Abstract
Objective
This study was to investigate whether PTEN mutations play a role in the carcinogenesis of soft tissue sarcomas (STS).
Methods
Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) was used to amplify 4 exons of PTEN and to analyze the conformation polymorphism, then DNA sequencing methods was used to detect point mutation of PTEN gene four exons of abnormal single strand conformation in soft tissue sarcomas.
Results
Two of 86 cases showed 130th condon G→A missense mutation in the exon 8 of PTEN gene, and this mutation made Arg to change to Gln in PTEN protein structure 334th condon A→T missense mutation in the exon 8 of PTEN gene, and this mutation made Asn to change to Lys in PTEN protein structure.
Conclusion
These data indicated the existence of PTEN mutation in soft tissue sarcomas, but PTEN gene mutation rate is very low. PTEN mutation may plays an less important role in the development and malignant transformation of soft tissue sarcomas.
Similar content being viewed by others
References
Fletcher CDM, Unni KK, Mertens F, et al. World Health Organization classification of tumors: pathology and genetics oftu mors of soft tissue and bone. Lyon: IARC Press, 2002.
Li J, Yen C, Liaw D, et al. PTEN, a putative protein tyrosinephosphatase gene mutated in human brain, breast, and prostate cancer. Science, 1997, 275: 1943–1947.
Derré J, Lagacé R, Nicolas A, et al. 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: 211–215.
Mandahl N, Fletcher CD, Dal Cin P, et al. 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.
Joseph S, David W R. Molecular cloning: a laboratory manual, 3rd ed. New York: Cold Spring Harbor Laboratory Press, 2001. 461–485.
Risinger JI, Hayes AK, Berchunk A, et al. PTEN/MMAC1 mutations in endometrial cancers. Cancer Res, 1997, 57: 4736–4738.
Guo CY, Xu XF, Wu JT, et al. PCR-SSCP-DNA sequencing method in detecting PTEN gene mutation and its significance in human gastric cancer. World J Gastroenterol, 2008, 14: 3804–3811.
Myers M P, Stolarov J P, Eng C, et al. PTEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase. Proc Natl Acad Sci USA, 1997, 94: 9052–9057.
Di Cristofano A, Pandolfi PP. The multiple role of PTEN in tumor suppression. Cell, 2000, 100: 387–390.
Saito T, Oda Y, Kawaguchik T, et al. PTEN/MMAC1 gene mutation is a rare event in soft tissue sarcomas without specific balanced translocations. Int J Cancer, 2003, 104: 175–178.
Zhu Y, Wang DY, Sugimura H, et al. Mutation analysis of tumor suppressor gene PTEN in bone and soft tissue tumors. Natl Med J Chin (Chinese), 2001, 81: 715–718.
Sjöling A, Samuelson E, Adamovic T, et al. Recurrent allelic imbalance at the rat Pten locus in DMBA-induced fibrosarcomas. Genes Chromosomes Cancer, 2003, 36: 70–79.
Author information
Authors and Affiliations
Corresponding author
Additional information
Supported by a grant from the National Natural Science Foundation of China (No. 30560169).
Rights and permissions
About this article
Cite this article
Yin, L., chen, Y., Li, W. et al. Mutational analysis of the PTEN gene in soft tissue sarcomas. Chin. -Ger. J. Clin. Oncol. 9, 422–425 (2010). https://doi.org/10.1007/s10330-010-0647-9
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10330-010-0647-9