Lymphoma Research Center, Peking University Third Hospital, Beijing, China.
School of Basic Medical Sciences, Peking University Health Science Center, Beijing, China.
J Investig Med High Impact Case Rep. 2024 Jan-Dec;12:23247096241274561. doi: 10.1177/23247096241274561.
Histiocytic sarcoma (HS) is a rare hematopoietic neoplasm with an aggressive clinical course and a poor response to conventional chemotherapy. Currently, no standard treatment paradigms are available. Herein, we present a case of de novo HS treated with pembrolizumab combined with a GDP regimen (gemcitabine, cisplatin, and dexamethasone) that resulted in sustained complete remission with progression-free survival exceeding 4 years. Immunohistochemical analysis demonstrated significant overexpression of programmed death ligand 1 (PD-L1) on biopsy samples. Additionally, fluorescence in situ hybridization (FISH) with a JAK-2 probe indicated 9p24.1 amplification, suggesting reliance on the JAK-STAT pathway. Polymerase chain reaction (PCR) analysis did not reveal any BRAF-V600 mutations. Consequently, an immune checkpoint inhibitor (ICI) was administered alongside chemotherapy, resulting in sustained complete remission and progression-free survival for over 4 years. Our findings suggest that a combination of ICI and chemotherapy could represent a promising therapeutic approach for HS.
组织细胞肉瘤（HS）是一种罕见的造血系统恶性肿瘤，具有侵袭性临床病程和对常规化疗反应不佳的特点。目前，尚无标准的治疗方案。本文报告了一例新诊断的 HS 患者，接受了帕博利珠单抗联合 GDP 方案（吉西他滨、顺铂和地塞米松）治疗，获得了持续完全缓解，无进展生存期超过 4 年。免疫组化分析显示活检样本中程序性死亡配体 1（PD-L1）表达显著过表达。此外，使用 JAK-2 探针的荧光原位杂交（FISH）显示 9p24.1 扩增，提示依赖 JAK-STAT 通路。聚合酶链反应（PCR）分析未发现任何 BRAF-V600 突变。因此，在化疗的同时使用免疫检查点抑制剂（ICI），患者获得了持续完全缓解和无进展生存期超过 4 年。我们的研究结果表明，ICI 联合化疗可能是 HS 的一种有前途的治疗方法。
