Au Wing-Yan, Chow Chit, To Ka-Fai, Ma Edmond S K, Yeung Eugene C L, Yip Wai-Lun, Chan Helen M H, Gill Harinder
Blood-Med Clinic, Central, Hong Kong.
Department of Anatomical and Cellular Pathology, the Chinese University of Hong Kong, Ma Liu Shui, Hong Kong.
Ann Hematol. 2025 Mar;104(3):2023-2025. doi: 10.1007/s00277-024-06042-x. Epub 2024 Nov 12.
Acute leukemia with TCF3::ZNF384 is a distinct type of acute leukemia that present most commonly as B-acute lymphoblastic leukemia or mixed-phenotype acute leukemia (B/myeloid). We report the first case of TCF3::ZNF384 mixed-phenotype leukemia presenting as isolated extramedullary disease in the mediastinum. Diagnosis using RNA-sequencing and whole genome sequencing on the primary issue is illustrated.
伴有TCF3::ZNF384的急性白血病是一种独特类型的急性白血病，最常表现为B淋巴细胞白血病或混合表型急性白血病（B/髓系）。我们报告了首例表现为纵隔孤立性髓外疾病的TCF3::ZNF384混合表型白血病病例。阐述了对原发组织使用RNA测序和全基因组测序进行诊断的情况。
