Frameshift mutations at coding mononucleotide repeat microsatellites in endometrial carcinoma with microsatellite instability.
作者： Lluis Catasus , Xavier Matias‐Guiu , Pilar Machin , Gian Franco Zannoni , Giovanni Scambia
DOI: 10.1002/(SICI)1097-0142(20000515)88:10<2290::AID-CNCR13>3.0.CO;2-I
关键词:
摘要: BACKGROUND Microsatellite instability (MI) is a frequent occurrence in endometrioid carcinoma of the endometrium (EC). Several genes known to contain mononucleotide short tracts their coding sequences (TGF-β RII, IGFIIR, BAX, hMSH6, and hMSH3) are likely targets for mutations these tumors. METHODS DNA from 24 patients with EC MI was extracted blood fresh-frozen paraffin embedded tumor tissue. Seven were found have metastatic spread paraaortic lymph nodes. DNA also studied 10 without MI. RESULTS Frameshift at repeats detected by single strand conformation polymorphism analysis sequencing. Frameshift more frequently BAX (11 positive (+) tumors; 45.8%) than TGF-β RII (0 0%), IGFIIR (3 12.5%), hMSH3 (6 25%), or hMSH6 0%). The distributed heterogeneously throughout tumors. Overall, frameshift 1 repeat microsatellites 17 MI+ tumors (70.8%) but none negative neoplasms. In seven node metastases, IGFRII commonly those (three patients) rather primary (one seven) tumors. CONCLUSIONS The results current study confirm that an important target gene ECs MI. detection metastases suggest may play role progression patients. Cancer 2000;88:2290–7. © 2000 American Society.
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