Rojo Federico, Colomer Ramón, López-Ríos Fernando, Bautista Francisco, Álvarez Rosa, de Álava Enrique, Hladun Raquel, Garrido Pilar
Sociedad Española de Anatomía Patológica (SEAP), IIS-Fundación Universitaria Jiménez Díaz, CIBERONC, Madrid, España.
Sociedad Española de Oncología Médica (SEOM), Hospital Universitario La Princesa, Universidad Autónoma de Madrid, Cátedra UAM-Fundación Instituto Roche de Medicina Personalizada de Precisión, Madrid, España.
Rev Esp Patol. 2021 Oct-Dec;54(4):250-262. doi: 10.1016/j.patol.2021.05.003. Epub 2021 Jul 10.
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 revolutionized 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 are either rare tumours with common NTRK fusions that may be diagnostic, or more common tumours with rare NTRK fusions. To assess the currently available evidence, 3key Spanish medical societies (the Spanish Society of Medical Oncology (SEOM), the Spanish Society of Pathology (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. It also discusses the challenges related to the routine detection of these genetic alterations in a mostly public health care system.
最近神经营养性酪氨酸受体激酶（NTRK）基因重排的鉴定以及特异性融合蛋白抑制剂（如拉罗替尼和恩曲替尼）的开发，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均有发现，它们要么是具有常见NTRK融合的罕见肿瘤（可能具有诊断意义），要么是具有罕见NTRK融合的更常见肿瘤。为了评估目前可用的证据，西班牙3个主要医学协会（西班牙医学肿瘤学会（SEOM）、西班牙病理学会（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融合肿瘤诊断、临床和治疗方面的指南。它还讨论了在主要为公共卫生保健系统中常规检测这些基因改变所面临的挑战。
