg GW, Peeters EAJ, Lin AY, van den Helm B, Fronts RR, Coulon V, Goldstein AM, van Reen MMM, Eastan 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.
9. Gorlin RJ, Cohen MM, Condon LM, Burke BA. Bonnayan-Riley-Ruvalcaba syndrome. Am J Med Genet 1992;44:307-14.
10. Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dazouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KA, Parisi M, Pober B, Romano C, Talmie JL, Trembath R, Winter RM, Zackai EH, Zari 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.
11. Tak Celebi J, Tsou HC, Chen FF, Zhang H, Ping XL, Lebwohl 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.
12. Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM, Viljoen DL, Cohen MM. Proteus syndrome: diagnostic criteria, differential diagnosis and patient evaluation. Am J Med Genet 1999;84:389-95.
13. Zhou XP, Hampel H, Thiele H, Gorlin RJ, Hennekam R, Parisi M, Winter RM, Eng C. Association of germline mutation in the PTEN tumour suppressor gene and a subset of Proteus and Proteus-like syndromes. Lancet 2001;358:210-1.
14. Smith JM, Kirk EPE, Theodosopoulos G, Marshall G, Walker J, Rogers M, Field M, Breretan JJ, Marsh DJ. Germline mutation of the tumour suppressor PTEN in Proteus syndrome. J Med Genet 2002;9:937-40.
15. Dasouki MJ, Ishmael H, Eng C. Macrocephaly, mocrosomia and autistic behavior due ta a de novo PTEN germline mutation. Am J Hum Genet 2001;69S:280 (Abstract 564).
16. Coffin A, Hoefsloot LH, Bosgoed E, Swillen A, Fryns J-P. PTEN mutation in a family with Cowden syndrome and autism. Am J Med Genet 2001;105:521-4.
17. Reardon W, Zhou XP, Eng C. A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation and features of VATER association. J Med Genet 2001;38:820-3.
18. Merks JHM, de Vries LS, Zhou XP, Nikkels P, Barth PG, Eng C, Hennekam RCM. PTEN homorlomo tumor syndrome: variability of an entity. J Med Genet 2003;40:e111.
19. Eng C, Murday V, Seal S, Mohammed S, Hodgson SV, Choudory MA, Fentiman IS, Ponder BAJ, Eeles RA. Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy? J Med Genet 1994;31:458-61.
20. Padberg GW, Schot JDL, Vielvoye GJ, Bots GTAM, de Beer FC. Lhermitte-Duclos disease and Cowden syndrome: a single phakomatosis. Ann Neurol 1991;29:517-23.
21. Zhou X-P, Marsh DJ, Morrison CD, Chaudhury AR, Maxwell M, Reifenberger G, Eng C. Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/ Akt pathway cause human Lhermitte-Duclos disease in adults. Am J Hum Genet 2003;73:1191-8.
22. Vantomme N, Van Calenbergh F, Goffin J, Sciot R, Demaerel P, C P. Lhermitte-Duclos disease is a clinical manifestation of Cowden's syndrome. Surg Neurol 2001;56:201-5.
23. Capone Mori A, Hoeltzenbein M, Poetsch M, Schneider J, Brandner S, Boltshauser E. Lhermitte-Duclos disease in 3 children: a clinical long-term observation. Neuropediatrics 2003;4:30-5.
24. Zhou X-P, 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, Massif NT, Eng C. Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation af the phosphoinositol-3-kinase/Akt pathway. Am J Hum Genet 2003;73:404-11.
25. Ahmed SF, Marsh DJ, Weremowicz S, Morton CC, Williams DM, Eng C. Balanced translocation of 10q and 13q, induding the PTEN gene, in a boy with an HCG-secreting tumor and the Bannayan-Riley-Ruvalcaba syndrome. J Clin Endocrinol Metab 1999;84:4665-70.
26. Delaticki MB, Danks A, Churchyard A, Xhou X-P, Eng C. De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and warmian bones. J Med Genet 2003;40:e92.
27. National Comprehensive Cancer Network. Guidelines for the detection, prevention and risk of cancer, genetics/familial high risk assessment - Cowden syndrome. http:// www.nccn.org/physician_gls/f_guidelines.html (Accessed 2003).