PI3K/Akt pathway mutations in retinoblastoma.
作者： Yoram Cohen , Efrat Merhavi-Shoham , Bat Chen R. Avraham-Lubin , Michael Savetsky , Shahar Frenkel
DOI: 10.1167/IOVS.09-3617
关键词:
摘要: PURPOSE. Many malignancies are known to be associated with abnormal activation of the PI3K-AKT pathway. Recently, a somatic mutation in AKT1 gene (E17K) was identified small proportion human tumors. This activated by means membrane recruitment and stimulated downstream signaling. study designed analyze mutations retinoblastoma gain insights into role pathway plays development this tumor. METHODS. Twenty-four samples from children were analyzed for AKT1, PTEN K-RAS genes, using chip-based matrix-assisted laser desorption-time-of-flight (NLkLDI-TOF) mass spectrometer. Mutations PIK3CA 16 direct sequencing. RESULTS. These results show that E17KlAKT1 not detected 24 analyzed. two samples. There no any other genes array system. On sequencing gene, one sample showed function exon 9. In another sample, genetic polymorphism unknown significance (rs17849079) 20. CONCLUSIONS. Although is dysregulated retinoblastoma, low frequency oncogenic PIK3CA, suggests different activating mechanism.
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sci-hub.se 参考文章(22)
Lee Wh, Bookstein R, Molecular genetics of the retinoblastoma suppressor gene. Critical Reviews in Oncogenesis. ,vol. 2, pp. 211- 227 ,(1991)
Laleh Shayesteh, Yiling Lu, Wen-Lin Kuo, Russell Baldocchi, Tony Godfrey, Colin Collins, Daniel Pinkel, Bethan Powell, Gordon B. Mills, Joe W. Gray, PIK3CA is implicated as an oncogene in ovarian cancer Nature Genetics. ,vol. 21, pp. 99- 102 ,(1999) , 10.1038/5042
Guojun Wu, Mingzhao Xing, Elizabeth Mambo, Xin Huang, Junwei Liu, Zhongmin Guo, Aditi Chatterjee, David Goldenberg, Susanne M Gollin, Saraswati Sukumar, Barry Trink, David Sidransky, Somatic mutation and gain of copy number of PIK3CA in human breast cancer. Breast Cancer Research. ,vol. 7, pp. 1- 8 ,(2005) , 10.1186/BCR1262
B Karakas, K E Bachman, B H Park, Mutation of the PIK3CA oncogene in human cancers. British Journal of Cancer. ,vol. 94, pp. 455- 459 ,(2006) , 10.1038/SJ.BJC.6602970
Raoul Tibes, Steven M. Kornblau, Yihua Qiu, Spyro M. Mousses, Christiane Robbins, Tracy Moses, John D. Carpten, PI3K/AKT pathway activation in acute myeloid leukaemias is not associated with AKT1 pleckstrin homology domain mutation. British Journal of Haematology. ,vol. 140, pp. 344- 347 ,(2008) , 10.1111/J.1365-2141.2007.06920.X
Sharon L Campbell, Roya Khosravi-Far, Kent L Rossman, Geoffrey J Clark, Channing J Der, Increasing complexity of Ras signaling Oncogene. ,vol. 17, pp. 1395- 1413 ,(1998) , 10.1038/SJ.ONC.1202174
John D. Carpten, Andrew L. Faber, Candice Horn, Gregory P. Donoho, Stephen L. Briggs, Christiane M. Robbins, Galen Hostetter, Sophie Boguslawski, Tracy Y. Moses, Stephanie Savage, Mark Uhlik, Aimin Lin, Jian Du, Yue-Wei Qian, Douglas J. Zeckner, Greg Tucker-Kellogg, Jeffrey Touchman, Ketan Patel, Spyro Mousses, Michael Bittner, Richard Schevitz, Mei-Huei T. Lai, Kerry L. Blanchard, James E. Thomas, A transforming mutation in the pleckstrin homology domain of AKT1 in cancer Nature. ,vol. 448, pp. 439- 444 ,(2007) , 10.1038/NATURE05933
W. Lee, R. Bookstein, F. Hong, L. Young, J. Shew, E. Lee, Human retinoblastoma susceptibility gene: cloning, identification, and sequence Science. ,vol. 235, pp. 1394- 1399 ,(1987) , 10.1126/SCIENCE.3823889
Sanjukta Chakraborty, Sonal Khare, Syril Kumar Dorairaj, Venkatesh C. Prabhakaran, D. Ravi Prakash, Arun Kumar, Identification of genes associated with tumorigenesis of retinoblastoma by microarray analysis. Genomics. ,vol. 90, pp. 344- 353 ,(2007) , 10.1016/J.YGENO.2007.05.002
Guojun Wu, Elizabeth Mambo, Zhongmin Guo, Shuiying Hu, Xin Huang, Susanne M. Gollin, Barry Trink, Paul W. Ladenson, David Sidransky, Mingzhao Xing, Uncommon Mutation, but Common Amplifications, of the PIK3CA Gene in Thyroid Tumors The Journal of Clinical Endocrinology and Metabolism. ,vol. 90, pp. 4688- 4693 ,(2005) , 10.1210/JC.2004-2281