Bloomfield C D, Goldman A I, Alimena G, Berger R, Borgström G H, Brandt L, Catovsky D, de la Chapelle A, Dewald G W, Garson O M
Blood. 1986 Feb;67(2):415-20.
The importance of banded chromosome analyses in predicting long-term outcome in acute lymphoblastic leukemia (ALL) was evaluated in this follow-up study of 329 patients from the Third International Workshop on Chromosomes in Leukemia. Patients were divided into ten groups according to pretreatment karyotype: no abnormalities, one of the following structural abnormalities [the Philadelphia chromosome, translocations involving 8q24,t(4;11), 14q+, 6q-] or, in the remaining cases, modal number [less than 46, 46, 47 to 50, greater than 50]. Achievement and duration of complete remission (CR) and survival differed among chromosome groups (P less than .0001). Karyotype was an independent prognostic factor for duration of first CR and survival, even when age, initial leukocyte count (WBC), French-American-British (FAB) type, and immunologic phenotype were considered. Among adults, prolonged remission and survival were uncommon in all chromosome groups. Only in the normal karyotype group was median survival even two years. Among children, striking differences in long-term remission and survival were seen depending upon karyotype. Children in the greater than 50 group did best, with 70% remaining in first CR for a median duration in excess of five years. Children in the 47-50, 6q-, and normal karyotype groups also had prolonged survivals. In contrast, certain translocations [t(9;22)(q34;q11), t(4;11)(q21;q14-23), t(8;14)(q24;q32)] identified children who had short survivals, even in the presence of favorable prognostic factors including a low WBC, L1 morphology, and non-T, non-B immunologic phenotype. We conclude that chromosome analysis is required at diagnosis in patients with ALL, and that children with these specific translocations should be managed as having high-risk ALL.
在这项对来自第三届白血病染色体国际研讨会的329例患者的随访研究中,评估了染色体分析在预测急性淋巴细胞白血病(ALL)长期预后方面的重要性。根据预处理核型将患者分为十组:无异常、以下结构异常之一[费城染色体、涉及8q24的易位、t(4;11)、14q+、6q-],或在其余病例中,根据染色体众数[少于46、46、47至50、大于50]分组。各染色体组之间完全缓解(CR)的达成情况、持续时间及生存率存在差异(P<0.0001)。核型是首次CR持续时间和生存率的独立预后因素,即便考虑了年龄、初始白细胞计数(WBC)、法美英(FAB)分型及免疫表型亦是如此。在成人中,所有染色体组的缓解期延长和生存率提高均不常见。只有正常核型组的中位生存期达到了两年。在儿童中,根据核型不同,长期缓解和生存率存在显著差异。大于50组的儿童情况最佳,70%的患儿首次CR持续时间超过五年,中位数超过五年。47 - 50组、6q-组和正常核型组的儿童也有较长的生存期。相反,某些易位[t(9;22)(q34;q11)、t(4;11)(q21;q14 - 23)、t(8;14)(q24;q32)]可识别出生存期较短的儿童,即便存在包括低WBC、L1形态及非T、非B免疫表型等有利预后因素亦是如此。我们得出结论,ALL患者诊断时需要进行染色体分析,具有这些特定易位的儿童应按高危ALL进行管理。