骨上皮样血管瘤是一种罕见的良性,局部侵袭性血管肿瘤,鉴于其频繁的多病灶性,诊断特别具有挑战性,非特异性影像学发现,和广泛的形态表现。此外,一些上皮样血管瘤表现出不典型的组织学特征,包括细胞增多,坏死,和中度细胞学异型性-可能引起恶性肿瘤关注的特征。分子研究可以作为一个强大的,在诊断上具有挑战性的上皮样血管肿瘤的鉴别诊断中的客观工具。重要的是,FOS和FOSB基因重排已被确定为骨上皮样血管瘤的遗传标志,超过70%的病例。FOSB融合阳性上皮样血管瘤,特别是,可能显示不典型的组织学特征。虽然ZFP36是上皮样血管瘤的典型FOSB融合伙伴,我们在此介绍一例罕见的WWTR1::FOSB融合骨上皮样血管瘤。该病例显示了与上皮样血管瘤相关的诊断挑战,特别是在FOSB基因重排的背景下,以及基因组研究在这些血管肿瘤研究中的重要性。
Epithelioid hemangioma of bone is a rare benign, locally aggressive vascular tumor that can be particularly challenging to diagnose given its frequent multifocality, non-specific imaging findings, and wide range of morphologic appearances. Additionally, some epithelioid hemangiomas demonstrate atypical histologic features including increased cellularity, necrosis, and moderate cytologic atypia - characteristics that may raise concern for malignancy. Molecular studies can serve as a powerful, objective tool in the differential diagnosis of diagnostically challenging epithelioid vascular tumors. Importantly, FOS and FOSB gene rearrangements have been identified as the genetic hallmarks of osseous epithelioid hemangioma, present in greater than 70% of cases. FOSB-fusion-positive epithelioid hemangioma, in particular, may display atypical histologic features. While ZFP36 is the typical FOSB fusion partner in epithelioid hemangioma, we herein present a
case of epithelioid hemangioma of bone with a rare
WWTR1::FOSB fusion. This
case demonstrates the diagnostic challenges associated with epithelioid hemangioma, especially in the setting of FOSB gene rearrangements, and the importance of genomic studies in the work up of these vascular tumors.