Khanlari Mahsa, Wang Lu, Bolen Christine Y, Otanez Felipe Sebastian Bautista, Furtado Larissa V, Key Laura, Irwin Lisa, Wang Wei, Klco Jeffery M
Department of Pathology St. Jude Children's Research Hospital Memphis Tennessee USA.
Department of Oncology Novant Health Presbyterian Medical Center Charlotte North Carolina USA.
EJHaem. 2023 Jun 26;4(3):765-769. doi: 10.1002/jha2.741. eCollection 2023 Aug.
Herein, we present a rare case of acute myeloid leukemia (AML) with CBFA2T3-rearrangement and the expression of megakaryocytic and lymphoid markers, highlighting the need for a high suspicion index in differential diagnosis and applying adequate workup to avoid misdiagnosing this entity. -positive AML is primarily found in infants with non-down syndrome acute megakaryoblastic leukemia (non-DSAMKL). Flow cytometry immunophenotyping plays an important role in recognizing the unique immunophenotype of bright CD56 expression with dim/negative expression of HLA-DR, CD38, and CD45 termed the RAM immunophenotype in this entity. Still, CBFA2T3::GLIS2-positive acute leukemia with T/megakaryocytic markers could be misdiagnosed as T-lymphoblastic leukemia/lymphoma, early T-cell precursor acute lymphoblastic leukemia/lymphoma, NK lymphoblastic leukemia, AML with minimal differentiation, or AML with myelodysplasia-related changes.
在此，我们报告一例罕见的伴有CBFA2T3重排以及巨核细胞和淋巴细胞标志物表达的急性髓系白血病（AML），强调在鉴别诊断中需要高度怀疑指数并进行充分检查以避免误诊该实体。CBFA2T3阳性AML主要见于非唐氏综合征急性巨核细胞白血病（non-DSAMKL）患儿。流式细胞术免疫表型分析在识别该实体中具有独特免疫表型（即明亮的CD56表达伴HLA-DR、CD38和CD45的低表达/阴性表达，称为RAM免疫表型）方面发挥着重要作用。然而，伴有T/巨核细胞标志物的CBFA2T3::GLIS2阳性急性白血病可能会被误诊为T淋巴细胞母细胞白血病/淋巴瘤、早期T细胞前体急性淋巴细胞白血病/淋巴瘤、NK淋巴细胞白血病、微分化AML或伴有骨髓增生异常相关改变的AML。
