An odd dancing couple. Non-small cell lung carcinoma with coexisting EGFR mutation and NTRK-1 translocation: A case report

IF 1 4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY
Ramon Robledano MD, Maria D. Lozano MD, PhD
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Abstract

In the 21st century, there has been a dramatic shift in the diagnosis and management of non-small cell lung carcinoma (NSCLC), with an increasing use of minimally invasive tissue acquisition methods. Current treatments require morphologic subtyping and biomarker information in all cases. Determining such biomarkers is a continuously evolving field; current guidelines state that the determination of mutations on the Epidermal Growth Factor (EFGR), Kirsten Rat Sarcoma viral oncogene homolog (KRAS), Proto-oncogene B-Raf (BRAF), Human epidermal growth factor receptor 2 (HER2) and Anaplastic Lymphoma Kinase (ALK), genes as well as fusions on genes such as ROS Proto-Oncogene 1, Receptor Tyrosine Kinase (ROS1), MET proto-oncogene, receptor tyrosine kinase (MET), RET proto-oncogene (RET), and the Neurotrophic Tyrosine Receptor Kinase (NTRK) family is mandatory. While analyzing such alterations, some of them were first reported to be mutually exclusive, although in recent years, it has been shown otherwise in some of these cases. Moreover, so was the case with the concomitant expression of NTRK fusions and EGFR mutations. We present a case report of a patient with concomitant EGFR mutation and NTRK1 fusion.

Abstract Image

一对奇特的舞伴非小细胞肺癌并存表皮生长因子受体(EGFR)突变和 NTRK-1 易位:病例报告
进入 21 世纪以来,非小细胞肺癌(NSCLC)的诊断和治疗方法发生了巨大变化,微创组织采集方法的应用日益广泛。目前的治疗方法要求对所有病例进行形态学亚型和生物标志物信息分析。确定此类生物标记物是一个不断发展的领域;目前的指南规定,要确定表皮生长因子(EFGR)、克氏鼠肉瘤病毒癌基因同源物(KRAS)、原癌基因 B-Raf(BRAF)、人类表皮生长因子受体 2(HER2)和无性淋巴瘤激酶(ALK)的突变、基因,以及 ROS 原癌基因 1、受体酪氨酸激酶 (ROS1)、MET 原癌基因、受体酪氨酸激酶 (MET)、RET 原癌基因 (RET) 和神经营养酪氨酸受体激酶 (NTRK) 家族等基因的融合。在分析这些改变时,其中一些改变最初被报告为相互排斥的,但近年来,其中一些病例被证明并非如此。此外,NTRK融合和表皮生长因子受体突变同时存在的情况也是如此。我们报告了一例表皮生长因子受体(EGFR)突变和NTRK1融合同时存在的患者。
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来源期刊
Diagnostic Cytopathology
Diagnostic Cytopathology 医学-病理学
CiteScore
2.60
自引率
7.70%
发文量
163
审稿时长
3-6 weeks
期刊介绍: Diagnostic Cytopathology is intended to provide a forum for the exchange of information in the field of cytopathology, with special emphasis on the practical, clinical aspects of the discipline. The editors invite original scientific articles, as well as special review articles, feature articles, and letters to the editor, from laboratory professionals engaged in the practice of cytopathology. Manuscripts are accepted for publication on the basis of scientific merit, practical significance, and suitability for publication in a journal dedicated to this discipline. Original articles can be considered only with the understanding that they have never been published before and that they have not been submitted for simultaneous review to another publication.
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