Hiemcke-Jiwa Laura S, van Gorp Joost M, Fisher Cyril, Creytens David, van Diest Paul J, Flucke Uta
Princess Maxima Center for Pediatric Oncology, Utrecht, The Netherlands.
Utrecht University Hospital, Utrecht, The Netherlands.
Int J Surg Pathol. 2020 Dec;28(8):816-825. doi: 10.1177/1066896920938878. Epub 2020 Jul 8.
Nearly 20 years ago, the first description of a translocation involving chromosome 17 on which resides was described. Since then, not only the culprit gene but also many fusion partners, leading to transcriptional activation of , have been detected. The first neoplasm known to harbor rearrangements was aneurysmal bone cyst. Since then, other entities like nodular fasciitis, myositis ossificans, fibro-osseous pseudotumor of digits, and a subgroup of fibromas of tendon sheath, probably representing tenosynovial nodular fasciitis, have been added to the list of -rearranged lesions. Remarkably, all of them share clinical as well as morphological characteristics, and authors have suggested that these entities actually belong to the same spectrum. This review summarizes the current knowledge regarding -rearranged lesions and further elaborates on how these neoplasms relate to one another. We propose to call these lesions UAN (-associated neoplasm).
近20年前,首次描述了涉及17号染色体的易位情况。从那时起,不仅发现了罪魁祸首基因,还检测到了许多导致其转录激活的融合伙伴。已知存在该重排的首个肿瘤是动脉瘤样骨囊肿。从那时起,其他实体如结节性筋膜炎、骨化性肌炎、指部纤维骨性假瘤以及腱鞘纤维瘤的一个亚组(可能代表腱鞘结节性筋膜炎)也被列入了该重排病变的清单。值得注意的是,它们都具有临床和形态学特征,作者们认为这些实体实际上属于同一谱系。本综述总结了关于该重排病变的当前知识,并进一步阐述了这些肿瘤之间的相互关系。我们建议将这些病变称为UAN(相关肿瘤)。