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FUS-NFATC2 or EWSR1-NFATC2 fusions are present in a large proportion of simple bone cysts : a potential diagnostic pitfallPižem, Jože ...A simple bone cyst (SBC) is a benign bone lesion of unknown etiology. It can be differentiated from an aneurysmal bone cyst (ABC) by radiologic and histopathologic features, as well as by the absence ... of fusions of the USP6 gene characteristic of an ABC. In an attempt to differentiate between ABC and SBC in a recurrent bone cyst, we performed targeted RNA sequencing and found an EWSR1-NFATC2 fusion and no fusion of the USP6 gene. We subsequently analyzed additional 10 cysts, consistent with SBCs after radiologic-pathologic correlation, for the presence of an NFATC2 gene fusion, by targeted RNA sequencing, reverse-transcription polymerase chain reaction (RT-PCR) and Sanger sequencing, and fluorescent in situ hybridization. Targeted RNA sequencing showed a FUS-NFATC2 fusion in 4 of 11 SBCs and an EWSR1-NFATC2 fusion in 2 of 11 SBCs. No fusion was identified in 3 SBCs and the analysis was not successful in 2 SBCs because of the low quantity or poor quality of isolated RNA. All the 6 fusions detected by targeted RNA sequencing were confirmed by RT-PCR and Sanger sequencing, and 5 of the 6 fusions by fluorescent in situ hybridization. An additional FUS-NFATC2 fusion was identified by RT-PCR, Sanger sequencing, and fluorescent in situ hybridization in 1 of the 3 cases negative for fusions by targeted RNA sequencing. At least a large subset of SBCs represents cystic neoplasms characterized by FUS-NFATC2 or EWSR1-NFATC2 fusions, which also define a group of distinct, rare "Ewing-like" sarcomas that predominantly arise in long bones. Our results provide additional evidence of the existence of benign lesions with FUS-NFATC2 or EWSR1-NFATC2 fusions. Although they can recur locally in a nondestructive manner, their clinical course and possible relation to sarcoma with EWSR1-NFATC2 or FUS-NFATC2 fusion remains to be elucidated.Source: The American journal of surgical pathology. - ISSN 0147-5185 (Vol. 44, no. 12, Dec. 2020, str. 1623-1634)Type of material - article, component part ; adult, seriousPublish date - 2020Language - englishCOBISS.SI-ID - 29984003
Author
Pižem, Jože |
Šekoranja, Daja |
Zupan, Andrej, 1981- |
Boštjančič, Emanuela, 1979 |
Matjašič, Alenka, biologija, 1986- |
Mavčič, Blaž |
Contreras, Juan Antonio |
Gazić, Barbara |
Martinčič, David |
Snoj, Žiga, 1987- |
Limpel Novak, Katja, radiologinja |
Salapura, Vladka, 1969-
Topics
benign bone lesion |
fusions of gene |
fluorescent hybridization |
benigna lezija kosti |
fuzije genov |
fluorescentna hibridizacija
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Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
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Pižem, Jože | 26058 |
Šekoranja, Daja | 54928 |
Zupan, Andrej, 1981- | 28143 |
Boštjančič, Emanuela, 1979 | 25441 |
Matjašič, Alenka, biologija, 1986- | 35428 |
Mavčič, Blaž | 23402 |
Contreras, Juan Antonio | 28452 |
Gazić, Barbara | 20050 |
Martinčič, David | 31545 |
Snoj, Žiga, 1987- | 38837 |
Limpel Novak, Katja, radiologinja | |
Salapura, Vladka, 1969- | 36102 |
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