Heinonen K, Mahlamäki E, Hämäläinen E, Nousiainen T, Mononen I
Department of Clinical Chemistry, Kuopio University Hospital, Finland.
Cancer Genet Cytogenet. 1994 Nov;78(1):28-35. doi: 10.1016/0165-4608(94)90042-6.
Cytogenetic, clinical, and laboratory findings of three patients with a small cell variant of T-cell prolymphocytic leukemia (T-PLL) are presented. Immunophenotypic studies of the morphologically typical small cell variant prolymphocytes showed a mature helper T-cell phenotype (CD4+CD8-) in one patient and a common thymocyte phenotype (CD4+ CD8+) in two other patients. The cytogenetic analysis revealed complex karyotypes with several structural aberrations in the peripheral blood lymphocytes of all three patients. In all cases chromosome 14 was affected with the breakpoint at 14q11. Inversion (14) and isochromosome 8q, often reported as an additional aberration in T-PLL, were detected in two of the patients. In two patients a translocation of the short arm of chromosome 12 was also seen. The T-cell receptor beta-chain gene showed a clonal rearrangement in all three patients, whereas no rearrangements were detected in the immunoglobulin genes. The survival of the patients ranged from 10 weeks to 48 months. The association between cytogenetic, clinical, and laboratory data is discussed.
本文报告了3例T细胞幼淋巴细胞白血病（T-PLL）小细胞变异型患者的细胞遗传学、临床和实验室检查结果。对形态学典型的小细胞变异型幼淋巴细胞进行免疫表型研究，结果显示，1例患者表现为成熟辅助性T细胞表型（CD4+CD8-），另外2例患者表现为普通胸腺细胞表型（CD4+CD8+）。细胞遗传学分析显示，所有3例患者外周血淋巴细胞的核型复杂，存在多种结构畸变。所有病例中，14号染色体均受累，断点位于14q11。2例患者检测到（14）倒位和8号染色体长臂等臂染色体，这在T-PLL中常被报道为额外的畸变。2例患者还出现了12号染色体短臂易位。3例患者的T细胞受体β链基因均显示克隆性重排，而免疫球蛋白基因未检测到重排。患者的生存期为10周至48个月。本文还讨论了细胞遗传学、临床和实验室数据之间的关联。
