Alshomrani Ahmad, Laye Richard, Gupta Neha
Department of Pathology, Microbiology, and Immunology University of Nebraska Medical Center, Omaha, NE, USA.
College of Medicine, Department of Hematology and Immunology, Umm-Al-Qura University, Al-Qunfudah, Makkah, Saudi Arabia.
J Hematop. 2024 Dec;17(4):275-279. doi: 10.1007/s12308-024-00613-7. Epub 2024 Nov 25.
Chronic myeloid leukemia (CML) typically presents in the chronic phase. The blast crisis phase in CML predominantly comprises the myeloid phenotype, while B-cell lymphoblastic crisis is common among the lymphoid lineages. Presentation as a T-lymphoblastic crisis is exceptionally rare. Little is known about its characteristics, treatment, and prognosis. This case study reports a patient who presented as an extramedullary blast crisis with T-lymphoblastic immunophenotype without a known prior diagnosis of CML. We performed hematoxylin and eosin staining, immunohistochemistry on the inguinal lymph node, and bone marrow biopsy. Ancillary studies including flow cytometry and cytogenetic testing were conducted as needed. BCR::ABL1 is quantitative real-time polymerase chain reaction monitored disease progression. Our patient is a 40-year-old male with no previous medical history who presented with neck stiffness and pain of one week in duration. Clinical evaluation revealed diffuse lymphadenopathy and splenomegaly. A biopsy from the inguinal lymph node revealed T-lymphoblastic lymphoma (T-LBL) (90%) and a population of myeloblasts (10%). Subsequent bone marrow biopsy showed myelocyte expansion, dwarf megakaryocytes, scattered myeloblasts (9%), and T-lymphoblasts (6%). Flow cytometry of the bone marrow aspirate revealed myeloblasts (5.4%) and T-lymphoblasts (6.3%). Genetic and molecular studies identified the BCR-ABL1 fusion. This case contributes to the medical literature by documenting a rare occurrence of extramedullary T-LBL with concurrent CML. The absence of a CML history makes the diagnosis particularly challenging and underscores the need for comprehensive and personalized treatment strategies.
慢性髓性白血病（CML）通常呈慢性期表现。CML的急变期主要为髓系表型，而B细胞淋巴细胞急变在淋巴系中较为常见。表现为T淋巴细胞急变极为罕见。关于其特征、治疗及预后知之甚少。本病例报告了一名患者，其表现为髓外急变期，具有T淋巴细胞免疫表型，之前无CML的已知诊断。我们对腹股沟淋巴结进行了苏木精-伊红染色、免疫组织化学检查及骨髓活检。根据需要进行了包括流式细胞术和细胞遗传学检测在内的辅助研究。通过定量实时聚合酶链反应监测疾病进展的BCR::ABL1。我们的患者是一名40岁男性，既往无病史，出现颈部僵硬和疼痛1周。临床评估发现弥漫性淋巴结病和脾肿大。腹股沟淋巴结活检显示T淋巴细胞淋巴瘤（T-LBL）（90%）和一群原粒细胞（10%）。随后的骨髓活检显示有髓细胞增生、小巨核细胞、散在的原粒细胞（9%）和T淋巴细胞（6%）。骨髓穿刺液的流式细胞术显示原粒细胞（5.4%）和T淋巴细胞（6.3%）。基因和分子研究鉴定出BCR-ABL1融合。本病例通过记录罕见的并发CML的髓外T-LBL病例，为医学文献做出了贡献。无CML病史使得诊断极具挑战性，并强调了全面和个性化治疗策略的必要性。
