PMID- 32828707 OWN - NLM STAT- MEDLINE DCOM- 20220114 LR - 20220114 IS - 2213-2945 (Print) IS - 2213-2953 (Linking) VI - 10 IP - 3 DP - 2021 May-Jun TI - Extraskeletal myxoid chondrosarcoma: combining cytopathology with molecular testing to achieve diagnostic accuracy. PG - 293-299 LID - S2213-2945(20)30264-7 [pii] LID - 10.1016/j.jasc.2020.07.135 [doi] AB - INTRODUCTION: Advances in the genetics of soft tissue neoplasia have allowed for the diagnostic recognition of specific tumor types from small biopsy specimens, including those procured using the fine needle aspiration (FNA) biopsy technique. Extraskeletal myxoid chondrosarcoma (EMC) is a malignant mesenchymal neoplasm characterized by NR4A3 and, less specifically, by EWSR1 gene rearrangements. A series of EMC cytologic specimens was examined to demonstrate the diagnostic value of incorporating fluorescence in situ hybridization (FISH) testing in cytologic cases of suspected EMC. MATERIALS AND METHODS: A search was made of our cytopathology and surgical pathology databases for cases diagnosed as EMC. FNA biopsy cytology, exfoliative cytology, imprint cytology, and FISH analysis were performed and examined using standard techniques. RESULTS: A total of 16 cases of EMC were retrieved from 15 patients (male/female ratio, 2.8:1; mean age, 62 years). Of the 15 patients, 10 were new patients with primary tumors, 2 had locally recurrent tumors, and 4 had metastases. The sites included the extremities in 10 cases, the trunk in 4, serous effusion in 1, and a mediastinal lymph node in 1 case. The specific cytologic diagnoses were EMC (14 cases; 88%), suspicious for EMC (n = 1), and malignant cells (n = 1). All cases for which FISH testing was successfully used were specifically recognized as EMC. Aspirates and imprint smears consisted of uniformly rounded cells set in an opaque myxoid/chondromyxoid stroma (less abundant and more diaphanous in the effusion sample), sometimes arranged in short anastomosing cords. FNA of 1 case of an EMC cellular variant mimicked a malignant small rounded cell tumor. CONCLUSION: EMC can be added to the growing list of soft tissue neoplasms that are specifically recognizable using cytopathology, coupled with judicious application of ancillary molecular testing. CI - Copyright (c) 2020 American Society of Cytopathology. Published by Elsevier Inc. All rights reserved. FAU - Wakely, Paul E Jr AU - Wakely PE Jr AD - Department of Pathology, James Cancer Hospital and Solove Research Institute, The Ohio State University Wexner Medical Center, Columbus, Ohio. Electronic address: paul.wakely@osumc.edu. LA - eng PT - Journal Article DEP - 20200731 PL - United States TA - J Am Soc Cytopathol JT - Journal of the American Society of Cytopathology JID - 101613234 RN - 0 (DNA-Binding Proteins) RN - 0 (EWSR1 protein, human) RN - 0 (NR4A3 protein, human) RN - 0 (RNA-Binding Protein EWS) RN - 0 (Receptors, Steroid) RN - 0 (Receptors, Thyroid Hormone) RN - Chondrosarcoma, Extraskeletal Myxoid SB - IM MH - Adult MH - Aged MH - Aged, 80 and over MH - Biopsy, Fine-Needle MH - Chondrosarcoma/*diagnosis/*genetics/pathology MH - DNA-Binding Proteins/genetics MH - Female MH - Gene Rearrangement MH - Humans MH - In Situ Hybridization, Fluorescence/*methods MH - Male MH - Middle Aged MH - Molecular Diagnostic Techniques/*methods MH - Neoplasms, Connective and Soft Tissue/*diagnosis/*genetics/pathology MH - RNA-Binding Protein EWS/genetics MH - Receptors, Steroid/genetics MH - Receptors, Thyroid Hormone/genetics MH - Soft Tissue Neoplasms/*diagnosis/*genetics/pathology OTO - NOTNLM OT - EWSR1 OT - Extraskeletal myxoid chondrosarcoma OT - Fine needle aspiration biopsy OT - Fluorescence in situ hybridization OT - NR4A3 EDAT- 2020/08/24 06:00 MHDA- 2022/01/15 06:00 CRDT- 2020/08/24 06:00 PHST- 2020/06/19 00:00 [received] PHST- 2020/07/21 00:00 [revised] PHST- 2020/07/21 00:00 [accepted] PHST- 2020/08/24 06:00 [pubmed] PHST- 2022/01/15 06:00 [medline] PHST- 2020/08/24 06:00 [entrez] AID - S2213-2945(20)30264-7 [pii] AID - 10.1016/j.jasc.2020.07.135 [doi] PST - ppublish SO - J Am Soc Cytopathol. 2021 May-Jun;10(3):293-299. doi: 10.1016/j.jasc.2020.07.135. Epub 2020 Jul 31.