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p53基因突变与食管癌生物学行为的关系 |
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何友吉 李明发 单祥年
【摘要】 目的 为了探讨p53基因突变与食管癌生物学行为及预后的关系。方法
应用PCR-SSCP结合DNA直接银染测序，对30例散发性食管癌组织p53基因第5～8外显子
进行检测。结果 检出11例阳性，突变检出率为36.7%。9例为点突变，其中错义突变4
例、无义突变2例、同义突变3例，其余2例为碱基插入和缺失导致的移码突变。统计学
分析显示：中低分化食管癌的p53突变率为56.3%，高分化组为14.3%，两组相比有非常
显著性差异(P＝0.025)；癌组织浸润累及食管壁全层的p53突变率52.6%显著高于未累及
全层组9.1%(P＝0.024)；有淋巴结转移组与无淋巴结转移组相比，p53突变率分别为61.5%
和17.6%也具有非常显著性差异(P＝0.024)。结论 p53基因突变与食管癌多种生物学行
为如组织分化程度、肿瘤浸润程度及淋巴结转移有明显相关性。因此检测食管癌组织中
是否存在p53基因突变有助于判断食管癌的恶性程度和患者的预后。还讨论了p53基因的
“显性负效应”及同义突变的遗传学效应。
【关键词】 食管癌 p53基因 突变 生物学行为
THE RELATIONSHIP BETWEEN p53 MUTATION AND ESOPHAGEAL CANCER
BIOL OGICAL BEHAVIOR He Youji*, Li Mingfa, Shang Xiangnian.*Department of
Biology, Nanjing Railway Medical Colllege, Nanjing 210009
【Abstract】 Objective To investigate the relationship between p53mutation and esophageal
cancer biological behavior as well as its prognosticrole in esophageal cancer. Method Mutations in
exon 5-8 of p53 were screenedin 30 sporadic esophageal cancers by a combination of PCR-SSCP
and PCR-directDNA silver sequencing. Results Mutations were found in 11 cases (36.7%). There
were 9 point mutations, including 4 missense mutations, 2 nonsense mutations,3 silent mutations. The
other 2 cases were frameshift mutationsdue to baseinsertion and deletion. With statistical analysis, the
p53 mutationrate was56.3% in moderately and poorly-differentiated esophageal cancers, 14.3%
inwell-differentiated cases, with a highly significant differencebetween the two groups (P＝0.025). The
mutation rate of the cancers with all layers invaded(52.6%) was remarkably higher than that of the cancers
withoutall layers invaded(9.1%)(P＝0.024). A significantly higher rate of p53 mutationwas also seen
incases with lymph nodes metastasis (61.5%) than in cases withno lymph nodesmetastasis (17.6%)(P＝0.024).
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