神经营养酪氨酸受体激酶(NTRK)基因重排的最新鉴定和特异性融合蛋白抑制剂的开发,例如拉罗列替尼和恩替尼,彻底改变了患有这些改变的肿瘤患者的诊断和临床管理。携带NTRK融合的肿瘤在成人和儿童中都有发现;它们要么是罕见的肿瘤,可能具有诊断性的常见NTRK融合,或更普遍的肿瘤与罕见的NTRK融合。为了评估目前有关此事的现有证据,三个主要的西班牙医学学会(西班牙医学肿瘤学会(SEOM),西班牙病理解剖学学会(SEAP),西班牙儿科血液学和肿瘤学学会(SEHOP)召集了一组专家,以制定共识文件,其中包括诊断指南,临床,和NTRK融合肿瘤的治疗方面。本文还讨论了在主要是公共医疗保健系统中常规检测这些遗传改变的挑战。
The recent identification of rearrangements of neurotrophic tyrosine receptor kinase (NTRK) genes and the development of specific fusion protein inhibitors, such as larotrectinib and entrectinib, have revolutionised the diagnostic and clinical management of patients presenting with tumours with these alterations. Tumours that harbour NTRK fusions are found in both adults and children; and they are either rare tumours with common NTRK fusions that may be diagnostic, or more prevalent tumours with rare NTRK fusions. To assess currently available evidence on this matter, three key Spanish medical societies (the Spanish Society of Medical Oncology (SEOM), the Spanish Society of Pathological Anatomy (SEAP), and the Spanish Society of Paediatric Haematology and Oncology (SEHOP) have brought together a group of experts to develop a
consensus document that includes
guidelines on the diagnostic, clinical, and therapeutic aspects of NTRK-fusion tumours. This document also discusses the challenges related to the routine detection of these genetic alterations in a mostly public Health Care System.