[胃肠道肿瘤的分子病理学]。

Magyar onkologia Pub Date : 2024-12-10 Epub Date: 2024-11-20
Tamás Strausz, László Báthory-Fülöp, Eszter Papp, Erika Tóth
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引用次数: 0

摘要

实体瘤的分子病理学检查不仅对支持组织学诊断至关重要,而且对检测遗传变异和预测性生物标志物也至关重要。分析预测性标志物是个性化癌症治疗的基础,通过病理检测直接影响患者的治疗。这些分析采用传统的免疫组化染色方法和分子遗传技术。在这两种方法中,预分析都至关重要,因此必须采用标准化和可重复的流程。结直肠癌的分子诊断侧重于检测 MAPK 通路(KRAS、NRAS、BRAF)中的激活突变,以及评估微卫星不稳定性和 HER2 扩增。免疫组化方法可以有效地确定胃癌的生物标记物,包括新型 claudin18.2。胃肠道间质瘤对伊马替尼的反应性需要通过分子检测来验证。针对微卫星不稳定性和 BRCA 基因突变的靶向治疗可提高胰腺癌患者的生存率。对于胆管恶性肿瘤,尤其是肝内小导管变异型胆管癌,IDH1突变和FGFR2融合的分析为治疗带来了新的前景。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Molecular pathology of gastrointestinal neoplasms].

The molecular pathological examination of solid tumors is essential not only for supporting histological diagnosis but also for detecting hereditary variations and predictive biomarkers. Analyzing predictive markers is fundamental to personalized cancer therapy, directly affecting patient care through pathological testing. These analyses employ both traditional immunohistochemical staining methods and molecular genetic techniques. In both approaches, preanalytics is of critical importance, necessitating the adoption of standardized and reproducible processes. Molecular diagnostics in colorectal cancer focuses on detecting activating mutations in the MAPK pathway (KRAS, NRAS, BRAF), as well as evaluating microsatellite instability and HER2 amplification. Immunohistochemical methods can effectively identify biomarkers for gastric cancers, including the novel claudin18.2. The responsiveness of gastrointestinal stromal tumors to imatinib requires validation via molecular testing. Patients diagnosed with pancreatic cancer may see enhanced survival rates by targeted therapy addressing microsatellite instability and BRCA mutations. In bile duct malignancies, especially intrahepatic cholangiocarcinoma of the small duct variant, the analysis of IDH1 mutations and FGFR2 fusions presents new treatment prospects.

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