Geisler C H, Philip P, Christensen B E, Hou-Jensen K, Pedersen N T, Jensen O M, Thorling K, Andersen E, Birgens H S, Drivsholm A, Ellegaard J, Larsen J K, Plesner T, Brown P, Andersen P K, Hansen M M
Department of Haematology, Rigshospitalet, Copenhagen, Denmark.
Leuk Res. 1997 Nov-Dec;21(11-12):1011-23. doi: 10.1016/s0145-2126(97)00095-7.
Of 560 consecutive, newly diagnosed untreated patients with B CLL submitted for chromosome study, G-banded karyotypes could be obtained in 480 cases (86%). Of these, 345 (72%) had normal karyotypes and 135 (28%) had clonal chromosome abnormalities: trisomy 12 (+12) was found in 40 cases, 20 as +12 alone (+12single), 20 as +12 with additional abnormalities (+12complex). Other frequent findings included abnormalities of 14q, chromosome 17, 13q and 6q. The immunophenotype was typical for CLL in 358 patients (CD5+, Slg(weak), mainly FMC7-) and atypical for CLL in 122 patients (25%) (CD5-, or Slg(strong) or FMC7+). Chromosome abnormalities were found significantly more often in patients with atypical (48%) than in patients with typical CLL phenotype (22%) (P < 0.00005). Also +12complex, 14q+, del6q, and abnormalities of chromosome 17 were significantly more frequent in patients with atypical CLL phenotype, whereas +12single was found equally often in patients with typical and atypical CLL phenotype. The cytomorphology of most of the +12 patients was that of classical CLL irrespective of phenotype. In univariate survival analysis the following cytogenetic findings were significantly correlated to a poor prognosis: chromosome 17 abnormalities, 14q+, an abnormal karyotype, +12complex, more than one cytogenetic event, and the relative number of abnormal mitoses. In multivariate survival analysis chromosome 17 abnormalities were the only cytogenetic findings with independent prognostic value irrespective of immunophenotype. We conclude that in patients with typical CLL immunophenotype, chromosome abnormalities are somewhat less frequent at the time of diagnosis than hitherto believed. +12single is compatible with classical CLL, and has no prognostic influence whereas chromosome 17 abnormalities signify a poor prognosis. In patients with an atypical CLL immunophenotype, chromosome abnormalities including +12complex, 14q+, del 6q and chromosome 17 are found in about 50% of the patients, and in particular chromosome 17 abnormalities suggest a poor prognosis.
在560例连续的、新诊断的未经治疗的B细胞慢性淋巴细胞白血病患者中，提交进行染色体研究，480例（86%）可获得G显带核型。其中，345例（72%）核型正常，135例（28%）有克隆性染色体异常：40例发现12号染色体三体（+12），20例为单纯+12（+12单一型），20例为+12伴其他异常（+12复合型）。其他常见发现包括14q、17号染色体、13q和6q异常。358例患者（CD5+、Slg（弱）、主要为FMC7-）的免疫表型为典型慢性淋巴细胞白血病，122例患者（25%）为非典型慢性淋巴细胞白血病（CD5-、或Slg（强）或FMC7+）。非典型慢性淋巴细胞白血病患者（48%）染色体异常的发生率显著高于典型慢性淋巴细胞白血病表型患者（22%）（P<0.00005）。同样，+12复合型、14q+、6q缺失和17号染色体异常在非典型慢性淋巴细胞白血病表型患者中显著更常见，而+12单一型在典型和非典型慢性淋巴细胞白血病表型患者中出现频率相同。大多数+12患者的细胞形态学表现为经典慢性淋巴细胞白血病，与表型无关。单因素生存分析中，以下细胞遗传学发现与预后不良显著相关：17号染色体异常、14q+、核型异常、+12复合型、多个细胞遗传学事件以及异常有丝分裂的相对数量。多因素生存分析中，无论免疫表型如何，17号染色体异常是唯一具有独立预后价值的细胞遗传学发现。我们得出结论，在典型慢性淋巴细胞白血病免疫表型患者中，诊断时染色体异常的频率比迄今认为的略低。+12单一型与经典慢性淋巴细胞白血病相符，无预后影响，而17号染色体异常预示预后不良。在非典型慢性淋巴细胞白血病免疫表型患者中，约50%的患者存在包括+12复合型、14q+、6q缺失和17号染色体在内的染色体异常，特别是17号染色体异常预示预后不良。
