PMID- 32258022 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20220413 IS - 2296-4681 (Print) IS - 2296-4657 (Electronic) IS - 2296-4657 (Linking) VI - 6 IP - 2 DP - 2020 Mar TI - Mucoepidermoid Carcinoma of the Lacrimal Sac: Clinical-Pathologic Analysis, Including Molecular Genetics. PG - 138-144 LID - 10.1159/000502699 [doi] AB - PURPOSE: The aim of this study was to assess whether mucoepidermoid carcinoma of the lacrimal sac is a counterpart of CRTC1/3-MAML2 gene fusion-related salivary gland mucoepidermoid carcinoma. METHODS: In this retrospective observational case series, pathology records were searched for all cases of lacrimal sac mucoepidermoid carcinoma diagnosed between 1990 and 2018. Data collected included demographics, clinical findings, management, and follow-up. Pathologic parameters assessed included tumor morphology, immunohistochemistry, and MAML2 and EGFR fluorescence in situ hybridization (FISH) studies. RESULTS: Six patients with mucoepidermoid carcinoma of the lacrimal sac, 5 males and 1 female, with a median age of 63 years (range 24-66) were identified. Five tumors were managed with radical resection and 1 patient underwent orbital exenteration. None of the patients developed recurrence or metastases with an average follow-up of 18 months (range 13-23). All tumors had morphologic and immunohistochemical features of mucoepidermoid carcinoma and overexpressed EGFR. MAML2 FISH was negative for MAML2 rearrangement in all tumors. EGFR FISH demonstrated EGFR amplification in 1 tumor. CONCLUSIONS: Mucoepidermoid carcinoma of the lacrimal sac is not a lacrimal sac counterpart of CRTC1/3-MAML2 gene fusion-related salivary gland mucoepidermoid carcinoma. EGFR pathway activation and EGFR amplification in a subset of these neoplasms suggest the potential role for anti-EGFR agents. CI - Copyright (c) 2019 by S. Karger AG, Basel. FAU - Gervasio, Kalla A AU - Gervasio KA AD - Department of Ophthalmology, Wills Eye Hospital, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA. FAU - Zhang, Paul J L AU - Zhang PJL AD - Department of Pathology and Laboratory Medicine, Hospital of The University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania, USA. FAU - Penne, Robert B AU - Penne RB AD - Department of Ophthalmology, Wills Eye Hospital, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA. AD - Oculoplastic and Orbital Surgery Service, Wills Eye Hospital, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA. FAU - Stefanyszyn, Mary A AU - Stefanyszyn MA AD - Department of Ophthalmology, Wills Eye Hospital, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA. AD - Oculoplastic and Orbital Surgery Service, Wills Eye Hospital, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA. FAU - Eagle, Ralph C Jr AU - Eagle RC Jr AD - Department of Ophthalmology, Wills Eye Hospital, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA. AD - Department of Pathology, Wills Eye Hospital, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA. FAU - Puthiyaveettil, Raghunath AU - Puthiyaveettil R AD - Department of Pathology and Laboratory Medicine, Hospital of The University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania, USA. FAU - Milman, Tatyana AU - Milman T AD - Department of Ophthalmology, Wills Eye Hospital, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA. AD - Department of Pathology, Wills Eye Hospital, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA. LA - eng PT - Journal Article DEP - 20190920 PL - Switzerland TA - Ocul Oncol Pathol JT - Ocular oncology and pathology JID - 101656139 PMC - PMC7109434 OTO - NOTNLM OT - Adenosquamous carcinoma OT - CRTC1/3-MAML2 OT - EGFR OT - Lacrimal sac carcinoma OT - Lacrimal sac mucoepidermoid carcinoma OT - MAML2 OT - Mucoepidermoid carcinoma COIS- The authors have no conflicts of interest to declare. None of the authors have relevant financial relationships with commercial interests. EDAT- 2020/04/08 06:00 MHDA- 2020/04/08 06:01 PMCR- 2021/03/01 CRDT- 2020/04/08 06:00 PHST- 2019/07/03 00:00 [received] PHST- 2019/08/12 00:00 [accepted] PHST- 2020/04/08 06:00 [entrez] PHST- 2020/04/08 06:00 [pubmed] PHST- 2020/04/08 06:01 [medline] PHST- 2021/03/01 00:00 [pmc-release] AID - oop-0006-0138 [pii] AID - 10.1159/000502699 [doi] PST - ppublish SO - Ocul Oncol Pathol. 2020 Mar;6(2):138-144. doi: 10.1159/000502699. Epub 2019 Sep 20.