PIK3CA mutation and histological type in breast carcinoma:: high frequency of mutations in lobular carcinoma
PIK3CA mutation and histological type in breast carcinoma:: high frequency of mutations in lobular carcinoma
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DOI：
10.1002/path.1908
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发表时间：
2006-02-01
影响因子：
7.3
通讯作者：
Marchetti, A
中科院分区：
文献类型：
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作者：
Buttitta, F;Felicioni, L;Marchetti, A
PIK3CA基因的突变最近在不同的人类肿瘤中被报道，包括乳腺癌。本文报道了不同组织学类型乳腺癌中PIK3CA突变的系统分析结果。180例浸润性乳腺癌，包括74例导管癌，56例小叶癌，22例粘液癌，20例髓样癌和8例乳头状癌，根据其组织学类型从连续的780例乳腺癌中选出。对PIK3CA基因外显子1-20进行SSCP分析，然后直接测序。180例肿瘤中有46例（26%）发生PIK3CA突变：23例（50%）突变位于外显子9,23例（50%）位于外显子20。突变常见于小叶肿瘤（46%），导管肿瘤较少（22%），髓质肿瘤（10%）、粘液瘤（5%）和乳头状肿瘤（12%）不常见（P = 0.0002）。外显子9突变在小叶癌（30%的病例）中比在其他组织学类型（不到5%的病例）中更常见（p = 0.00014）。外显子20的突变分布无显著差异。PIK3CA突变与年龄、肿瘤大小、淋巴结转移、雌激素受体（ER）状态、孕激素受体（PgR）状态、p53基因突变、p53蛋白表达等其他临床病理和生物学变量无显著相关性。研究结果表明，在浸润性乳腺癌中，PIK3CA突变主要存在于小叶和导管肿瘤中，而其他已知与良好预后相关的组织学类型显示PIK3CA突变的发生率非常低。版权所有(c) 2005大不列颠和爱尔兰病理学会。约翰·威利父子有限公司出版。
Mutations in the PIK3CA gene have recently been reported in different human neoplasms, including breast cancer. This paper reports the results of a systematic analysis of PIK3CA mutations in different histological types of breast carcinoma. One hundred and eighty invasive breast carcinomas, comprising 74 ductal, 56 lobular, 22 mucinous, 20 medullary, and eight papillary, were selected on the basis of their histological type in a consecutive series of 780 breast cancers. Exons 1-20 of the PIK3CA gene were subjected to SSCP analysis followed by direct sequencing. PIK3CA mutations were observed in 46 (26%) of the 180 tumours examined: 23 (50%) mutations were located in exon 9, and 23 (50%) in exon 20. Mutations were frequent in lobular (46%), less frequent in ductal (22%), and uncommon in medullary (10%), mucinous (5%), and papillary tumours (12%) (P = 0.0002). Mutations in exon 9 were more frequent in lobular carcinomas (30% of cases) than in the other histological types (less than 5% of cases) (p = 0.00014). No significant differences were observed in the distribution of mutations in exon 20. There was no significant correlation between PIK3CA mutations and other clinicopathological and biological variables, including age, tumour size, lymph node metastases, oestrogen receptor (ER) status, progesterone receptor (PgR) status, p53 gene mutations, and p53 protein expression. The findings indicate that in invasive breast carcinomas, PIK3CA alterations are mainly present in lobular and ductal tumours, whereas the other histological types, known to be associated with a favourable prognosis, show a very low incidence of PIK3CA mutations. Copyright (c) 2005 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.