Ferraris A M, Canepa L, Melani C, Miglino M, Broccia G, Gaetani G F
Division of Haematology, University of Genova, Italy.
Br J Haematol. 1989 Sep;73(1):48-50. doi: 10.1111/j.1365-2141.1989.tb00218.x.
Philadelphia (Ph) chromosome-positive chronic myelogenous leukaemia (CML) was studied in a subject heterozygous for the X chromosome-linked alloenzyme system of glucose-6-phosphate dehydrogenase (G6PD). Determination of G6PD mosaicism showed homogeneous expression in granulocytes, erythrocytes and platelets. Cytogenetic studies showed the typical Ph translocation in all metaphases from bone marrow and peripheral blood myeloid cells, bcr rearrangement was detected in bone marrow and in granulocytes. B cells were stimulated with Epstein-Barr virus (EBV) in order to evaluate involvement of lymphocytes, EBV-transformed lymphoblastoid cells expressed a single G6PD phenotype and therefore probably derived from the leukaemic stem cell. However they had a normal karyotype and a constitutional bcr restriction pattern. Molecular analysis in this case of CML clarifies the differentiative potential of cells belonging to the leukaemic clone, by demonstrating that clonal Ph-negative B cells maintain normal differentiative capacity and have a bcr gene sequence which is not rearranged.
对一名葡萄糖-6-磷酸脱氢酶（G6PD）X染色体连锁同工酶系统杂合的受试者进行了费城（Ph）染色体阳性慢性粒细胞白血病（CML）研究。G6PD嵌合体测定显示在粒细胞、红细胞和血小板中表达均一。细胞遗传学研究显示来自骨髓和外周血髓细胞的所有中期细胞均有典型的Ph易位，在骨髓和粒细胞中检测到bcr重排。用爱泼斯坦-巴尔病毒（EBV）刺激B细胞以评估淋巴细胞受累情况，EBV转化的淋巴母细胞表达单一G6PD表型，因此可能源自白血病干细胞。然而，它们具有正常核型和组成性bcr限制模式。在该CML病例中的分子分析通过证明克隆性Ph阴性B细胞保持正常分化能力且具有未重排的bcr基因序列，阐明了白血病克隆细胞的分化潜能。
