Pathological Anatomy Unit, Padua University Hospital, 35121 Padua, Italy.
Department of Pathology, Angelo Hospital, 30174 Venice, Italy.
Int J Mol Sci. 2022 Dec 6;23(23):15366. doi: 10.3390/ijms232315366.
Merkel cell carcinoma (MCC) is a rare and aggressive cutaneous malignant tumor with neuroendocrine differentiation, with a rapidly growing incidence rate, high risk of recurrence, and aggressive behavior. The available therapeutic options for advanced disease are limited and there is a pressing need for new treatments. Tumors harboring fusions involving one of the neurotrophin receptor tyrosine kinase () genes are now actionable with targeted inhibitors. -fused genes have been identified in neuroendocrine tumors of other sites; thus, a series of 76 MCCs were firstly analyzed with pan-TRK immunohistochemistry and the positive ones with real-time RT-PCR, RNA-based NGS, and FISH to detect the eventual underlying gene fusion. Despite 34 MCCs showing pan-TRK expression, fusions were not found in any cases. As in other tumors with neural differentiation, TRK expression seems to be physiological and not caused by gene fusions.
默克尔细胞癌(Merkel cell carcinoma,MCC)是一种罕见且具有神经内分泌分化的侵袭性皮肤恶性肿瘤,其发病率呈快速增长趋势,具有高复发风险和侵袭性行为。对于晚期疾病,现有的治疗选择有限,因此迫切需要新的治疗方法。目前已有针对涉及神经生长因子受体酪氨酸激酶(neurotrophin receptor tyrosine kinase,TRK)之一融合基因的靶向抑制剂,这些融合基因已在其他部位的神经内分泌肿瘤中被鉴定出来;因此,首先用泛 TRK 免疫组化分析了 76 例 MCC,并对阳性病例进行实时 RT-PCR、基于 RNA 的 NGS 和 FISH 检测潜在的基因融合。尽管 34 例 MCC 显示出泛 TRK 表达,但在任何病例中均未发现 融合。与其他具有神经分化的肿瘤一样,TRK 表达似乎是生理性的,而不是由基因融合引起的。