研究动态
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颌骨囊肿中没有NFATC2融合。

No NFATC2 fusion in simple bone cyst of the jaw.

发表日期:2023 Mar 20
作者: Sheena L M Ong, Isadora P Gomes, Hans J Baelde, Fabricio Passador-Santos, Bruno A B de Andrade, Inge H Briaire-de Bruijn, Israel L Cavalcante, Willem H Schreuder, Anne-Marie Cleton-Jansen, Arjen H G Cleven, Karoly Szuhai, Carolina C Gomes, Judith V M G Bovée
来源: HISTOPATHOLOGY

摘要:

简单骨囊肿(SBC)主要发生在长骨中,并且其中59%携带NFATC2重排。颌骨SBC很少见,以前被称为创伤性骨囊肿。它可能与牙骨发育不良(COD)有关联。为了确定颌骨SBC是否代表与长骨SBC相同的实体,或者它们是否具有不同的分子标记,我们收集了47名患者的48例颌骨SBC病例,以评估NFATC2重排。48例中,36例可以用荧光原位杂交(FISH) 进行测试。 其中9例(其中两例与COD相关)使用NFATC2分离探针成功。其他病例无法显示足够的FISH信号。所有9例缺乏NFATC2重排,其中5例显示没有使用Archer FusionPlex检测到基因融合。在我们的研究中,孤立的颌骨SBC(n = 7)和COD相关的SBC(n = 2)中均缺乏NFATC2重排。我们的发现表明,发生在颌骨的SBC与长骨SBC在分子上有所不同。未来的分子研究可以确认颌骨SBC中无克隆分子异常,这将支持非肿瘤性反应性起源的观点。©2023年作者。由John Wiley&Sons Ltd出版的组织病理学。
Simple Bone Cysts (SBCs) predominantly occur in long bones and 59% harbour NFATC2 rearrangements. Jaw SBC is rare and was previously referred to as traumatic bone cyst. It can rarely occur in association with cemento-osseous dysplasia (COD). To determine whether jaw SBCs represent the same entity as SBC of the long bones, or if they have a different molecular signature, we collected 48 jaw SBC cases of 47 patients to assess NFATC2 rearrangement.Out of the 48 cases, 36 could be used for fluorescence in-situ hybridization (FISH), of which nine (two of which associated with COD) were successful using an NFATC2 split probe. The remaining cases failed to show adequate FISH signals. All nine cases lacked NFATC2 rearrangement and five of these showed no detectable gene fusions using Archer FusionPlex.In our study, NFATC2 rearrangement is absent in solitary jaw SBC (n = 7) and COD-associated SBC (n = 2). Our findings suggest that SBC presenting in the jaw is molecularly different from SBC in long bones. Future molecular studies may confirm the absence of clonal molecular aberrations in SBC of the jaw which would support a non-neoplastic, reactive origin.© 2023 The Authors. Histopathology published by John Wiley & Sons Ltd.