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与来自中美洲患者相关的RET突变非小细胞肺癌(NSCLC)

RET mutated non-small cell lung cancer (NSCLC) in association with patients from Central America.

作者信息

Chen Lily Z, Gibson William J, Boulmay Brian C

机构信息

LSUHSC New Orleans Department of Internal Medicine, USA.

LSUHSC New Orleans Department of Hematology and Oncology, USA.

出版信息

Respir Med Case Rep. 2024 Sep 19;52:102118. doi: 10.1016/j.rmcr.2024.102118. eCollection 2024.

Abstract

The rearranged during transfection (RET) gene is on chromosome 10 (10q11.2) and normally encodes a receptor tyrosine kinase that plays a role in the development of the kidney, nervous, and respiratory systems. Aberrant RET gene activation can occur through gene mutations, gene fusions, or over expression leading to uncontrolled cell growth and the development of malignancy. The RET gene was first identified in 1985 as a protooncogene playing a role in the pathogenesis of lymphoma, and mutations are now associated with numerous cancers including lung, thyroid, breast, colon, prostate, and kidney. Activating RET mutations are estimated to occur in 1-2% of NSCLC cases. Our center (University Medical Center New Orleans) serves a diverse patient population, seeing approximately forty-five new diagnoses of advanced lung cancer per year. All patients with a new diagnosis of lung cancer have tumor material tested for mutations with use of high throughput next generation sequencing (NGS). The typical patient with a RET-mutated malignancy is a younger patient, nonsmoker, with adenocarcinoma histology. However, ethnicity has not been found to be associated with this driver mutation, unlike, for example, EGFR-mutated lung adenocarcinoma and its association with Asian women. In this case series we describe three patients identified as having a RET mutated lung adenocarcinoma, all of whom were originally from Honduras, presenting over the course of three years (3/2022, 5/2023, 6/2020).

摘要

转染期间重排(RET)基因位于10号染色体(10q11.2)上,正常情况下编码一种受体酪氨酸激酶,该激酶在肾脏、神经和呼吸系统的发育中发挥作用。RET基因的异常激活可通过基因突变、基因融合或过度表达发生,导致细胞生长失控和恶性肿瘤的发生。RET基因于1985年首次被鉴定为一种原癌基因,在淋巴瘤的发病机制中起作用,现在其突变与包括肺癌、甲状腺癌、乳腺癌、结肠癌、前列腺癌和肾癌在内的多种癌症相关。据估计,1%-2%的非小细胞肺癌(NSCLC)病例存在激活的RET突变。我们的中心(新奥尔良大学医学中心)服务于多样化的患者群体,每年约有45例新诊断的晚期肺癌患者。所有新诊断为肺癌的患者都使用高通量下一代测序(NGS)对肿瘤材料进行突变检测。RET突变恶性肿瘤的典型患者是年轻患者、不吸烟者,组织学类型为腺癌。然而,与例如EGFR突变的肺腺癌及其与亚洲女性的关联不同,尚未发现种族与这种驱动突变有关。在这个病例系列中,我们描述了三名被鉴定为患有RET突变肺腺癌的患者,他们均来自洪都拉斯,在三年期间(2022年3月、2023年5月、2020年6月)就诊。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93b9/11470625/20ae3b357402/fx1.jpg

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