Pawar Ravikiran N, Banerjee Sambhunath, Bramha Subhajit, Krishnan Shekhar, Bhattacharya Arpita, Saha Vaskar, Chakrapani Anupam, Bhave Saurabh, Chandy Mammen, Nair Reena, Parihar Mayur, Arora Neeraj, Mishra D K
Department of Laboratory Haematology and Molecular Genetics, Tata Medical Centre, Kolkata, West Bengal, India.
Department of Clinical Haematology, Tata Medical Centre, Kolkata, West Bengal, India.
Indian J Pathol Microbiol. 2017 Jan-Mar;60(1):43-49. doi: 10.4103/0377-4929.200057.
Mixed-phenotype acute leukemias (MPALs) are a heterogeneous group of rare leukemias constituting approximately 2%-5% of all leukemias, in which assigning a single lineage of origin is not possible. They are diagnosed by either the presence of antigens of more than one lineage or by the presence of dual population of blasts belonging to two or more lineages. We highlight the clinicopathological, immunophenotype, and genetic data of a cohort (n = 14) of patients diagnosed and treated at our center.
We retrospectively analyzed consecutive cases of MPAL diagnosed in our flow cytometry laboratory from May 2012 to August 2015. These cases were diagnosed based on immunophenotyping of peripheral blood/bone marrow aspirates and morphology/genetics wherever available as per the World Health Organization (WHO) 2008 guideline.
Among 628 consecutive acute leukemia (AL) cases diagnosed and evaluated during this period, we identified 14 (2.2%) patients with MPAL fulfilling WHO 2008/EGIL criteria for immunological characterizing of AL criteria. Majority of these were males (n = 8, male:female ratio 1.3:1) and adults (n = 11, 78.5%). The median age of this cohort was 41 years (range 2-80). These cases were further classified as: B/myeloid (n = 9), T/myeloid (n = 4), and B/T MPAL (n = 1). Cytogenetics was available in 12 out of 14 cases, out of which, three cases had normal karyotype, three with t(9;22)(q34;q11), and two cases with complex karyotype. We also came across a rare case of B + T lymphoid MPAL who had mixed-lineage leukemia gene t(v; 11q23) rearrangement.
MPAL is a complex entity with heterogeneous clinical, immunophenotypic, cytogenetic, and molecular features. Multiparametric flowcytometry by using comprehensive antibody panels is a valuable tool for diagnosis. Subsequent cytogenetic and molecular analysis for further prognostic stratification and treatment modalities are important.
混合表型急性白血病(MPALs)是一组异质性的罕见白血病,约占所有白血病的2%-5%,无法确定其单一的起源谱系。通过存在一种以上谱系的抗原或存在属于两个或更多谱系的双群母细胞来诊断。我们重点介绍了在我们中心诊断和治疗的一组(n = 14)患者的临床病理、免疫表型和基因数据。
我们回顾性分析了2012年5月至2015年8月在我们流式细胞术实验室诊断的MPAL连续病例。这些病例根据外周血/骨髓穿刺液的免疫表型以及根据世界卫生组织(WHO)2008年指南在可获得的情况下的形态学/遗传学进行诊断。
在此期间诊断和评估的628例连续急性白血病(AL)病例中,我们确定了14例(2.2%)符合WHO 2008/EGIL AL免疫特征标准的MPAL患者。其中大多数为男性(n = 8,男:女比例为1.3:1)且为成年人(n = 11,78.5%)。该队列的中位年龄为41岁(范围2-80岁)。这些病例进一步分类为:B/髓系(n = 9)、T/髓系(n = 4)和B/T MPAL(n = 1)。14例病例中有12例可进行细胞遗传学分析,其中3例核型正常,3例为t(9;22)(q34;q11),2例为复杂核型。我们还遇到了1例罕见的B + T淋巴样MPAL病例,其具有混合谱系白血病基因t(v;11q23)重排。
MPAL是一个具有异质性临床、免疫表型、细胞遗传学和分子特征的复杂实体。使用综合抗体组合的多参数流式细胞术是诊断的重要工具。随后进行细胞遗传学和分子分析以进一步进行预后分层和确定治疗方式很重要。