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
髓系/NK 细胞前体白血病中的 ZMYND11::MBTD1 融合：病例报告、文献复习及诊断意义
英文原题：ZMYND11::MBTD1 Fusion in Myeloid/NK Cell Precursor Leukemia: A Case Report With Literature Review and Diagnostic Implications.
查看英文原题
ZMYND11::MBTD1 Fusion in Myeloid/NK Cell Precursor Leukemia: A Case Report With Literature Review and Diagnostic Implications.
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中文摘要
髓系/NK细胞前体白血病（MNKPL）是一种罕见且侵袭性强的疾病，因其标志物重叠（CD7⁺、CD13/CD33⁺、CD56⁺、髓过氧化物酶[MPO]阴性），常被误诊为急性髓系白血病（AML）或侵袭性NK细胞白血病（ANKL）。我们报告一例最初诊断为ANKL的患者；后续流式细胞术复评显示CD7⁺、CD13⁺、CD33⁺、CD34⁺、CD56⁺、CD117⁺、MPO⁻，支持MNKPL诊断。RNA测序和巢式PCR检出框内ZMYND11::MBTD1融合。对已发表的ZMYND11::MBTD1白血病病例（n=5）进行综述后发现，其免疫表型与MNKPL高度一致，提示此前可能存在误分类。这些发现支持ZMYND11::MBTD1是MNKPL的复发性遗传病变，并可作为诊断和治疗选择的实用依据。
展开英文摘要原文
Myeloid/NK cell precursor leukemia (MNKPL) is a rare, aggressive entity often misdiagnosed as acute myeloid leukemia (AML) or aggressive NK cell leukemia (ANKL) because of overlapping markers (CD7 + , CD13/CD33 + , CD56 + , myeloperoxidase [MPO]-).
We report a patient initially diagnosed with ANKL; subsequent flow-cytometric reevaluation (CD7 + , CD13 + , CD33 + , CD34 + , CD56 + , CD117 + , MPO - ) supported a diagnosis of MNKPL. RNA sequencing and nested PCR identified an in-frame ZMYND11::MBTD1 fusion. A review of published ZMYND11::MBTD1 leukemias (n = 5) found immunophenotypes highly consistent with MNKPL, suggesting prior misclassification.
These findings support ZMYND11::MBTD1 as a recurrent lesion in MNKPL and a practical aid to diagnosis and treatment selection.
论文信息
- 作者
- Liang H、Su X、Chen P、Zhao S、Gao L、Du Z、Cheng S、Miao J
- 单位
- Department of Hematology, Children's Hospital of Soochow University, Suzhou, China.China
- 文献类型
- 病例报告 · 综述
- 期刊
- Pediatric blood & cancer2026 Feb
- 原文标识
- PubMed 41454826 · DOI 10.1002/1545-5017.70044