PMID- 34344072 OWN - NLM STAT- MEDLINE DCOM- 20210805 LR - 20220531 IS - 0529-5807 (Print) IS - 0529-5807 (Linking) VI - 50 IP - 8 DP - 2021 Aug 8 TI - [MAML2 gene rearrangement, fusion patterns and clinicopathological characteristics in primary pulmonary mucoepidermoid carcinoma]. PG - 891-898 LID - 10.3760/cma.j.cn112151-20210421-00308 [doi] AB - Objective: To investigate MAML2 gene rearrangement, gene fusion patterns, and the clinicopathological characteristics of primary pulmonary mucoepidermoid carcinoma (PMEC). Methods: Forty-six cases of primary PMEC from Fudan University Zhongshan Hospital and Fudan University Shanghai Cancer Center between 2017 and 2020 were collected. MAML2 gene rearrangement in all cases was detected by fluorescence in situ hybridization (FISH). In 20 cases, MAML2 fusion patterns were detected by targeted RNA sequencing (RNAseq). The relationship between MAML2 gene rearrangement, fusion patterns, clinicopathological characteristics, and prognosis was analyzed. Results: The average age of PMEC patients was 41 years (range 15-71 years); the ratio of male to female was about 1.1 ratio 1.0. Most PMECs were low grade in histopathology with an early clinical stage (stageⅠ-Ⅱ).The overall positive rate of MAML2 gene rearrangement detected by FISH was about 80.4% (37/46), and the rate was higher in low-grade PMEC (91.7%, 33/36). Of the 20 cases detected by RNAseq, all the 19 FISH positive cases showed gene fusion, mainly CRTC1-MAML2 fusion (16/19), the other three cases showed CRTC3-MAML2 fusion (3/19), the break point of all the fusion patterns was CRTC1/3 (exon 1)-MAML2 (exon 2); No gene fusion was detected in the single FISH negative case; Compared with the MAML2 FISH negative patients, the PMECs carrying CRTC1-MAML2 fusion were more commonly found in patients age