PTEN hamartomatous tumor syndromes

Russell and Rubinstein's Pathology of Tumors of the Nervous System.

Volumn , Issue , 2006, Pages 971-977

  Ballas, Marc ^a   Sathornsumetee, Sith ^b   Rich, Jeremy N ^c   Dennis, Phillip A ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84876250747     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter

References (58)

1. Abel, T. W., Baker S. J., Fraser, M. M. et al. (2005) Lhermitte-Duclos disease: a report of 31 cases with immunohistochemical analysis of the PTEN/AKT/mTOR pathway. J Neuropathol Exp Neurol 64: 341-9.
2. Backman, S. A., Stambolic, V., Suzuki, A. et al. (2001) Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease. Nat Genet 29: 396-403.
3. Bannayan, G. A. (1971) Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome. Arch Pathol92: 1-5.
4. Brownstein, M. H., Wolf, M. And Bikowski, J. B. (1978) Cowden's disease: a cutaneous marker of breast cancer. Cancer 41: 2393-8.
5. Butler, M. G., Dasouki, M. J., Zhou, X. P. et al. (2005) Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet 42: 318-21.
6. Cantley, L. C. And Neel, B. G. (1999) New insights into tumor suppression: PTEN suppresses tumor formation by restraining the phosphoinositide 3-kinase/AKT pathway. Proc Natl Acad Sci USA96: 4240-5.
7. Capone Mori, A., Hoeltzenbein, M., Poetsch, M., Schneider, J. F., Brandner, S. And Boltshauser, E. (2003) Lhermitte-Duclos disease in 3 children: a clinical long-term observation. Neuropediatrics34: 30-5.
8. Cohen, M. M., Jr (2005) Proteus syndrome: an update. Am J Med Genet CSemin Med Genet 137: 38-52.
9. Cohen, M. M., Jr and Hayden, P. W. (1979) A newly recognized hamartomatous syndrome. Birth Defects OrigArticSer 15(5B): 291-6.
10. Cohen, M. M., Jr, Turner, J. T., and Biesecker, L. G. (2003) Proteus syndrome: misdiagnosis with PTEN mutations. Am J Med Genet A122: 323-4.
11. Davies, M. A., Lu, Y., Sano, T. et al. (1998) Adenoviral transgene expression of MMAC/PTEN in human glioma cells inhibits Akt activation and induces anoikis. Cancer Res 58: 5285-90.
12. Davies, M. A., Kim, S. J., Parikh, N. U., Dong, Z., Bucana, C. D., and Gallick, G. E. (2002) Adenoviral-mediated expression of MMAC/PTEN inhibits proliferation and metastasis of human prostate cancer cells. Clin Cancer Res 8: 1904-14.
13. Di Cristofano, A., Pesce, B., Cordon-Cardo, C., and Pandolfi, P. P. (1998) Pten is essential for embryonic development and tumour suppression. Nat Genet 19: 348-55.
14. Eng, C. (2000) Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 37(11): 828-30.
15. Eng, C. (2003) PTEN: one gene, many syndromes. Hum Mutat 22: 183-98.
16. Faisal Ahmed, S., Marsh, D. J., Weremowicz, S., Morton, C. C., Williams, D. M., and Eng, C. (1999) Balanced translocation of 10q and13q, including the PTEN gene, in a boy with a human chorionic gonadotropin-secreting tumor and the Bannayan-Riley-Ruvalcaba syndrome. J Clin Endocrinol Metab 84: 4665-70.
17. Fombonne, E., Roge, B., Claverie, J., Courty, S. And Fremolle, J. (1999) Microcephaly and macrocephaly in autism. J Autism Dev Disord29: 113-19.
18. Furnari, F. B., Lin, H., Huang, H. S. And Cavenee, W. K. (1997) Growth suppression of glioma cells by PTEN requires a functional phosphatase catalytic domain. Proc Natl Acad Sci USA 94: 12479-84.
19. Goffin, A., Hoefsloot, L. H., Bosgoed, E., Swillen, A., and Fryns, J. P. (2001) PTEN mutation in a family with Cowden syndrome and autism. Am J Med Genet 105: 521-4.
20. Gorlin, R. J., Cohen, M. M. Jr, Condon, L. M., and Burke, B. A. (1992) Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet 44: 307-14.
21. Groszer, M., Erickson, R., Scripture-Adams, D. D. et al. (2001) Negative regulation of neural stem/progenitor cell proliferation by the Pten tumor suppressor gene in vivo. Science 294: 2186-9.
22. Hanssen, A. M. And J. P. Fryns (1995) Cowden syndrome. J Med Genet32: 117-19.
23. Kim, D. K., Myung, S. J., Yang, S. K. et al. (2005) Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome. Dis Colon Rectum 48: 1714-22.
24. Kwon, C. H., Zhu, X., Zhang, J. et al. (2001) Pten regulates neuronal soma size: a mouse model of Lhermltte-Duclos disease. Nat Genet 29: 404-11.
25. Lachyankar, M. B., Sultana, N., Schonhoff, C. M. et al. (2000) A role for nuclear PTEN in neuronal differentiation. J Neurosci20: 1404-13.
26. Li, J., Yen, C., Liaw, D. et al. (1997) PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science 275:1943-7.
27. Li, L., Liu, F., Turner, T. K. et al. (2002) PTEN in neural precursor cells: regulation of migration, apoptosis, and proliferation. Mol Cell Neurosci 20: 21-9.
28. Liaw, D., Marsh, D. J., Li, J., et al. (1997) Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 16: 64-7.
