文章：

B细胞标志物表达与急性髓系白血病中RUNX1病变的关联，超越RUNX1::RUNX1T1融合：与混合表型急性白血病—B/髓系的诊断陷阱

Association Between B-Cell Marker Expression andRUNX1Lesions in Acute Myeloid Leukemia, BeyondRUNX1::RUNX1T1Fusion: Diagnostic Pitfalls with Mixed-Phenotype Acute Leukemia—B/Myeloid

原文发布日期：18 April 2025

DOI: 10.3390/cancers17081354

类型: Article

开放获取: 是

英文摘要：

Acute myeloid leukemia (AML) withRUNX1::RUNX1T1fusion is well known to often demonstrate aberrant upregulation of CD19 expression. We studied the clinicopathologic and genetic features of 16 cases of AML with variousRUNX1lesions, including mutations, copy number gains, and translocations other than fusions withRUNX1T1. Most of these cases were classified as AML-myelodysplasia-related or AML-post-cytotoxic therapy based on the cytogenetic and molecular work-up. These neoplasms showed partial expression of one or more B-cell antigens by flow cytometry and/or immunohistochemistry, fulfilling the criteria for mixed-phenotype acute leukemia (MPAL)-B/myeloid (i.e., ≥20% blasts expressing B and myeloid lineage antigens) in most cases. These findings suggest that AML cases withRUNX1lesions including mutations, copy number gains, and translocations other thanRUNX1T1fusion, also commonly express B-cell markers, imparting a “mixed-lineage-like” immunophenotype in cases of AML that otherwise fulfill the criteria for other defined subtypes. We present these cases as to caution regarding this potential diagnostic pitfall and favor a diagnosis of AML withRUNX1lesion(s) in the setting of a case of AML with myeloid/B-cell antigen expression, a history of myelodysplasia or cytotoxic therapy, the demonstration of pDC differentiation by flow cytometry (generally associated with the presence of aRUNX1mutation), and the presence of aRUNX1lesion (mutation, copy number gain, and/or translocation exclusive of a rearrangement withRUNX1T1).

摘要翻译： 

伴有RUNX1::RUNX1T1融合的急性髓系白血病（AML）通常表现出CD19表达异常上调已广为人知。本研究分析了16例伴有不同类型RUNX1病变（包括突变、拷贝数增加以及与RUNX1T1融合无关的易位）的AML病例的临床病理和遗传学特征。根据细胞遗传学和分子学检测结果，这些病例大多被归类为AML伴骨髓增生异常相关或AML继发于细胞毒性治疗。通过流式细胞术和/或免疫组织化学检测，这些肿瘤均显示一种或多种B细胞抗原的部分表达，在大多数病例中符合混合表型急性白血病（MPAL）-B/髓系（即≥20%原始细胞同时表达B细胞和髓系抗原）的诊断标准。这些发现表明，伴有RUNX1病变（包括突变、拷贝数增加以及与RUNX1T1融合无关的易位）的AML病例也常表达B细胞标志物，使得本应符合其他特定亚型诊断标准的AML病例呈现出“混合谱系样”免疫表型。我们提出这些病例旨在警示这一潜在的诊断误区，并建议在以下情况时应优先考虑诊断为伴有RUNX1病变的AML：当AML病例出现髓系/B细胞抗原共表达、有骨髓增生异常或细胞毒性治疗史、流式细胞术检测显示浆细胞样树突状细胞分化（通常与RUNX1突变相关），且存在RUNX1病变（突变、拷贝数增加和/或排除了与RUNX1T1重排的易位）。

原文链接：

Association Between B-Cell Marker Expression andRUNX1Lesions in Acute Myeloid Leukemia, BeyondRUNX1::RUNX1T1Fusion: Diagnostic Pitfalls with Mixed-Phenotype Acute Leukemia—B/Myeloid