Department of Pathology, Brigham & Women's Hospital, 75 Francis Street, Boston, MA 02115, USA.
Department of Pathology, Brigham & Women's Hospital, 75 Francis Street, Boston, MA 02115, USA.
Surg Pathol Clin. 2023 Dec;16(4):635-650. doi: 10.1016/j.path.2023.05.002. Epub 2023 Jul 23.
Molecular testing is an essential component of the pathologic evaluation of colorectal carcinoma providing diagnostic, prognostic, and predictive therapeutic information. Mismatch repair status evaluation is required for all tumors. Advanced and metastatic tumors also require determination of tumor mutational burden, KRAS, NRAS, and BRAF mutation status, ERBB2 amplification status, and NTRK and RET gene rearrangement status to guide therapy. Multiple assays, including immunohistochemistry, microsatellite instability testing, MLH1 promoter methylation, and next-generation sequencing, are typically needed. Pathologists must be aware of these requirements to optimally triage tissue. Advances in colorectal cancer molecular diagnostics will continue to drive refinements in colorectal cancer personalized therapy.
分子检测是结直肠癌病理评估的重要组成部分，可为诊断、预后和预测治疗提供信息。所有肿瘤都需要评估错配修复状态。晚期和转移性肿瘤还需要确定肿瘤突变负担、KRAS、NRAS 和 BRAF 突变状态、ERBB2 扩增状态以及 NTRK 和 RET 基因重排状态，以指导治疗。通常需要多种检测方法，包括免疫组织化学、微卫星不稳定性检测、MLH1 启动子甲基化和下一代测序。病理学家必须了解这些要求，以最佳地进行组织分类。结直肠癌分子诊断的进步将继续推动结直肠癌个体化治疗的精细化。
