Soto Parra Hector Josè, Noto Laura, Aiello Marco Maria
UOC Oncologia Medica, Azienda Ospedaliera Universitaria Policlinico San Marco, Catania.
Recenti Prog Med. 2020 Dec;111(12):58e-62e. doi: 10.1701/3509.34978.
The ALK gene (anaplastic lymphoma kinase) encodes a highly conserved tyrosine kinase receptor whose physiological function has not yet been fully established; in particular the fusion of ALK (mainly EML4-ALK) is the gene alteration that most frequently involves 3-7% of all non-small cell lung cancers. Neuroblastoma in adults (NB) is a rare tumor that can present somatic activating mutations in the ALK gene in 8-9% of patients (and up to 14% of high-risk NBs); these mutations occur in the tyrosine kinase domain in three key positions (F1174, F1245 and R1275), which account for approximately 85% of all ALK mutations in NB. In this article, we report the case of an adult patient with advanced mutation-positive NB treated with an ALK inhibitor ceritinib showing a therapeutic opportunity due to the molecular diagnostic techniques now available.
间变性淋巴瘤激酶(ALK)基因编码一种高度保守的酪氨酸激酶受体,其生理功能尚未完全明确;特别是ALK融合(主要是EML4-ALK)是一种基因改变,在所有非小细胞肺癌中,有3%-7%的病例最为常见。成人神经母细胞瘤(NB)是一种罕见肿瘤,8%-9%的患者(高危NB患者中这一比例高达14%)的ALK基因可出现体细胞激活突变;这些突变发生在酪氨酸激酶结构域的三个关键位置(F1174、F1245和R1275),约占NB中所有ALK突变的85%。在本文中,我们报告了一例晚期突变阳性成人NB患者的病例,该患者接受了ALK抑制剂色瑞替尼治疗,鉴于目前可用的分子诊断技术,显示出了治疗机会。