29. Lloyd, K. M. II and Dennis, M. (1963) Cowden's disease. A possible new symptom complex with multiple system involvement. Ann Intern Med 58: 136-42.
30. Longy, M. And Lacombe, D. (1996) Cowden disease. Report of a family and review. Ann Genet39: 35-42.
31. Luo, J., Sobkiw, C. L., Logsdon, N. M. et al. (2005) Modulation of epithelial neoplasia and lymphoid hyperplasia in PTEN +/— mice by the p85 regulatory subunits of phosphoinositide 3-kinase. Proc Natl Acad Sci USA 102: 10238-43.
32. Marino, S., Krimpenfort, P., Leung, C. et al. (2002) PTEN is essential for cell migration but not for fate determination and tumorigenesis in the cerebellum. Development 129: 3513-22.
33. Marsh, D. J., Coulon, V., Lunetta, K. L. et al. (1998) Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Human Mol Genet 7: 507-15.
34. Marsh, D. J., Dahia, P. L., Zheng, Z. et al. (1997) Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat Genet16: 333-4.
35. Marsh, D. J., Kum, J. B., Lunetta, K. L. et al. (1999) PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Human Mol Genet 8: 1461-72.
36. Nelen, M. R., Padberg, G. W., Peeters, E. A. et al. (1996) Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet 13: 114-16.
37. Neshat, M. S., Mellinghoff, I. K., Tran, C. et al. (2001) Enhanced sensitivity of PTEN-deficient tumors to inhibition of FRAP/mTOR. Proc Natl Acad Sci USA 98: 10314-19.
38. Reardon, W., Zhou, X. P. And Eng, C. (2001) A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. J Med Genet38: 820-3.
39. Ruvalcaba, R. H., Myhre, S., and Smith, D. W. (1980) Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia. Clin Genet 18: 413-16.
40. Schrager, C. A., Schneider, D., Gruener, A. C., Tsou, H. C., and Peacocke, M. (1998) Clinical and pathological features of breast disease in Cowden's syndrome: an underrecognized syndrome with an increased risk of breast cancer. Hum Pathol 29: 47-53.
41. Shi, Y., Gera, J., Hu, L., Hsu, J. H., Bookstein, R., Li, W. And Lichtenstein, A. (2002) Enhanced sensitivity of multiple myeloma cells containing PTEN mutations to CCI-779. Cancer Res 62: 5027-34.
42. Simpson, L. And Parsons, R. (2001) PTEN: life as a tumor suppressor. Exp Cell Res 264: 29-41.
43. Smith, J. M., Kirk, E. P., Marshall, G. M. et al. (2002) Germline mutation of the tumour suppressor PTEN in Proteus syndrome. J Med Genet 39: 937-40.
44. Stambolic, V., Suzuki, A., de la Pompa, J. L. et al. (1998) Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN. Cell 95: 29-39.
45. Starink, T. M., van der Veen, J. P., Arwert, F. et al. (1986) The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet29: 222-33.
46. Suzuki, A., de la Pompa, J. L., Stambolic, V. et al. (1998) High cancer susceptibility and embryonic lethality associated with mutation of the PTEN tumor suppressor gene in mice. Curr Biol 8: 1169-78.
47. Turner, J. T., Cohen, M. M. Jr, and Biesecker, L. G. (2004) Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. Am J Med Genet A 130: 111-22.
48. Vantomme, N., Van Calenbergh, F., Goffin, J., Sciot, R., Demaerel, P., and Plets, C. (2001) Lhermitte-Duclos disease is a clinical manifestation of Cowden's syndrome. Surg Neurol 56: 201-5.
49. Vivanco, I. And Sawyers, C. L. (2002) The phosphatidylinositol 3-Kinase AKT pathway in human cancer. Nat Rev Cancer 2: 489-501.
50. Weng, L., Brown, J., and Eng, C. (2001) PTEN induces apoptosis and cell cycle arrest through phosphoinositol-3-kinase/Akt-dependent and-independent pathways. Human Mol Genet 10: 237-42.
51. Wiedemann, H. R., Burgio, G. R., Aldenhoff, P., Kunze, J., Kaufmann, H. J. And Schirg, E. (1983) The Proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections. Eur J Pediatr140: 5-12.
52. Zhou, X. P., Marsh, D. J., Hampel, H., Mulliken, J. B., Gimm, O. And Eng, C. (2000) Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. Human Mol Genet 9: 765-8.
53. Zhou, X., Hampel, H., Thiele, H., et al. (2001) Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet 358: 210-11.
54. Zhou, X. P., Loukola, A., Salovaara, R. et al. (2002) PTEN mutational spectra, expression levels, and subcellular localization in microsatellite stable and unstable colorectal cancers. Am J Pathol161: 439-47.
55. Zhou, X. P., Marsh, D. J., Morrison, C. D. et al. (2003a) Germ line inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. Am J Human Genet 73: 1191-8.
56. Zhou, X. P., Waite, K. A., Pilarski, R. et al. (2003b) 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 Human Genet 73: 404-11.
57. Zonana, J., Rimoin, D. L., Davis, D. C. et al. (1976) Macrocephaly with multiple lipomas and hemangiomas. J Pediatr 89: 600-3.
58. Zori, R. T., Marsh, D. J., Graham, G. E., Marliss, E. B., and Eng, C. (1998) Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet 80: 399-402.