Allelic loss of the PTEN region (10q23) in breast carcinomas of poor pathophenotype
Allelic loss of the PTEN region (10q23) in breast carcinomas of poor pathophenotype
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DOI：
10.1023/a:1006273516976
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发表时间：
1999-10-01
影响因子：
3.8
通讯作者：
Bonilla, F
中科院分区：
文献类型：
--
作者：
Garcia, JM;Silva, JM;Bonilla, F
在包括乳腺癌在内的几种原发性人类肿瘤中发现了10 q23区域中携带PTEN基因的位点的杂合性缺失（洛）和该基因序列的突变，这表明该基因可能与其发病机制有关。我们调查了10 q23区域微卫星的等位基因丢失，以及它们与105例乳腺癌9个病理参数的相关性。用PCR扩增10 q23区域的5个标记（D10 S1687、D10 S541、D10 S2491、D10 S583和D10 S571）进行洛缺失分析。在29.5%的肿瘤中发现了至少一个PTEN区域标记物的洛。在病理学参数方面，有和无洛缺失的癌之间的统计学比较显示，在年龄（p = 0.03）、淋巴结转移（p = 0.02）和较高的组织学分级（p = 0.02）方面存在显著差异;发现孕激素受体有显著性趋势（p = 0.05）。单个标记物的洛和与肿瘤特征的统计学显著关系在位点D10 S541观察到淋巴结转移（p = 0.04），在D10 S2491（基因内的PTEN基因）观察到淋巴结转移（p = 0.02），在D10 S583观察到孕酮受体（p = 0.01）和高级别（p = 0.03）。这些结果表明，PTEN基因，或其他基因的10 q23区域，可能是功能相关的乳腺癌，可能会影响发展的组织学特征与预后不良。
Loss of heterozygosity (LOH) in loci of the 10q23 region that harbor the PTEN gene and mutations in the sequence of this gene have been found in several primary human tumors including breast carcinomas, suggesting that this gene could be implicated in their pathogenesis. We investigated allelic losses in microsatellites of the 10q23 region, and their correlations with nine pathologic parameters in 105 breast carcinomas. The LOH analysis was performcd by amplifying DNA by PCR, using five markers of the 10q23 region (D10S1687, D10S541, D10S2491, D10S583 and D10S571). LOH in at least one marker of the PTEN region was found in 29.5% of tumors. The statistical comparison between carcinomas with and without LOH in terms of the pathologic parameters showed significant differences in age (p = 0.03), lymph node metastases (p = 0.02), and higher histological grade (p = 0.02); a trend toward significance was found for progesterone receptors (p = 0.05). LOH in an individual marker and statistically significant relationships to tumor characteristics were observed at locus D10S541 for lymph node metastases (p = 0.04), at D10S2491 (intragenic to the PTEN gene) for lymph node metastases (p = 0.02), and at D10S583 for progesterone receptors (p = 0.01) and for high grade (p = 0.03). These results suggest the PTEN gene, or other genes of the 10q23 region, could be functionally related to breast cancer, probably influencing the development of histological features associated with poor prognosis.