伴有侵袭性特征的甲状腺癌的基因组分析及其与临床病理特征的关系。
Genomic Profiling of Aggressive Thyroid Cancer in Association With its Clinicopathological Characteristics.
机构信息
Department of Pathology, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok Hospital, Daegu, Republic of Korea.
Department of Pathology, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok Hospital, Daegu, Republic of Korea
出版信息
In Vivo. 2022 Jan-Feb;36(1):111-120. doi: 10.21873/invivo.12682.
BACKGROUND/AIM: Poorly differentiated thyroid carcinoma (PDTC), anaplastic thyroid carcinoma (ATC), and advanced DTC have poor outcomes.
MATERIALS AND METHODS
We performed next-generation sequencing in nine selected aggressive thyroid cancers.
RESULTS
Among the nine patients, the driver gene mutations BRAF V600E (3/9) and NRAS Q61K (1/9) were detected. Other oncogenic mutations included ERBB2 (1/9) and CDK4 (1/9). Telomerase reverse transcriptase (TERT) promoter mutation was found in five cases. Among tumor suppressor genes, mutations in TP53 (3/9), ARID1A (1/9), APC (1/9), MEN1 (1/9), DICER1 (1/9), and MED12 (1/9) were identified. RET fusions were found in two cases, one with PTDC and the other with ATC. The ATC with RET fusion also harbored TP53 and TERT promoter mutations. None of the PDTC cases had BRAF or RAS gene alterations.
CONCLUSION
Since genetic alterations with therapeutic and prognostic implications were detected using next-generation sequencing, this technique is recommended to be performed for patients with aggressive thyroid cancer.
背景/目的：低分化甲状腺癌（PDTC）、间变性甲状腺癌（ATC）和晚期 DTC 预后较差。
材料和方法
我们对 9 种侵袭性甲状腺癌进行了下一代测序。
结果
在 9 名患者中，检测到驱动基因突变 BRAF V600E（3/9）和 NRAS Q61K（1/9）。其他致癌基因突变包括 ERBB2（1/9）和 CDK4（1/9）。5 例存在端粒酶逆转录酶（TERT）启动子突变。在肿瘤抑制基因中，发现 TP53（3/9）、ARID1A（1/9）、APC（1/9）、MEN1（1/9）、DICER1（1/9）和 MED12（1/9）突变。RET 融合在 2 例中发现，一例为 PDTC，另一例为 ATC。RET 融合的 ATC 还存在 TP53 和 TERT 启动子突变。没有 PDTC 病例存在 BRAF 或 RAS 基因突变。
结论
由于使用下一代测序检测到具有治疗和预后意义的基因改变，因此建议对侵袭性甲状腺癌患者进行该技术检测。
Zotero 插件