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BUB1B、DLGAP5 和 PINK1 的联合表达可预测肾上腺皮质肿瘤的不良预后:巴西成人和儿科患者队列的验证。

Combined expression of BUB1B, DLGAP5, and PINK1 as predictors of poor outcome in adrenocortical tumors: validation in a Brazilian cohort of adult and pediatric patients.

机构信息

Unidade de Suprarrenal, Laboratório de Hormônios e Genética Molecular/LIM42 da Disciplina de Endocrinologie Metabologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Avenida Dr Eneas de Carvalho Aguiar 155, 20 andar, Bloco 6, CEP: 05403900 São Paulo, Brazil.

出版信息

Eur J Endocrinol. 2012 Jan;166(1):61-7. doi: 10.1530/EJE-11-0806. Epub 2011 Nov 2.

Abstract

BACKGROUND

A recent microarray study identified a set of genes whose combined expression patterns were predictive of poor outcome in a cohort of adult adrenocortical tumors (ACTs). The difference between the expression values measured by qRT-PCR of DLGAP5 and PINK1 genes was the best molecular predictor of recurrence and malignancy. Among the adrenocortical carcinomas, the combined expression of BUB1B and PINK1 genes was the most reliable predictor of overall survival. The prognostic and molecular heterogeneity of ACTs raises the need to study the applicability of these molecular markers in other cohorts.

OBJECTIVE

To validate the combined expression of BUB1B, DLGAP5, and PINK1 as outcome predictor in ACTs from a Brazilian cohort of adult and pediatric patients.

PATIENTS AND METHODS

BUB1B, DLGAP5, and PINK1 expression was assessed by quantitative PCR in 53 ACTs from 52 patients - 24 pediatric and 28 adults (one pediatric patient presented a bilateral asynchronous ACT).

RESULTS

DLGAP5-PINK1 and BUB1B-PINK1 were strong predictors of disease-free survival and overall survival, respectively, among adult patients with ACT. In the pediatric cohort, these molecular predictors were only marginally associated with disease-free survival but not with overall survival.

CONCLUSION

This study confirms the prognostic value of the combined expression of BUB1B, DLGAP5, and PINK1 genes in a Brazilian group of adult ACTs. Among pediatric ACTs, other molecular predictors of outcome are required.

摘要

背景

最近的一项微阵列研究确定了一组基因,其表达模式的组合可预测一组成人肾上腺皮质肿瘤(ACT)患者的不良预后。qRT-PCR 测量的 DLGAP5 和 PINK1 基因表达值之间的差异是复发和恶性的最佳分子预测指标。在肾上腺皮质癌中,BUB1B 和 PINK1 基因的联合表达是总生存的最可靠预测指标。ACT 的预后和分子异质性需要研究这些分子标志物在其他队列中的适用性。

目的

验证 BUB1B、DLGAP5 和 PINK1 的联合表达作为巴西成人和儿科患者 ACT 队列的预后预测因子。

患者和方法

通过定量 PCR 评估 53 例来自 52 例患者的 ACTs 中 BUB1B、DLGAP5 和 PINK1 的表达 - 24 例儿科和 28 例成人(1 例儿科患者存在双侧异步 ACT)。

结果

在成人 ACT 患者中,DLGAP5-PINK1 和 BUB1B-PINK1 分别是无病生存和总生存的强有力预测因子。在儿科队列中,这些分子预测因子仅与无病生存有一定关联,但与总生存无关。

结论

本研究证实了 BUB1B、DLGAP5 和 PINK1 基因联合表达在巴西成人 ACT 中的预后价值。在儿科 ACT 中,需要其他分子预后指标。

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