Sociedad Española de Oncología Médica (SEOM), Departamento de Oncología Médica, Hospital Universitario Ramón y Cajal, Universidad de Alcalá, IRYCIS, CIBERONC, Madrid, Spain.
Sociedad Española de Hematología y Oncologías Pediátricas (SEHOP), Departamento de Oncología, Hematología y Trasplante de Progenitores Hematopoyéticos Pediátricos, Hospital Universitario Vall d'Hebron, Barcelona, Spain.
Clin Transl Oncol. 2021 Aug;23(8):1529-1541. doi: 10.1007/s12094-021-02558-0. Epub 2021 Feb 23.
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.
最近发现神经营养酪氨酸受体激酶（NTRK）基因重排，以及特定融合蛋白抑制剂（如 larotrectinib 和 entrectinib）的开发，彻底改变了具有这些改变的肿瘤患者的诊断和临床管理。携带 NTRK 融合的肿瘤可发生于成人和儿童；它们可能具有诊断意义的是罕见肿瘤，具有常见的 NTRK 融合，或者是更常见的具有罕见 NTRK 融合的肿瘤。为了评估这方面现有的证据，三个主要的西班牙医学协会（西班牙肿瘤医学学会（SEOM）、西班牙病理解剖学会（SEAP）和西班牙儿科血液学和肿瘤学会（SEHOP））召集了一组专家制定了一份共识文件，其中包括关于 NTRK 融合肿瘤的诊断、临床和治疗方面的指南。本文还讨论了在主要公共医疗保健系统中常规检测这些遗传改变相关的挑战。
