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细胞遗传学及其在原发性急性髓系白血病中的预后价值:283例报告

Cytogenetics and their prognostic value in de novo acute myeloid leukaemia: a report on 283 cases.

作者信息

Fenaux P, Preudhomme C, Laï J L, Morel P, Beuscart R, Bauters F

机构信息

Service des Maladies du Sang, C.H.U., 1 Place de Verdun, Lille, France.

出版信息

Br J Haematol. 1989 Sep;73(1):61-7. doi: 10.1111/j.1365-2141.1989.tb00221.x.

Abstract

Cytogenetic analysis was successfully performed at diagnosis in 283 patients with de novo acute myeloid leukaemia (AML), including eight children aged 6-15 and 275 adults. Mean age was 50.3 (range 6-86) and the M/F ratio was 1.23. 214 patients were treated by intensive chemotherapy and 75.2% achieved complete remission. Patients with inv(16) and t(8;21) had very high CR rates whereas those with complex cytogenetic abnormalities (with or without involvement of chromosomes 5 and/or 7) had a poor response to therapy. Other karyotypic abnormalities and normal karyotypes were associated with intermediate CR rates. In a multivariate analysis, cytogenetics were the best prognostic factor of the achievement of CR, followed by age and platelet count. Median actuarial disease-free survival (DFS) of the patients who achieved CR was 19 months. No significant differences in actuarial DFS were found according to karyotype. However, no relapses were seen in patients with inv(16) and t(9;11) or its variants. Conversely, the median DFS was only 12.5 months in patients with t(15;17). Median actuarial DFS was 24 months in patients with t(8;21), but a high incidence of early relapses were seen, and the actuarial DFS was only 54% at 12 months. Patients with trisomy 8 also had a median actuarial DFS of 24 months. Our findings do not support the previously reported 'favourable' prognosis of t(15;17) translocations. They suggest that, although it is characterized by a high CR rate, t(8;21) might be associated with a high incidence of early relapses and that, finally, inv(16) might be the only 'favourable' cytogenetic rearrangement in AML. Furthermore, the prognosis associated with t(9;11) or its variants (at least in adults), and trisomy 8 might be less severe than suggested in other studies.

摘要

对283例初发急性髓系白血病(AML)患者在诊断时成功进行了细胞遗传学分析,其中包括8名6 - 15岁的儿童和275名成人。平均年龄为50.3岁(范围6 - 86岁),男女比例为1.23。214例患者接受了强化化疗,75.2%达到完全缓解。伴有inv(16)和t(8;21)的患者完全缓解率非常高,而伴有复杂细胞遗传学异常(无论是否涉及5号和/或7号染色体)的患者对治疗反应较差。其他核型异常和正常核型与中等完全缓解率相关。在多变量分析中,细胞遗传学是达到完全缓解的最佳预后因素,其次是年龄和血小板计数。达到完全缓解的患者的中位精算无病生存期(DFS)为19个月。根据核型未发现精算DFS有显著差异。然而,伴有inv(16)和t(9;11)或其变异型的患者未出现复发。相反,伴有t(15;17)的患者中位DFS仅为12.5个月。伴有t(8;21)的患者中位精算DFS为24个月,但早期复发率较高,12个月时精算DFS仅为54%。8号染色体三体的患者中位精算DFS也为24个月。我们的研究结果不支持先前报道的t(15;17)易位的“良好”预后。它们表明,尽管t(8;21)以高完全缓解率为特征,但可能与早期复发率高相关,最终,inv(16)可能是AML中唯一“良好”的细胞遗传学重排。此外,与t(9;11)或其变异型(至少在成人中)相关的预后以及8号染色体三体可能不如其他研究中所提示的那么严重。

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