PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma.

作者: Fiamma Buttitta , Lara Felicioni , Fabio Barassi , Carla Martella , Diego Paolizzi

DOI: 10.1002/PATH.1908

关键词: Lobular carcinomaLymph nodeExonBreast carcinomaGene mutationBreast cancerPathologyProgesterone receptorMutationBiology

摘要: Mutations in the PIK3CA gene have recently been reported different human neoplasms, including breast cancer. This paper reports results of a systematic analysis mutations histological types carcinoma. One hundred and eighty invasive carcinomas, comprising 74 ductal, 56 lobular, 22 mucinous, 20 medullary, eight papillary, were selected on basis their type consecutive series 780 cancers. Exons 1-20 subjected to SSCP followed by direct sequencing. observed 46 (26%) 180 tumours examined: 23 (50%) located exon 9, 20. frequent lobular (46%), less ductal (22%), uncommon medullary (10%), mucinous (5%), papillary (12%) (p = 0.0002). 9 more carcinomas (30% cases) than other (less 5% 0.00014). No significant differences distribution There was no correlation between clinicopathological biological variables, age, tumour size, lymph node metastases, oestrogen receptor (ER) status, progesterone (PgR) p53 mutations, protein expression. The findings indicate that alterations are mainly present tumours, whereas types, known be associated with favourable prognosis, show very low incidence mutations.

参考文章(38)
Henry F. Frierson, Robert A. Wolber, Kenneth W. Berean, Douglas W. Franquemont, Michael J. Gaffey, James C. Boyd, David C. Wilbur, Interobserver reproducibility of the Nottingham modification of the Bloom and Richardson histologic grading scheme for infiltrating ductal carcinoma. American Journal of Clinical Pathology. ,vol. 103, pp. 195- 198 ,(1995) , 10.1093/AJCP/103.2.195
Yardena Samuels, Victor E. Velculescu, Oncogenic Mutations of PIK3CA in Human Cancers Cell Cycle. ,vol. 3, pp. 1221- 1224 ,(2004) , 10.4161/CC.3.10.1164
Do-Sun Byun, Kyucheol Cho, Byung-Kyu Ryu, Min-Goo Lee, Jae-Il Park, Kwon-Seok Chae, Hyo-Jong Kim, Sung-Gil Chi, Frequent monoallelic deletion of PTEN and its reciprocal associatioin with PIK3CA amplification in gastric carcinoma. International Journal of Cancer. ,vol. 104, pp. 318- 327 ,(2003) , 10.1002/IJC.10962
Anne-Lise Børresen-Dale, TP53 and breast cancer Human Mutation. ,vol. 21, pp. 292- 300 ,(2003) , 10.1002/HUMU.10174
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
G. Berx, A. M. Cleton-Jansen, F. Nollet, W. J. de Leeuw, M. van de Vijver, C. Cornelisse, F. van Roy, E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers. The EMBO Journal. ,vol. 14, pp. 6107- 6115 ,(1995) , 10.1002/J.1460-2075.1995.TB00301.X
Vivian Li, Chi Wong, Tsun Chan, Agnes Chan, Wei Zhao, Kent-Man Chu, Samuel So, Xin Chen, Siu Yuen, Suet Leung, None, Mutations of PIK3CA in gastric adenocarcinoma. BMC Cancer. ,vol. 5, pp. 29- 29 ,(2005) , 10.1186/1471-2407-5-29
Grazia Arpino, Valerie J Bardou, Gary M Clark, Richard M Elledge, Infiltrating lobular carcinoma of the breast: tumor characteristics and clinical outcome Breast Cancer Research. ,vol. 6, pp. 1- 8 ,(2004) , 10.1186/BCR767
Yen-Ying Ma, Sung-Jen Wei, Yu-Chen Lin, Jia-Chyi Lung, Ting-Chang Chang, Jacqueline Whang-Peng, Jacqueline M Liu, Deng-Mei Yang, Wen K Yang, Chen-Yang Shen, PIK3CA as an oncogene in cervical cancer Oncogene. ,vol. 19, pp. 2739- 2744 ,(2000) , 10.1038/SJ.ONC.1203597
Haixin Lei, Sara Sjöberg-Margolin, Sima Salahshor, Barbro Werelius, Eva Jandáková, Kari Hemminki, Annika Lindblom, Igor Vořechovský, CDH1 mutations are present in both ductal and lobular breast cancer, but promoter allelic variants show no detectable breast cancer risk. International Journal of Cancer. ,vol. 98, pp. 199- 204 ,(2002) , 10.1002/IJC.10176