Document Type

Article

Publication Date

9-19-2024

Publication Title

Respiratory Medicine Case Reports

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).

PubMed ID

39398876

Volume

52

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