间叶性软骨肉瘤是一种罕见但致命的软骨肉瘤,通常影响青少年和年轻人。虽然对于患有局部疾病的患者来说,治愈意图是可能的,对于无法切除/转移的患者,几乎没有选择。因此,有必要了解这种罕见的恶性肿瘤的融合驱动的生物学特性,从而导致未来开发更好的治疗该疾病的方法。本手稿将简要回顾间充质软骨肉瘤的临床和病理特征,然后评估与融合相关的现有数据,HEY1-NCOA2和IRF2BP2-CDX1,以及相关的下游途径。
Mesenchymal chondrosarcoma is a rare but deadly form of chondrosarcoma that typically affects adolescents and young adults. While curative intent is possible for patients with localized disease, few options exist for patients in the unresectable/metastatic setting. Thus, it is imperative to understand the fusion-driven biology of this rare malignant neoplasm so as to lead to the future development of better therapeutics for this disease. This manuscript will briefly
review the clinical and pathologic features of mesenchymal chondrosarcoma followed by an appraisal of existing data linked to the fusions, HEY1-NCOA2 and
IRF2BP2-CDX1, and the associated downstream pathways.