PMID- 28236059 OWN - NLM STAT- MEDLINE DCOM- 20170914 LR - 20190221 IS - 1432-2307 (Electronic) IS - 0945-6317 (Linking) VI - 470 IP - 5 DP - 2017 May TI - EWSR1 rearrangement is a frequent event in papillary thyroid carcinoma and in carcinoma of the thyroid with Ewing family tumor elements (CEFTE). PG - 517-525 LID - 10.1007/s00428-017-2095-1 [doi] AB - Carcinomas of the thyroid with Ewing family tumor element (CEFTEs) are small-cell thyroid tumors with epithelial differentiation that disclose p63 expression and EWSR1-FLI1 rearrangement, carry a favorable prognosis and may co-exist with papillary thyroid carcinoma (PTC) foci. Two histogenetic hypotheses have been advanced regarding the origin of CEFTEs: arising in PTCs or in solid cell nests (SCN). A total of 3 CEFTEs, 54 PTCs, and 10 SCNs were reviewed, and fluorescence in situ hybridization (FISH) technique was performed in all cases to search for the presence of EWSR1 rearrangements. The three CEFTEs disclosed the EWSR1-FLI1 rearrangement both in the small cell and in the PTC component. Out of the 54 PTC cases, 28 (51.9%) were positive, 20 (37.0%) were negative, and 6 (11.1%) were inconclusive for EWSR1 rearrangement; in two of the positive PTC cases, the EWSR1-FLI1 rearrangement was detected. Classic PTC disclosed more often the EWSR1 rearrangement than other PTC variants (p = 0.031). PTCs with EWSR1 rearrangement disclosed a lower percentage of nuclei with EWSR1 polysomy than those without EWSR1 rearrangement (p = 0.001). Out of the 10 SCNs, 7 (70.0%) were negative and 3 (30.0%) were inconclusive for the EWSR1 rearrangement. Monosomic nuclei were more frequent (mean of 44.3%) in SCNs than in PTCs (p < 0.001). The presence of the EWSR1-FLI1 rearrangement in PTC component of all studied CEFTEs and the existence of the EWSR1 rearrangement in some PTCs favor the origin of CEFTE from PTC. The high frequency of EWSR1 rearrangements in PTC may represent a new diagnostic marker of these tumors. FAU - Oliveira, G AU - Oliveira G AD - Ipatimup Diagnostics, Institute of Molecular Pathology and Immunology of Porto University, R. Julio Amaral de Carvalho, 45, Ipatimup, 4200-135, Porto, Portugal. AD - Institute of Biomedical Science Abel Salazar-ICBAS, University of Porto, Porto, Portugal. FAU - Polonia, A AU - Polonia A AD - Ipatimup Diagnostics, Institute of Molecular Pathology and Immunology of Porto University, R. Julio Amaral de Carvalho, 45, Ipatimup, 4200-135, Porto, Portugal. AD - Medical Faculty, University of Porto, Porto, Portugal. FAU - Cameselle-Teijeiro, J M AU - Cameselle-Teijeiro JM AD - Department of Anatomic Pathology, Clinical University Hospital, Servicio Gallego de Salud (SERGAS), University of Santiago de Compostela, Santiago de Compostela, Spain. FAU - Leitao, D AU - Leitao D AD - Ipatimup Diagnostics, Institute of Molecular Pathology and Immunology of Porto University, R. Julio Amaral de Carvalho, 45, Ipatimup, 4200-135, Porto, Portugal. AD - Medical Faculty, University of Porto, Porto, Portugal. FAU - Sapia, S AU - Sapia S AD - Pathology Department, Vinalopo Hospital, Elche, Spain. AD - Pathology Department, Orebro University Hospital, Orebro, Sweden. FAU - Sobrinho-Simoes, M AU - Sobrinho-Simoes M AD - Ipatimup Diagnostics, Institute of Molecular Pathology and Immunology of Porto University, R. Julio Amaral de Carvalho, 45, Ipatimup, 4200-135, Porto, Portugal. AD - Medical Faculty, University of Porto, Porto, Portugal. AD - Anatomic Pathology Service, Centro Hospitalar de Sao Joao, Porto, Portugal. FAU - Eloy, C AU - Eloy C AD - Ipatimup Diagnostics, Institute of Molecular Pathology and Immunology of Porto University, R. Julio Amaral de Carvalho, 45, Ipatimup, 4200-135, Porto, Portugal. celoy@ipatimup.pt. AD - Medical Faculty, University of Porto, Porto, Portugal. celoy@ipatimup.pt. LA - eng PT - Journal Article DEP - 20170224 PL - Germany TA - Virchows Arch JT - Virchows Archiv : an international journal of pathology JID - 9423843 RN - 0 (EWSR1-FLI1 fusion protein, human) RN - 0 (Oncogene Proteins, Fusion) SB - IM MH - Adolescent MH - Adult MH - Aged MH - Carcinoma/*genetics/*pathology MH - Carcinoma, Papillary MH - Child MH - Female MH - Humans MH - Immunohistochemistry MH - In Situ Hybridization, Fluorescence MH - Male MH - Middle Aged MH - Oncogene Proteins, Fusion/*genetics MH - Real-Time Polymerase Chain Reaction MH - Thyroid Cancer, Papillary MH - Thyroid Neoplasms/*genetics/*pathology MH - Young Adult OTO - NOTNLM OT - EWSR1 rearrangement OT - EWSR1-FLI1 OT - Ewing sarcoma OT - Papillary thyroid carcinoma OT - Small cell carcinoma EDAT- 2017/02/27 06:00 MHDA- 2017/09/15 06:00 CRDT- 2017/02/26 06:00 PHST- 2016/09/18 00:00 [received] PHST- 2017/02/15 00:00 [accepted] PHST- 2017/01/23 00:00 [revised] PHST- 2017/02/27 06:00 [pubmed] PHST- 2017/09/15 06:00 [medline] PHST- 2017/02/26 06:00 [entrez] AID - 10.1007/s00428-017-2095-1 [pii] AID - 10.1007/s00428-017-2095-1 [doi] PST - ppublish SO - Virchows Arch. 2017 May;470(5):517-525. doi: 10.1007/s00428-017-2095-1. Epub 2017 Feb 24.