PDF(Pubmed)
Abstract：
This case report describes the diagnostic and therapeutic challenges faced in managing an elderly diabetic man with BCOR-rearranged sarcoma, a rare, aggressive malignancy. The patient presented with neck swelling, initially suspected to be a high-grade lymphoma but later found to be undifferentiated small round cell sarcoma. Further investigations with PET-CT revealed a mass in the lower abdomen, leading us to reconsider the prior diagnosis of non-Hodgkins\' lymphoma. Subsequent biopsies from an abdominal deposit indicated a high-grade round cell sarcoma with differentials including BCOR-CCNB3 fusion/BCOR-ITD sarcoma, CIC-DUX4 fusion sarcoma, and EWSR-non-ETS fusion sarcoma. A second opinion from a dedicated oncopathology lab confirmed the diagnosis of BCOR-rearranged sarcoma. The patient underwent exploratory laparotomy and diversion stoma but developed complications post-surgery. Due to the advanced stage and extensive metastases, the patient opted for supportive care due to poor outcomes with treatment. This case underscores the importance of raising awareness and conducting further research to improve the management of rare malignancies like BCOR-rearranged sarcoma.
摘要：
该病例报告描述了治疗患有BCOR重排肉瘤的老年糖尿病患者所面临的诊断和治疗挑战。一种罕见的，侵袭性恶性肿瘤.病人表现为颈部肿胀，最初怀疑是高级别淋巴瘤，但后来发现是未分化的小圆细胞肉瘤。PET-CT进一步检查发现下腹部有肿块，导致我们重新考虑非霍奇金淋巴瘤的先前诊断。随后从腹部沉积物中进行的活检显示具有差异的高级圆形细胞肉瘤，包括BCOR-CCNB3融合/BCOR-ITD肉瘤，CIC-DUX4融合肉瘤,和EWSR-非ETS融合肉瘤.来自专门的肿瘤病理学实验室的第二种意见证实了BCOR重排肉瘤的诊断。患者接受了剖腹探查术和分流造口，但术后出现并发症。由于晚期和广泛的转移，由于治疗效果不佳,患者选择了支持治疗.此病例强调了提高认识和进行进一步研究以改善BCOR重排肉瘤等罕见恶性肿瘤的管理的重要性。
