Kumarasinghe Marian Priyanthi, Houghton Daniel, Allanson Benjamin Michael, Price Timothy J
Anatomical Pathology, PathWest, QEII Medical Centre, School of Pathology and Laboratory Medicine, UWA and Curtin Medical School, J Block, Hospital Avenue, Nedlands, Western Australia 6009, Australia.
Department of Anatomical Pathology, PathWest, QEII Medical Centre, J Block, Hospital Avenue, Nedlands, Western Australia 6009, Australia.
Surg Pathol Clin. 2023 Dec;16(4):659-672. doi: 10.1016/j.path.2023.05.004. Epub 2023 Jun 23.
Malignancies of upper gastrointestinal tract are aggressive, and most locally advanced unresectable and metastatic cancers are managed by a combination of surgery and neoadjuvant/adjuvant chemotherapy and radiotherapy. Current therapeutic recommendations include targeted therapies based on biomarker expression of an individual tumor. All G/gastro-esophageal junction (GEJ) cancers should be tested for HER2 status as a reflex test at the time of diagnosis. Currently, testing for PDL 1 and mismatch repair protein status is optional. HER2 testing is restricted to adenocarcinomas only and endoscopic biopsies, resections, or cellblocks. Facilities should be available for performing validated immunohistochemical stains and in-situ hybridization techniques, and importantly, pathologists should be experienced with preanalytical and analytical issues and scoring criteria. Genomic profiling via next-generation sequencing (NGS) is another strategy that assess numerous mutations and other molecular events simultaneously, including HER2 amplification, MSS status, tumor mutation burden, and neurotrophic tropomyosin-receptor kinases gene fusions.
上消化道恶性肿瘤具有侵袭性，大多数局部晚期不可切除和转移性癌症通过手术与新辅助/辅助化疗及放疗联合治疗。当前的治疗建议包括基于个体肿瘤生物标志物表达的靶向治疗。所有胃/食管胃交界（GEJ）癌在诊断时均应进行HER2状态的检测，作为一项常规检测。目前，PDL 1和错配修复蛋白状态的检测为可选项目。HER2检测仅限于腺癌以及内镜活检、切除术或细胞块。应具备进行经过验证的免疫组织化学染色和原位杂交技术的设施，重要的是，病理学家应熟悉分析前和分析问题以及评分标准。通过下一代测序（NGS）进行基因组分析是另一种策略，可同时评估众多突变和其他分子事件，包括HER2扩增、微卫星稳定（MSS）状态、肿瘤突变负荷和神经营养性原肌球蛋白受体激酶基因融合。
