Scolnik M P, Aranguren P Negri, Cuello M T, Palacios M F, Sanjurjo J, Giunta M, Bracco M M E, Acevedo S
IIHEMA, Academia Nacional de Medicina de Buenos Aires.
Leuk Lymphoma. 2005 Apr;46(4):607-10. doi: 10.1080/10428190412331272730.
Biphenotypic acute leukemias (BAL) represent 5% of all acute leukemias. The most frequent cytogenetic abnormalities described are Philadelphia chromosome and 11q23 involvement. Here we report a BAL case, with blasts showing lymphoblast morphology and positivity for myeloperoxidase (in 6% of the blast cells). Immunophenotype revealed the compromise of myeloid and B-lymphoid lineages. Cytogenetic analysis showed the t(15;17) and 8 trisomy. PML/RARa rearrangement was detected by fluorescent in situ hybridization (FISH) on interphase nuclei while PML/RARa fusion transcript was detected in the bone marrow and peripheral blood by molecular biology studies (RT-PCR). This report describes a BAL case with an unfrequent cytogenetic abnormality, and highlights the importance of correlating the results of multiple diagnostic methods in order to establish a correct diagnosis and treatment in BAL patients.
双表型急性白血病（BAL）占所有急性白血病的5%。所描述的最常见细胞遗传学异常是费城染色体和11q23受累。我们在此报告1例BAL病例，其原始细胞表现为淋巴母细胞形态且髓过氧化物酶呈阳性（在6%的原始细胞中）。免疫表型显示髓系和B淋巴细胞系均受累。细胞遗传学分析显示t(15;17)和8三体。通过间期核荧光原位杂交（FISH）检测到PML/RARa重排，而通过分子生物学研究（RT-PCR）在骨髓和外周血中检测到PML/RARa融合转录本。本报告描述了1例具有罕见细胞遗传学异常的BAL病例，并强调了关联多种诊断方法结果对于BAL患者正确诊断和治疗的重要性。
