Santiago-Negron Camille L, Cordero Hernández José M, Marrero-León William D, Rivera Rolón María D
Pathology and Laboratory Medicine, University of Puerto Rico, Medical Sciences Campus, San Juan, PRI.
Hematology-Oncology, San Juan Municipal Hospital, VA Caribbean Healthcare System, San Juan, PRI.
Cureus. 2025 Jun 1;17(6):e85214. doi: 10.7759/cureus.85214. eCollection 2025 Jun.
Mixed phenotype acute leukemia (MPAL) is a rare subtype of acute leukemia characterized by the expression of markers from more than one lineage. The T/myeloid subtype, especially with extramedullary involvement and fusion, is exceptionally rare and diagnostically challenging. We report a case of a 61-year-old Hispanic female patient presenting with generalized lymphadenopathy. Excisional biopsy of a left occipital lymph node showed diffuse effacement by a monomorphic population of blasts. Immunohistochemistry revealed co-expression of myeloid (partial MPO, lysozyme) and T-lineage markers (CD3, CD4, CD5, CD7). Bone marrow biopsy confirmed MPAL with extensive infiltration by CD3+, CD5+, and CD2+ cells; approximately 20-30% co-expressed CD34, CD117, and TdT. Flow cytometry supported a diagnosis of T/Myeloid MPAL. Fluorescence in situ hybridization (FISH) analysis identified rearrangement. This case highlights the importance of integrating morphology, immunophenotyping, and molecular testing to diagnose MPAL and underscores the need for clinical awareness of its varied presentations, including extramedullary disease.
混合表型急性白血病(MPAL)是急性白血病的一种罕见亚型,其特征是表达来自多个谱系的标志物。T/髓系亚型,尤其是伴有髓外受累和融合的情况,极为罕见且诊断具有挑战性。我们报告一例61岁西班牙裔女性患者,表现为全身淋巴结肿大。左枕部淋巴结切除活检显示,单形性原始细胞群体弥漫性取代原有结构。免疫组化显示髓系标志物(部分髓过氧化物酶、溶菌酶)和T谱系标志物(CD3、CD4、CD5、CD7)共表达。骨髓活检证实为MPAL,有大量CD3 +、CD5 +和CD2 +细胞浸润;约20 - 30%的细胞共表达CD34、CD117和末端脱氧核苷酸转移酶(TdT)。流式细胞术支持T/髓系MPAL的诊断。荧光原位杂交(FISH)分析确定了重排。该病例突出了整合形态学、免疫表型分析和分子检测以诊断MPAL的重要性,并强调临床需要认识到其包括髓外疾病在内的各种表现形式。