RNF43 p.G659fs 通过 PI3K/AKT/mTOR 信号通路和 HLA-E 上调导致 MSI-high 结直肠癌中 NK 细胞功能障碍
RNF43 p.G659fs leads to natural killer cell dysfunction in MSI-high colorectal cancer through PI3K/AKT/mTOR signaling and HLA-E up-regulation.
CELL INTELLIGENCE · 肿瘤细胞治疗研究
肿瘤细胞治疗研究
英文原题:Case Report: Transformation of natural killer-cell large granular lymphocytic leukemia to aggressive natural killer cell leukemia.
Case Report: Transformation of natural killer-cell large granular lymphocytic leukemia to aggressive natural killer cell leukemia.
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大颗粒淋巴细胞白血病(LGLL)是一种罕见的克隆性增殖病,由细胞毒性T淋巴细胞(CTL)和自然杀伤(NK)细胞构成,特征为外周血大颗粒淋巴细胞(LGL)持续扩增超过6个月。根据2022年世界卫生组织(WHO)分类,LGLL分为T-LGLL和NK大颗粒淋巴细胞白血病(NK-LGLL)。侵袭性NK细胞白血病(ANKL)作为独立于LGLL的成熟T细胞和NK细胞白血病,也具有大颗粒淋巴细胞的形态特征。本报告描述一例NK-LGLL转化为ANKL的罕见病例。该病例凸显LGLL鉴别诊断的必要性,并提示蛋白酶体抑制剂联合免疫检查点抑制剂可能是治疗ANKL的有前景策略。
Large Granular Lymphocytic Leukemia (LGLL) is a rare clonal proliferative disorder of cytotoxic T lymphocytes (CTL) and natural killer (NK) cells, characterized by persistent expansion of large granular lymphocytes (LGLs) in peripheral blood for over six months. According to the 2022 World Health Organization (WHO) classification, LGLL is categorized into T-LGLL, NK-large granular lymphocytic leukemia (NK-LGLL).
Aggressive natural killer cell leukemia (ANKL), as a Mature T-cell and NK-cell leukemia independent of LGLL, also has morphologic characteristics of large granular lymphocytes. This report describes a rare case of NK-LGLL transforming into ANKL. This case highlights the necessity of differential diagnosis in LGLL and suggests that proteasome inhibitors combined with immune checkpoint inhibitors may represent a promising therapeutic strategy for ANKL.
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