PTEN/MMAC1 gene mutation is a rare event in soft tissue sarcomas without specific balanced translocations

International Journal of Cancer

Volumn 104, Issue 2, 2003, Pages 175-178

  Saito, Tsuyoshi ^a   Oda, Yoshinao ^a   Kawaguchi, Ken ichi ^a   Takahira, Tomonari ^a   Yamamoto, Hidetaka ^a   Tamiya, Sadafumi ^a   Tanaka, Kazuhiro ^a   Matsuda, Shuichi ^a   Sakamoto, Akio ^a   Iwamoto, Yukihide ^a   Tsuneyoshi, Masazumi ^a  

^a KYUSHU UNIVERSITY   (Japan)

Author keywords

Mutation; PTEN; Soft tissue sarcoma

Indexed keywords

ARTICLE; CARCINOGENESIS; CHROMOSOME 10Q; CHROMOSOME LOSS; CONTROLLED STUDY; GENE DELETION; GENE MUTATION; GENE TRANSLOCATION; HUMAN; HUMAN TISSUE; LEIOMYOSARCOMA; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SOFT TISSUE SARCOMA; TUMOR SUPPRESSOR GENE; TUMOR SUPPRESSOR GENE NMAC1; TUMOR SUPPRESSOR GENE PTEN;

BASE SEQUENCE; GENE FREQUENCY; HUMANS; INCIDENCE; MUTATION; PHOSPHORIC MONOESTER HYDROLASES; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PTEN PHOSPHOHYDROLASE; SARCOMA; TRANSLOCATION, GENETIC; TUMOR SUPPRESSOR PROTEINS;

EID: 0037457386     PISSN: 00207136     EISSN: None     Source Type: Journal    
DOI: 10.1002/ijc.10918     Document Type: Article

References (29)

