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.
英文原题:Aggressive T-large granular lymphocytic leukemia with an aberrant natural killer T-cell phenotype in an adult and derivation of a novel cell line.
Aggressive T-large granular lymphocytic leukemia with an aberrant natural killer T-cell phenotype in an adult and derivation of a novel cell line.
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侵袭性T细胞大颗粒淋巴细胞白血病是一种罕见但高度致命的临床实体,与经典大颗粒淋巴细胞白血病通常呈惰性病程形成鲜明对比。本报告详述了一例60岁出头女性患者的病例,其在住院仅3天后即死于该病,凸显了从血常规检查结果无异常到死亡仅约4个月的急剧临床过程。诊断经外周血形态学、免疫分型和分子细胞遗传学研究确认。白血病细胞表现为自然杀伤T细胞表型、克隆性T细胞受体重排及复杂核型。本病例的一个重要成果是成功建立了源自患者外周血单个核细胞的稳定细胞系。本病例强调了对这一侵袭性T细胞大颗粒淋巴细胞白血病变异型早期识别的必要性。此外,该新型细胞系为阐明这一毁灭性恶性肿瘤的潜在发病机制和探索潜在治疗策略提供了宝贵且前所未有的资源。
Aggressive T-cell large granular lymphocytic leukemia represents a rare but highly fatal clinical entity, starkly contrasting with the typically indolent nature of classic large granular lymphocytic leukemia. This report details the case of a female in her early 60s who succumbed to the disease merely 3 days after hospitalization, highlighting a precipitous clinical course from unremarkable blood test results to death within approximately 4 months.
The diagnosis was confirmed by peripheral blood morphology, immunophenotyping, and molecular cytogenetic studies. The leukemic cells demonstrated a natural killer T-cell phenotype, clonal T-cell receptor rearrangement, and a complex karyotype. A significant outcome of this case was the successful establishment of a stable cell line derived from the patient's peripheral blood mononuclear cells. This case underscores the need for early recognition of this aggressive T-cell large granular lymphocytic leukemia variant.
Furthermore, the novel cell line provides an invaluable and unprecedented resource for elucidating the underlying pathogenesis and exploring potential therapeutic strategies for this devastating malignancy.
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