A novel PTEN mutation in cowden syndrome is associated with a mixed degenerative-erosive arthritic process: Potential molecular pathogenic mechanisms [3]

American Journal of Medical Genetics, Part A

Volumn 143, Issue 13, 2007, Pages 1522-1527

  Pinzone, Joseph J ^a,b,f   Eng, Charis ^c,d   Paik, Julie ^e   Brindle, Kathleen A ^e   Ringel, Matthew D ^a,b   Katz, James D ^e  

^a THE OHIO STATE UNIVERSITY WEXNER MEDICAL CENTER   (United States)

^b OHIO STATE UNIVERSITY   (United States)

^c TAUSSIG CANCER INSTITUTE   (United States)

^d CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e GEORGE WASHINGTON UNIVERSITY MEDICAL CENTER   (United States)

^f OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; VASCULOTROPIN;

ADULT; ANGIOGENESIS; CASE REPORT; COWDEN SYNDROME; FAMILY HISTORY; FEMALE; GENE MUTATION; GENOTYPE; HETEROTOPIC OSSIFICATION; HUMAN; KERATOSIS; LETTER; OSTEOARTHRITIS; PAPILLOMA; PATHOGENESIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SEBACEOUS CYST;

ARTHRITIS; FEMALE; GERM-LINE MUTATION; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; MIDDLE AGED; PTEN PHOSPHOHYDROLASE; SEQUENCE DELETION;

EID: 34447338575     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31786     Document Type: Letter

References (29)

1. Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN, Miles JH, Wang CH, Stratton R, Pilarski R, Eng C. 2005. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumor suppressor gene mutations. J Med Genet 42:318-321.
2. Di Cristofano A, Pesce B, Cordon-Cardo C, Pandolfi PP. 1998. Pten is essential for embryonic development and tumour suppression. Nat Genet 19:348-355.
3. Eng C. 2000. Will the real Cowden syndrome please stand up: Revised diagnostic criteria. J Med Genet 37:828-830.
4. Eng C. 2003. PTEN: One Gene, many syndromes. Hum Mut 22:183-198.
5. Fackenthal JD, Marsh DJ, Richardson A-L, Cummings SA, Eng C, Robinson BG, Olopade OI. 2001. Male breast cancer in Cowden syndrome patients with germline PTEN mutations. J Med Genet 38:159-164.
6. Giatromanolaki A, Sivridis E, Maltezos E, Athanassou N, Papazoglou D, Gatter KC, Haris AL, Koukourakis MI. 2003. Upregulated hypoxia inducible factor-1α and -2α pathway in rheumatoid arthritis and osteoarthritis. Arthritis Res 5:R193-R201.
7. Gimm HO, Attié-Bitach T, Lees JA, Vekemans M, Eng C. 2000. Expression of the PTEN tumor suppressor protein during human development. Hum Mol Genet 9:1633-1639.
8. Jamis-Dow CA, Turner J, Biesecker LG, Choyke PL. 2004. Radiologic manifestation of Proteus syndrome. RadioGraphics 24:1051-1068.
9. Kennedy SG, Kandel ES, Cross TK, Hay N. 1999. Akt/protein kinase B inhibits cell death by preventing the release of cytochrome c from mitochondria. Mol Cell Biol 19:5800-5 810.
10. Kim SJ, Ju JW, Oh CD, Yoon YM, Song WK, Kim JH, Yoo YJ, Bang OS, Kang SS, Chun JS. 2002. ERK-1/2 and p38 kinase oppositely regulate nitric oxide-induced apoptosis of chondrocytes in association with p53, caspase-3, and differentiation status. J Biol Chem 277:1332-1339.
11. Kishimoto H, Hamada K, Saunders M, Backman S, Sasaki T, Nakano T, Mak TW, Suzuki A. 2003. Physiological functions of Pten in mouse tissues. Cell Struct Funct 28:11-21.
12. Li J, Yen C, Liaw D, Podsypanina K, Bose S, Wang SI, Puc J, Miliaresis C, Rodgers L, McCombie R, Bigner SH, Giovanella BC, Ittmann M, Tycko B, Hibshoosh H, Wigler MH, Parsons R. 1997. PTEN, a Putative Protein Tyrosine Phosphatase Gene Mutated in Human Brain. Breast, and Prostate Cancer. Science 275:1943-1947.
13. Lloyd KM, Dennis M. 1963. Cowden's disease: A possible new symptom complex with multiple system involvement. Ann Intern Med 58:136-1142.
14. Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PLM, Zheng Z, Liaw D, Caron S, Duboue B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Rearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C, et al. 1998. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 7:507-515.
15. 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 Jr, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C, et al. 1999. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 8:1461-1472.
16. Merks JH, de Vries LS, Zhou XP, Nikkels P, Barth PG, Eng C, Hennekam RC. 2003. PTEN hamartoma tumor syndrome: Variability of an entity. J Med Genet 40:e111.
17. Nelen MR, van Staveren CG, Peeters EAJ, Ben Hassel M, Gorlin RJ, Hamm H, Lindboe CF, Fryns JP, Sijmons RH, Woods DG, Mariam EC, Padberg GW, Kremer H. 1997. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet 6:1383-1387.
18. Nelen MR, Kremer H, Konings IBM, Schoute F, van Essen AJ, Koch R, Woods CG, Fryns JP, Hamel B, Hoefsloot F, Peeters EA, Padberg GW. 1999. Novel PTEN mutations in patients with Cowden disease: Absence of clear genotype-phenotype correlations. Eur J Hum Genet 7:267-273.
19. Pap T, Franz JK, Hummel KM, Jeisy E, Gay R, Gay S. 2000. Activation of synovial fibroblasts in rheumatoid arthritis: Lack of expression of the tumour suppressor PTEN at sites of invasive growth and destruction. Arthritis Res 2:59-64.
20. Perlman H, Pagliari LJ, Volin MV. 2001. Regulation of apoptosis and cell cycle activity in rheumatoid arthritis. Curr Mol Med 1:597-608.
21. Prabhu SS, Aldape KD, Bruner JM, Weinberg JS. 2004. Cowden disease with Lhermitte-Duclos disease: Case report. Can J Neurol Sci 31:542-549.
22. Reardon W, Zhou XP, 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 Genet 38:820-823.
23. Robinson S, Cohen A. 2000. Cowden disease and Lhermitte-Duclos Disease: Characterization of a new phakomatosis. Neurosurgery 46:371-383.
24. Schreibman IR, Baker M, Amos C, McGarrity TJ. 2005. The hamartomatous polyposis syndromes. Am J Gastroenterol 100:476-490.
25. Stambolic V, Suzuki A, de la Pompa JL, Brothers GM, Mirtsos C, Sasaki T, Ruland J, Penninger JM, Siderovski DP, Mak TW. 1998. Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN. Cell 95:29-39.
26. Tas SW, Remans PHJ, Reedquist KA, Tak PP. 2005. Signal transduction pathways and transcription factors as therapeutic targets in inflammatory disease: Towards innovative antirheumatic therapy. Curr Pharm Des 11:581-611.
27. 1 arrest followed by cell death. Cancer Res 59:5808-5814.
28. Zhang HG, Wang Y, Xie JF, Liang X, Liu D, Yang P, Hsu HC, Ray RB, Mountz JD. 2001. Regulation of tumor necrosis-α-mediated apoptosis in rheumatoid arthritis synovial fibroblasts by the protein kinase Akt. Arthritis Rheum 44:1555-1567.
29. Zhou XP, Waite K, 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. 2003. 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 73:404-411.