原发性食管鳞状细胞癌中PTEN/MMAC1基因的突变分析。
Mutational analysis of the PTEN/MMAC1 gene in primary oesophageal squamous cell carcinomas.
作者信息
Hu Y C, Lam K Y, Tang J C, Srivastava G
机构信息
Department of Pathology, Queen Mary Hospital, Hong Kong.
出版信息
Mol Pathol. 1999 Dec;52(6):353-6. doi: 10.1136/mp.52.6.353.
Abstract
AIM
To investigate whether PTEN/MMAC1 mutations play a role in the carcinogenesis of oesophageal squamous cell carcinoma.
METHODS
A panel of 33 primary oesophageal squamous cell carcinoma tumour samples and 20 corresponding morphologically normal tissues was examined for mutations in all nine exons of the PTEN/MMAC1 gene by means of polymerase chain reaction single strand conformational polymorphism analysis (PCR-SSCP) and direct DNA sequencing methods.
RESULTS
Only one of 33 oesophageal squamous cell carcinomas showed an aberrant SSCP band. Further sequencing analysis of this sample revealed an 802 -29 T-->C substitution in intron 7. PTEN/MMAC1 mutations were not found in the mutational "hot spot" in exon 5, even after direct sequencing of six oesophageal squamous cell carcinoma samples and three normal tissues. However, a deletion of one nucleotide T at position 492 +8 in intron 5 was seen in all samples.
CONCLUSION
These results suggest that PTEN/MMAC1 mutations do not play a major role in the carcinogenesis of oesophageal squamous cell carcinoma.
摘要
目的
研究PTEN/MMAC1突变在食管鳞状细胞癌发生过程中是否起作用。
方法
采用聚合酶链反应单链构象多态性分析（PCR-SSCP）和直接DNA测序方法，检测33例原发性食管鳞状细胞癌肿瘤样本及20例相应的形态学正常组织中PTEN/MMAC1基因全部9个外显子的突变情况。
结果
33例食管鳞状细胞癌中仅1例显示异常的SSCP条带。对该样本进一步测序分析发现内含子7中有802 -29 T→C替换。即使对6例食管鳞状细胞癌样本和3例正常组织进行直接测序后，在外显子5的突变“热点”区域也未发现PTEN/MMAC1突变。然而，在所有样本中均可见内含子5中第492 +8位的一个核苷酸T缺失。
结论
这些结果表明，PTEN/MMAC1突变在食管鳞状细胞癌的发生过程中不起主要作用。
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