Hernández J M, González-Sarmiento R, Martin C, González M, Sánchez I, Corral J, Orfao A, Cañizo M C, San Miguel J F, López-Borrasca A
Servicio de Hematología, Hospital Clínico, Salamanca, Spain.
Br J Haematol. 1991 Nov;79(3):408-14. doi: 10.1111/j.1365-2141.1991.tb08048.x.
We have studied phenotypic and clinical features in a consecutive series of 45 patients with chronic myelogenous leukaemia (CML) in blast crisis (BC). In addition, in 22 of these patients we have analysed the genotypic characteristics including immunoglobulin, T-cell receptor (TCR) and major breakpoint cluster region (M-bcr) gene organization. The granulomonocytic and megakaryoblastic lineages are the most commonly involved in these BC of CML (33% and 33% of cases, respectively); only 18% of our cases displayed a lymphoid phenotype. Moreover, both morphological and immunophenotypic studies revealed the frequent coexistence of two or three cell populations, especially when the megakaryoblast component is involved. The lymphoid BC displayed the highest incidence of complete remissions although this was not associated with a longer survival. Only minor differences between the different myeloid subgroups were observed. Immunoglobulin heavy chain (IgH) gene rearrangement was found in five of the six lymphoid BC and in one myeloid BC. Only one case showed k light chain gene rearrangement. In all but one myeloid BC the TCR-beta gene was in germline configuration. The TCR-gamma gene was rearranged in all lymphoid and one myeloid BC, while TCR-delta gene rearrangement was detected in 67% and 16% of the lymphoid and myeloid BC, respectively. Most of the lymphoid BC (4/5) had the M-bcr breakpoint in subregion 3, while the myeloid BC had the breakpoint either in subregion 2 or 3. No differences between the different myeloid phenotypic subgroups were observed in relation to breakpoint.
我们对45例处于急变期（BC）的慢性粒细胞白血病（CML）患者进行了连续观察，研究其表型和临床特征。此外，我们还对其中22例患者的基因型特征进行了分析，包括免疫球蛋白、T细胞受体（TCR）和主要断裂点簇区域（M-bcr）基因结构。粒单核细胞系和巨核细胞系是CML急变期最常受累的细胞系（分别占病例的33%）；我们的病例中只有18%表现为淋巴样表型。此外，形态学和免疫表型研究均显示，常同时存在两个或三个细胞群，尤其是当巨核母细胞成分受累时。淋巴样急变期完全缓解率最高，尽管这与生存期延长无关。不同髓系亚组之间仅观察到微小差异。在6例淋巴样急变期患者中的5例以及1例髓系急变期患者中发现了免疫球蛋白重链（IgH）基因重排。仅1例显示κ轻链基因重排。除1例髓系急变期患者外，其余所有患者的TCR-β基因均处于种系构型。TCR-γ基因在所有淋巴样急变期患者及1例髓系急变期患者中发生重排，而TCR-δ基因重排在淋巴样急变期患者和髓系急变期患者中的检出率分别为67%和16%。大多数淋巴样急变期患者（4/5）的M-bcr断裂点位于3区，而髓系急变期患者的断裂点位于2区或3区。在断裂点方面，未观察到不同髓系表型亚组之间存在差异。
