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第72位密码子的基因多态性作为新辅助化疗反应的预测指标

Gene Polymorphism at Codon 72 as a Response Predictor for Neoadjuvant Chemotherapy.

作者信息

Vieira Jussane Oliveira, Pesquero João Bosco, Nazário Afonso Celso Pinto

机构信息

Department of Gynecology of the Federal University of São Paulo (UNIFESP), São Paulo, Brazil.

Molecular Biology, Department of Biophysics, Federal University of São Paulo (UNIFESP), Ed. Pesquisa II - Centro De Pesquisa e Diagnóstico Molecular De Doenças Genéticas, São Paulo, Brazil.

出版信息

Breast Care (Basel). 2024 Apr;19(2):96-105. doi: 10.1159/000536115. Epub 2024 Jan 8.

Abstract

INTRODUCTION

Breast cancer is the most prevalent cancer in women worldwide, and neoadjuvant chemotherapy is a favored method for achieving pathologic complete response (pCR). The gene is involved in inducing the response to chemotherapy drugs.

OBJECTIVES

The present study sought to correlate polymorphism variants at codon 72 with pCR to neoadjuvant chemotherapy.

CASUISTRY AND METHODS

The study was conducted in the state of Sergipe, in northeastern Brazil. A total of 206 patients with a histopathological diagnosis of breast cancer who underwent neoadjuvant chemotherapy from 2019 to 2022 were included. DNA samples were collected for the evaluation of polymorphism at codon 72. A prospective evaluation of the cases was conducted to verify the surgical pathologic response after chemotherapy; the Response Evaluation Criteria in Solid Tumors (RECIST) were used. The study was approved by the University of São Paulo Ethics and Research Committee.

RESULTS

Of the 168 patients, 44.6% were Arg72Arg, 17.3% were Pro72Pro, and 38.0% were Arg72Pro; pCR was achieved in 21.4% of the patients; 10.1% had progressive disease, 13.7% had stable disease, and 54.2% had a partial pathologic response. The only predictor of pCR in multivariate regression was immunohistochemistry ( < 0.001). In the multivariate analysis, Arg72Pro and Pro72Pro increased the odds of the patient evolving with stable disease. This study was innovative in demonstrating a predictor of stable disease in response to neoadjuvant chemotherapy.

CONCLUSION

polymorphism at codon 72 is not a predictor of pCR, but it can be a predictor of stable disease.

摘要

引言

乳腺癌是全球女性中最常见的癌症,新辅助化疗是实现病理完全缓解(pCR)的常用方法。该基因参与诱导对化疗药物的反应。

目的

本研究旨在将密码子72处的多态性变体与新辅助化疗的pCR相关联。

病例与方法

该研究在巴西东北部的塞尔希培州进行。纳入了2019年至2022年期间接受新辅助化疗且组织病理学诊断为乳腺癌的206例患者。收集DNA样本以评估密码子72处的多态性。对病例进行前瞻性评估以验证化疗后的手术病理反应;采用实体瘤疗效评价标准(RECIST)。该研究获得圣保罗大学伦理与研究委员会的批准。

结果

在168例患者中,44.6%为Arg72Arg,17.3%为Pro72Pro,38.0%为Arg72Pro;21.4%的患者实现了pCR;10.1%有疾病进展,13.7%病情稳定,54.2%有部分病理反应。多变量回归中pCR的唯一预测因素是免疫组化(<0.001)。在多变量分析中,Arg72Pro和Pro72Pro增加了患者病情稳定发展的几率。本研究在证明新辅助化疗反应中病情稳定的预测因素方面具有创新性。

结论

密码子72处的多态性不是pCR的预测因素,但可能是病情稳定的预测因素。

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