【佳学基因靶向药物基因检测】涉及表观遗传调控基因和 RhoA GTPase 的肿瘤突变负荷可预测淋巴结成熟 T 细胞淋巴瘤的总体存活率

基因检测号码资源

深研组织分子诊断与基因分析明白《Clin Epigenetics》在 2022 Dec 19;14(1):180.发表了一篇题目为《》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Luís Alberto de Pádua Covas Lage, Hebert Fabrício Culler, Guilherme Carneiro Barreto, Cadiele Oliana Reichert, Débora Levy, Renata de Oliveira Costa, Vanderson Rocha, Juliana Pereira等完成。促进了肿瘤的精准治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤基因检测及靶向药物治疗研究关键词：

临床结果,表观遗传学,分子生物标志物,淋巴结成熟 T 细胞淋巴瘤, RhoA突变。

肿瘤治疗检测基因临床应用结果

淋巴结成熟 T 细胞淋巴瘤 (nMTCL) 包括一组具有侵袭性生物学行为和不良预后的异质性罕见恶性肿瘤。表观遗传现象，包括控制 DNA 甲基化和组蛋白去乙酰化的基因突变，以及 RhoA GTPase 的失活突变，在其发病机制中起着核心作用，并构成治疗干预的潜在新靶点。肿瘤突变负荷 (TMB) 反映了克隆进化的过程，预测了对抗癌治疗的反应，并已成为几种实体肿瘤的预后生物标志物；然而，其潜在的预后影响在 nMTCL 中仍然未知。在这项研究中，我们使用目标面板对福尔马林固定石蜡包埋 (FFPE) 诊断性肿瘤样本进行了 Sanger 测序，以搜索涉及 IDH-1/IDH-2、TET-2、DNMT3A 和 RhoA 基因的复发突变。 nMTCL 59例。我们首次证明，高 TMB（定义为存在 ≥ 两个涉及上述基因的突变）与接受 CHOP 样方案治疗的 nMTCL 患者的总生存期降低相关。此外，高 TMB 与大块疾病、较低的总体反应率和较高的死亡率相关。未来使用更大队列的研究可能会验证我们的初步结果，这些结果表明 TMB 是与 nMTCL 不良预后相关的潜在分子生物标志物。表观遗传学；分子生物标志物；淋巴结成熟 T 细胞淋巴瘤； RhoA突变。

肿瘤发生与革命国际数据库描述：

Nodal mature T-cell lymphomas (nMTCL) comprises a heterogeneous group of rare malignancies with aggressive biological behavior and poor prognosis. Epigenetic phenomena, including mutations in genes that control DNA methylation and histone deacetylation, in addition to inactivating mutations in the RhoA GTPase, play a central role in its pathogenesis and constitute potential new targets for therapeutic intervention. Tumor mutational burden (TMB) reflects the process of clonal evolution, predicts response to anti-cancer therapies and has emerged as a prognostic biomarker in several solid neoplasms; however, its potential prognostic impact remains unknown in nMTCL. In this study, we conducted Sanger sequencing of formalin-fixed paraffin-embedded (FFPE) diagnostic tumor samples using a target-panel to search for recurrent mutations involving the IDH-1/IDH-2, TET-2, DNMT3A and RhoA genes in 59 cases of nMTCL. For the first time, we demonstrated that high-TMB, defined by the presence of ≥ two mutations involving the aforementioned genes, was associated with decreased overall survival in nMTCL patients treated with CHOP-like regimens. Additionally, high-TMB was correlated with bulky disease, lower overall response rate, and higher mortality. Future studies using larger cohorts may validate our preliminary results that indicate TMB as a potential molecular biomarker associated with adverse prognosis in nMTCL.Keywords: Clinical outcomes; Epigenetics; Molecular biomarkers; Nodal mature T-cell lymphomas; RhoA mutation.