Michiels J J, Prins M E, Hagermeijer A, Brederoo P, van der Meulen J, van Vliet H H, Abels J
Department of Hematology, Academic Hospital Dijkzigt, Rotterdam, The Netherlands.
Am J Clin Pathol. 1987 Nov;88(5):645-52. doi: 10.1093/ajcp/88.5.645.
A case of well-documented and -illustrated megakaryoblastic transformation is described in a patient with thrombocythemia passing through a stage of myelofibrosis without features of chronic granulocytic leukemia. Immunocytologic studies with the use of conventional and monoclonal antibodies against platelet membrane glycoproteins and electron microscopic investigations, demonstrating bull's-eye granules and platelet peroxidase positivity, proved the megakaryocytic differentiation of the blast cells. From the onset of the disease as well as during the megakaryoblastic transformation, the Philadelphia (Ph1) karyotype, 46XX t(9:22) (q34:q11), was found in peripheral blood and bone marrow cells as the only clonal abnormality. Southern blot analysis of DNA extracted from the blast cells revealed a rearrangement within the bcr on chromosome 22 similar to findings in chronic granulocytic leukemia. The presentation with excessive small and abnormal megakaryocytes in the initial and subsequent bone marrow and the rapid progressive myelofibrosis and splenomegaly differentiate the Ph1 chromosome-positive thrombocythemia from the chronic myeloproliferation of thrombocythemia in its primary form or associated with polycythemia vera.
本文描述了一例记录和图示详实的巨核母细胞转化病例，患者为血小板增多症，病程中经历了骨髓纤维化阶段，无慢性粒细胞白血病特征。使用针对血小板膜糖蛋白的传统抗体和单克隆抗体进行免疫细胞研究，以及电子显微镜检查显示靶心颗粒和血小板过氧化物酶阳性，证实了原始细胞的巨核细胞分化。从疾病发作到巨核母细胞转化期间，外周血和骨髓细胞中均发现费城（Ph1）核型，即46XX t(9:22) (q34:q11)，这是唯一的克隆性异常。对原始细胞提取的DNA进行Southern印迹分析，发现22号染色体上bcr内的重排，类似于慢性粒细胞白血病的发现。初始及后续骨髓中出现过多的小而异常的巨核细胞，以及快速进展的骨髓纤维化和脾肿大，将Ph1染色体阳性的血小板增多症与原发性血小板增多症或与真性红细胞增多症相关的慢性骨髓增殖性血小板增多症区分开来。
