Abstract：
OBJECTIVE: 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.
RESULTS: 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.
CONCLUSIONS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
目的：单纯性骨囊肿（SBC）主要发生在长骨中，59%有NFATC2重排。颌骨SBC很少见，以前被称为创伤性骨囊肿。它很少与骨水泥发育不良（COD）相关。要确定下颌SBC是否代表与长骨的SBC相同的实体，或者如果它们有不同的分子特征，我们收集了47例患者的48例颌骨SBC，以评估NFATC2重排。
结果：在48例中，36可用于荧光原位杂交（FISH），其中9个(其中两个与COD相关)使用NFATC2分裂探针成功。其余病例未能显示足够的FISH信号。所有9例病例均缺乏NFATC2重排，其中5例使用ArcherFusionPlex未显示可检测的基因融合。
结论：在我们的研究中，孤颌SBC（n=7）和COD相关SBC（n=2）中不存在NFATC2重排。我们的发现表明，颌骨中出现的SBC与长骨中的SBC在分子上不同。未来的分子研究可能会证实颌骨SBC中不存在克隆分子像差，这将支持非肿瘤性，反应起源。
结果：在48例中，36可用于荧光原位杂交（FISH），其中9个(其中两个与COD相关)使用NFATC2分裂探针成功。其余病例未能显示足够的FISH信号。所有9例病例均缺乏NFATC2重排，其中5例使用ArcherFusionPlex未显示可检测的基因融合。
结论：在我们的研究中，孤颌SBC（n=7）和COD相关SBC（n=2）中不存在NFATC2重排。我们的发现表明，颌骨中出现的SBC与长骨中的SBC在分子上不同。未来的分子研究可能会证实颌骨SBC中不存在克隆分子像差，这将支持非肿瘤性，反应起源。
