PMID- 38483612 OWN - NLM STAT- MEDLINE DCOM- 20240417 LR - 20240426 IS - 1432-2307 (Electronic) IS - 0945-6317 (Linking) VI - 484 IP - 3 DP - 2024 Mar TI - The diagnostic utility of cytology specimen in a case of EWSR1::NFATC2 sarcoma. PG - 533-538 LID - 10.1007/s00428-024-03784-x [doi] AB - EWSR1::NFATC2 sarcoma, a rare round cell sarcoma constituting the majority of EWSR1::non-ETS sarcomas, has recently been defined in the latest WHO classification. To date, the cytological findings of EWSR1::NFATC2 sarcoma remain undocumented. We present the case of a 25-year-old man with a history of polyostotic fibrous dysplasia in the right leg, referred to our hospital with left thigh pain. Cytological findings included metachromasia, minimally pleomorphic round cells, and eosinophilic infiltration. There was no precursor fibrous dysplasia and the initial diagnosis was undifferentiated pleomorphic sarcoma. Following histologic review, we successfully performed immunocytochemistry and fluorescence in situ hybridization (FISH) on archival cytology specimens. The tumor cells were positive for NKX2-2, NKX3-1, and PAX7 and showed amplified 5' single signals of EWSR1 gene. Reverse transcriptase-polymerase chain reaction revealed an in-frame fusion of EWSR1 and NFATC2. This report describes the cytological features of EWSR1::NFATC2 sarcoma and highlights the diagnostic utility of archival cytology specimens. CI - (c) 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature. FAU - Takeda, Naoki AU - Takeda N AUID- ORCID: 0009-0008-2362-7179 AD - Division of Surgical Pathology, Chiba Cancer Center, 666-2 Nitona-Cho, Chuo-Ku, Chiba-Shi, Chiba, 260-8717, Japan. FAU - Makise, Naohiro AU - Makise N AUID- ORCID: 0000-0002-6991-747X AD - Division of Surgical Pathology, Chiba Cancer Center, 666-2 Nitona-Cho, Chuo-Ku, Chiba-Shi, Chiba, 260-8717, Japan. makise58@gmail.com. FAU - Kageyama, Hajime AU - Kageyama H AD - Division of Surgical Pathology, Chiba Cancer Center, 666-2 Nitona-Cho, Chuo-Ku, Chiba-Shi, Chiba, 260-8717, Japan. FAU - Takahashi, Tsukasa AU - Takahashi T AD - Division of Surgical Pathology, Chiba Cancer Center, 666-2 Nitona-Cho, Chuo-Ku, Chiba-Shi, Chiba, 260-8717, Japan. FAU - Katoh, Hiroshi AU - Katoh H AD - Division of Surgical Pathology, Chiba Cancer Center, 666-2 Nitona-Cho, Chuo-Ku, Chiba-Shi, Chiba, 260-8717, Japan. FAU - Odaka, Akiko AU - Odaka A AD - Division of Surgical Pathology, Chiba Cancer Center, 666-2 Nitona-Cho, Chuo-Ku, Chiba-Shi, Chiba, 260-8717, Japan. FAU - Oikawa, Mariko AU - Oikawa M AD - Division of Surgical Pathology, Chiba Cancer Center, 666-2 Nitona-Cho, Chuo-Ku, Chiba-Shi, Chiba, 260-8717, Japan. FAU - Sugiyama, Takahiro AU - Sugiyama T AD - Division of Surgical Pathology, Chiba Cancer Center, 666-2 Nitona-Cho, Chuo-Ku, Chiba-Shi, Chiba, 260-8717, Japan. FAU - Kawana, Hidetada AU - Kawana H AD - Division of Surgical Pathology, Chiba Cancer Center, 666-2 Nitona-Cho, Chuo-Ku, Chiba-Shi, Chiba, 260-8717, Japan. FAU - Araki, Akinobu AU - Araki A AD - Division of Surgical Pathology, Chiba Cancer Center, 666-2 Nitona-Cho, Chuo-Ku, Chiba-Shi, Chiba, 260-8717, Japan. FAU - Kinoshita, Hideyuki AU - Kinoshita H AD - Division of Orthopaedic Surgery, Chiba Cancer Center, Chiba, Japan. FAU - Hagiwara, Yoko AU - Hagiwara Y AD - Division of Orthopaedic Surgery, Chiba Cancer Center, Chiba, Japan. FAU - Kamoda, Hiroto AU - Kamoda H AD - Division of Orthopaedic Surgery, Chiba Cancer Center, Chiba, Japan. FAU - Yonemoto, Tsukasa AU - Yonemoto T AD - Division of Orthopaedic Surgery, Chiba Cancer Center, Chiba, Japan. FAU - Itami, Makiko AU - Itami M AD - Division of Surgical Pathology, Chiba Cancer Center, 666-2 Nitona-Cho, Chuo-Ku, Chiba-Shi, Chiba, 260-8717, Japan. LA - eng GR - JP23K06438/JSPS KAKENHI/ PT - Case Reports PT - Journal Article DEP - 20240314 PL - Germany TA - Virchows Arch JT - Virchows Archiv : an international journal of pathology JID - 9423843 RN - 0 (EWSR1 protein, human) RN - 0 (NFATC Transcription Factors) RN - 0 (NFATC2 protein, human) RN - 0 (Oncogene Proteins, Fusion) RN - 0 (RNA-Binding Protein EWS) RN - 0 (Transcription Factors) RN - 0 (NFATc2-EWSR1 fusion protein, human) SB - IM MH - Adult MH - Humans MH - Male MH - *Cytology MH - Diagnosis, Differential MH - In Situ Hybridization, Fluorescence MH - NFATC Transcription Factors/genetics MH - *Oncogene Proteins, Fusion/genetics MH - RNA-Binding Protein EWS/genetics MH - *Sarcoma/diagnosis/genetics MH - Transcription Factors/genetics OTO - NOTNLM OT - EWSR1::NFATC2 sarcoma OT - Cytology OT - Eosinophil OT - FISH OT - Immunocytochemistry OT - Metachromasia EDAT- 2024/03/14 18:42 MHDA- 2024/04/17 06:42 CRDT- 2024/03/14 12:17 PHST- 2023/12/27 00:00 [received] PHST- 2024/03/10 00:00 [accepted] PHST- 2024/02/26 00:00 [revised] PHST- 2024/04/17 06:42 [medline] PHST- 2024/03/14 18:42 [pubmed] PHST- 2024/03/14 12:17 [entrez] AID - 10.1007/s00428-024-03784-x [pii] AID - 10.1007/s00428-024-03784-x [doi] PST - ppublish SO - Virchows Arch. 2024 Mar;484(3):533-538. doi: 10.1007/s00428-024-03784-x. Epub 2024 Mar 14.