Department of Anatomical Pathology, University Health Network, Toronto General Hospital, Toronto, Ontario, Canada
J Clin Pathol. 2019 Mar;72(3):187-190. doi: 10.1136/jclinpath-2018-205672. Epub 2019 Jan 13.
The neurotrophic tropomyosin or tyrosine receptor kinase (NTRK) genes (1-3) are proto-oncogenes that when activated are encountered in a wide array of tumours. The recent advent of very specific and selective inhibitors of their gene fusions makes the NRTK gene fusions actionable. NRTK gene fusions are very characteristic of specific tumours: salivary mammary analogue secretory carcinoma, breast secretory carcinoma, infantile fibrosarcoma and congenital mesoblastic nephroma. Over 90% of these tumours bear NTRK gene fusions. While next-generation sequencing is the current platform of choice for the detection of NTRK fusions, immunohistochemistry also shows great promise. Immunohistochemical localisation of the fusion protein to the nucleus, cytoplasm, nuclear membrane and cell membrane is indicative of specific gene fusions involving the NTRK genes.
神经营养性原肌球蛋白或酪氨酸受体激酶（NTRK）基因（1-3）是原癌基因，当它们被激活时，会在多种肿瘤中遇到。最近出现了非常特异和选择性的抑制剂，可用于抑制它们的基因融合，使 NTRK 基因融合成为可治疗的靶点。NTRK 基因融合非常特征性地存在于特定的肿瘤中：唾液乳腺类似物分泌癌、乳腺分泌癌、婴儿纤维肉瘤和先天性中胚层肾瘤。超过 90%的这些肿瘤携带 NTRK 基因融合。虽然下一代测序是当前检测 NTRK 融合的首选平台，但免疫组织化学也显示出巨大的潜力。融合蛋白在细胞核、细胞质、核膜和细胞膜中的免疫组织化学定位提示涉及 NTRK 基因的特定基因融合。
