J H von der Thüsen1, D W Dumoulin2, A P W M Maat3, J Wolf4, A H Sadeghi3, J G J V Aerts2, R Cornelissen2. 1. Department of Pathology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands. Electronic address: j.vonderthusen@erasmusmc.nl. 2. Department of Pulmonary Medicine, Erasmus MC Cancer Institute, Rotterdam, the Netherlands. 3. Department of Thoracic Surgery Pathology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands. 4. Department of Pathology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.
Abstract
INTRODUCTION: NTRK fusion genes have been found in several solid tumors, among which NSCLC and sarcoma. Novel NTRK translocation-related tumors are still being discovered. METHODS: We 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. RESULTS: On 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. CONCLUSIONS: This 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'.
INTRODUCTION:NTRK fusion genes have been found in several solid tumors, among which NSCLC and sarcoma. Novel NTRK translocation-related tumors are still being discovered. METHODS: We 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. RESULTS: On 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. CONCLUSIONS: This 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'.