PMID- 36481651 OWN - NLM STAT- MEDLINE DCOM- 20230123 LR - 20230123 IS - 1618-0631 (Electronic) IS - 0344-0338 (Linking) VI - 241 DP - 2023 Jan TI - Mucoepidermoid carcinoma of the esophagus with MAML2 gene rearrangement: Case report and literature review. PG - 154242 LID - S0344-0338(22)00486-1 [pii] LID - 10.1016/j.prp.2022.154242 [doi] AB - Mucoepidermoid carcinoma (MEC) is the most common salivary gland malignancy but rarely occurs in the esophagus. It is easily confused with adenosquamous carcinoma and squamous cell carcinoma (SCC) with mucus-secreting components. MAML2 gene rearrangement detected by fluorescence in situ hybridization (FISH), RT-PCR or next-generation sequencing (NGS) can aid in the diagnosis. We present a case of esophageal MEC with MAML2 gene rearrangement detected by FISH. To the best of our knowledge, this is the first report of an esophageal MEC with MAML2 gene rearrangement. We also reveal that esophageal MEC patients were reported to have a higher risk of recurrence and death than SCC patients in previous literature. However, all the cases were diagnosed using previous diagnostic criteria and not confirmed by MAML2 gene rearrangement detection, and most of them might not be true MECs. CI - Copyright (c) 2022 Elsevier GmbH. All rights reserved. FAU - Chen, Rongshan AU - Chen R AD - Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China. FAU - Wang, Bingzhi AU - Wang B AD - Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China. FAU - Li, Lin AU - Li L AD - Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China. FAU - Xue, Liyan AU - Xue L AD - Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China; Center for Cancer Precision Medicine, Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China. Electronic address: xuely@cicams.ac.cn. LA - eng PT - Case Reports PT - Review DEP - 20221202 PL - Germany TA - Pathol Res Pract JT - Pathology, research and practice JID - 7806109 RN - 0 (DNA-Binding Proteins) RN - 0 (Trans-Activators) RN - 0 (Nuclear Proteins) RN - 0 (Transcription Factors) RN - 0 (MAML2 protein, human) SB - IM MH - Humans MH - DNA-Binding Proteins/genetics MH - Trans-Activators/genetics MH - *Carcinoma, Mucoepidermoid/pathology MH - In Situ Hybridization, Fluorescence MH - Nuclear Proteins/genetics MH - Transcription Factors/genetics MH - Gene Rearrangement MH - *Salivary Gland Neoplasms/pathology MH - *Carcinoma, Squamous Cell/genetics MH - Esophagus/pathology OTO - NOTNLM OT - Esophagus OT - MAML2 OT - Mucoepidermoid carcinoma COIS- Declaration of Competing Interest The authors declare that they have no conflict of interest regarding this article. All the authors listed have approved the present submitted version. EDAT- 2022/12/09 06:00 MHDA- 2023/01/24 06:00 CRDT- 2022/12/08 23:51 PHST- 2022/06/06 00:00 [received] PHST- 2022/11/17 00:00 [revised] PHST- 2022/11/23 00:00 [accepted] PHST- 2022/12/09 06:00 [pubmed] PHST- 2023/01/24 06:00 [medline] PHST- 2022/12/08 23:51 [entrez] AID - S0344-0338(22)00486-1 [pii] AID - 10.1016/j.prp.2022.154242 [doi] PST - ppublish SO - Pathol Res Pract. 2023 Jan;241:154242. doi: 10.1016/j.prp.2022.154242. Epub 2022 Dec 2.