1. El-Rifai W, Sarlomo-Rikala M, Knuutila S, Miettinen M. DNA copy number change in development and progression in leiomyosarcoma of soft tissues. Am J Pathol 1998;153:985-90.
2. Otano-Joos M, Mechtersheimer G, Ohl S, Wilgenbus KK, Scheurlen W, Lehnert T, Willeke F, Otto HF, Lichter P, Joos S. Detection of chromosomal imbalances in leiomyosarcoma by comparative genomic hybridization and interphase cytogenetics. Cytogenet Cell Genet 2000;90:86-92.
3. Mandahl N, Fletcher CDM, Dal Cin P, Wever ID, Mertens F, Mitelman F, Rosai J, Rydholm A, Sciot R, Tallini G, Van den Berghe H, Vanni R, Willen H. Comparative cytogenetic study of spindle cell and pleomorphic leiomyosarcomas of soft tissues: a report from the CHAMP study group. Cancer Genet Cytogenet 2000;116:66-73.
4. Derre J, Lagace R, Nicolas A, Mairal A, Chibon F, Coindre J-M, Terrier P, Sastre X, Aurias A. Leiomyosarcomas and most malignant fibrous histiocytomas share very similar comparative genomic hybridization imbalances: an analysis of a series of 27 leiomyosarcomas. Lab Invest 2001;81:211-5.
5. Chibon F, Mairal A, Freneaux P, Terrier P, Coindre J-M, Sastre X, Aurias A. The RB1 gene is the target of chromosome 13 deletions in malignant fibrous histiocytoma. Cancer Res 2000;60:6339-45.
6. Plaat BE, Molenaar WM, Mastik MF, Hoekstra HJ, te Meerman GJ, van den Berg E. Computer-assisted cytogenetic analysis of 51 malignant peripheral-nerve-sheath tumors: sporadic vs. neurofibromatosis-type-1-associated malignant schwannomas. Int J Cancer 1999;83: 171-8.
7. Parente F, Grosgeorge J, Coindre J-M, Terrier P, Vilain O, Turc-Carel C. Comparative genomic hybridization reveals novel chromosome deletions in 90 primary soft tissue tumors. Cancer Genet Cytogenet 1999; 115:89-95.
8. Steck PA, Pershouse MA, Jasser SA, Yung WKA, Lin H, Ligon AH, Langford LA, Baumgard ML, Hattier T, Davis T, Frye C, Hu R, et al. Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nat Genet 1997;15:356-62.
9. Liaw D, Marsh DJ, Li J, Dahia PL, 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.
10. Marsh DJ, Dahia PL, Zheng Z, Liaw D, Parsons R, Gorlin RJ, Eng C. Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat Genet 1997;16:333-4.
11. Ali IU, Schriml LM, Dean M. Mutational spectra of PTEN/MMAC1 gene: a tumor suppressor with lipid phosphatase activity. J Natl Cancer Inst 1999;91:1922-32.
12. Minaguchi T, Yoshikawa H, Oda K, Ishino T, Yasugi T, Onda T, Nakagawa S, Matsumoto K, Kawana K, Taketani Y. PTEN mutation located only outside exons 5, 6, and 7 is an independent predictor of favorable survival in endometrial carcinomas. Clin Cancer Res 2001; 7:2636-42.
13. Risinger JI, Hayes AK, Berchuck A, Barrett JC. PTEN/MMAC1 mutations in endometrial cancers. Cancer Res 1997;57:4736-8.
14. Rasheed BK, Stenzel TT, McLendon RE, Parsons R, Friedman AH, Friedman HS, Bigner SH. PTEN gene mutations are seen in high-grade but not in low-grade gliomas. Cancer Res 1997;57:4187-90.
15. Cairns P, Okami K, Halachmi S, Halachmi N, Esteller M, Herman JG, Jen J, Isaacs WB, Bova GS, Sidransky D. Frequent inactivation of PTEN/MMAC1 in primary prostate cancer. Cancer Res 1997;57: 4997-5000.
16. Celebi JT., Shendrik I, Silvers DN, Peacocke M. Identification of PTEN mutations in metastatic melanoma specimens. J Med Genet 2000;37:653-7.
17. Di Cristofano A, Pandolfi PP. The multiple roles of PTEN in tumor suppression. Cell 2000;100:387-90.
18. Saito T, Oda Y, Kawaguchi K, Tanaka K, Matsuda S, Tamiya S, Iwamoto Y, Tsuneyoshi M. Possible association between higher β-catenin mRNA expression and mutated β-catenin in sporadic desmoid tumors: real-time semiquantitative assay by TaqMan polymerase chain reaction. Lab Invest 2002;82:97-103.
19. Liu J, Babaian DC, Liebert M, Steck PA, Kagan J. Inactivation of MMAC1 in bladder transitional-cell carcinoma cell lines and specimens. Mol Carcinog 2000;29:143-50.
20. Wechsler DS, Shelly CA, Dang CV. Genomic organization of human MXII, a putative tumor suppressor gene. Genomics 1996;32:466-70.
21. Raskind WH, Conrad EU, Matsushita M. Frequent loss of heterozygosity for markers on chromosome arm 10q in chondrosarcomas. Genes Chrom Cancer 1996;16:138-43.
22. Lin C, Meitner PA, Terek RM. PTEN mutation is rare in chondrosarcoma. Diagn Mol Pathol 2002;11:22-6.
23. Knudson AG Jr, Hethcote HW, Brown BW. Mutation and childhood cancer: a probabilistic model for the incidence of retinoblastoma. Proc Natl Acad Sci USA 1975;72:5116-20.
24. Amant F, de la Rey M, Dorfling CM, van der Walt L, Dreyer G, Dreyer L, Vergote I, Lindeque BG, Van Rensburg EJ. PTEN mutations in uterine sarcomas. Gynecol Oncol 2002;85:165-9.
25. Lancaster JM, Risinger JI, Carney ME, Barrett JC, Berchuck A. Mutational analysis of the PTEN gene in human uterine sarcomas. Am J Obstet Gynecol 2001;184:1051-3.
26. Dunkel IJ, Gerald WL, Rosenfield NS, Strong EW, Abramson DH, Ghavimi F. Outcome of patients with a history of bilateral retinoblastoma treated for a second malignancy: The Memorial Sloan-Kettering experience. Med Pediatr Oncol 1998;30:59-62.
27. Miettinen MM, el-Rifai W, Sarlomo-Rikala M, Andersson LC, Knuutila S. Tumor size-related DNA copy number changes occur in solitary fibrous tumors but not in hemangiopericytomas. Mod Pathol 1997;10:1194-200.
28. 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.
29. Shu HK, Kim MM, Chen P, Furman F, Julin CM, Israel MA. The intrinsic radioresistance of glioblastoma-derived cell lines is associated with a failure of p53 to induce p21BAX expression. Proc Natl Acad Sci USA 1998;95:14453-8.