Abstract
IntroductionNTRK fusion genes have been found in several solid tumors, among which NSCLC and sarcoma. Novel NTRK translocation-related tumors are still being discovered. MethodsWe report a 49-year-old patient with a mass in the left lower lung lobe that was resected. This specimen was analyzed and sequenced using targeted DNA next generation sequencing (NGS) and anchored-multiplex-PCR (AMP) targeted RNA NGS. ResultsOn pathological evaluation, a peribronchial mucinous neoplasm with a unique morphology was found. RNA NGS analysis showed anETV6-NTRK3 translocation in a low-grade mucinous bronchial adenocarcinoma. ConclusionsThis entity represents a novel subtype of non-small cell lung cancer, which we would like to term ‘ETV6-NTRK3 translocation-associated low-grade mucinous bronchial adenocarcinoma’.
Highlights
Neurotrophic tropomyosin receptor kinase (NTRK) fusion genes have been found in several solid tumors, among which non-small-cell lung cancer (NSCLC) and sarcoma
While NTRK gene fusions are found in only 0.2 %–3.3 % of NSCLC [1,2,3], NTRK fusions are certainly not restricted to lung cancer and can be found in a heterogeneous group across several tumor types
We report the finding of an NTRK fusion in a not previously described bronchial salivary gland-type non-small cell lung cancer
Summary
Neurotrophic tropomyosin receptor kinase (NTRK) fusion-positive tumors are one of the genetic subtypes of non-small-cell lung cancer (NSCLC) in a rapidly expanding mutational landscape. Firstgeneration NRTK-tyrosine kinase inhibitors (TKI) entrectinib and laro trectinib are already FDA approved, while taletrectinib and the generation NTRK-TKIs repotrectinib and selirectinib are being studied [1]. While NTRK gene fusions are found in only 0.2 %–3.3 % of NSCLC [1,2,3], NTRK fusions are certainly not restricted to lung cancer and can be found in a heterogeneous group across several tumor types. We report the finding of an NTRK fusion in a not previously described bronchial salivary gland-type non-small cell lung cancer
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