Cytogenetic abnormalities in adult acute lymphoblastic leukemia: correlations with hematologic findings outcome. A Collaborative Study of the Group Français de Cytogénétique Hématologique.
Cytogenetic abnormalities in adult acute lymphoblastic leukemia: correlations with hematologic findings outcome. A Collaborative Study of the Group Français de Cytogénétique Hématologique.
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法国细胞遗传学血液学小组对 443 名急性淋巴细胞白血病 (ALL) 成年患者诊断时进行的细胞遗传学分析进行了审查，与血液学数据相关，并与儿童 ALL 的结果进行了比较。这项研究表明，在成人中也发现了与儿童 ALL 中报道的相同的复发性异常，并根据年龄确定了它们的频率和分布。超过 50 条染色体且具有标准染色体获得模式的超二倍体的频率 (7%) 低于儿童，并且在 30 例病例中，有 11 例与费城染色体 (Ph) 相关。四倍体 (2%) 和三倍体 (3%) 比儿童 ALL 更常见。亚二倍体 30-39 染色体 (2%)，以特定的染色体丢失模式为特征，可能与引起 30-39 亚二倍体重复的三倍体组有关。两组具有相似的血液学特征。 Ph+ ALL (29%) 在 40 至 50 岁年龄范围内达到峰值 (49%)，并表现出高频率的骨髓抗原 (24%)。 t(1;19) (3%) 的 ALL 发生于年轻人（中位年龄 22 岁）。在 T 细胞 ALL (T-ALL) 中，14q11 断点 (26%) 和 t(10;14)(q24;q11) (14%) 的频率高于儿童 ALL。确定了新的复发性变化，即 Ph-ALL (17%) 和其他 ALL (8%) 中存在单体 7，以及两个新的复发性易位，T-ALL 中的 t(1;11)(p34;pll) 和 Ph+ ALL 中的 t(1;7)(q11-21;q35-36)。具有良好预后影响的倍性组是不带 Ph 染色体的大于 50 的超二倍体（中位无事件生存期 [EFS]，46 个月）和四倍体（中位 EFS，46 个月）。与更好的治疗反应相关的复发性异常也与 T 细胞谱系显着相关。其中，t(10;14)(q24;q11)（中位 EFS，46 个月）具有最佳的预后影响（3 年 EFS，75%）。亚二倍体 30-39 染色体和相关的三倍体与不良预后相关。所有 Ph-ALL 的 EFS 都很短（中位 EFS，5 个月），并且没有其他变化影响这种预后影响。大多数 t(1;19) 患者在 1 年内治疗失败。 11q23 变化并非由 t(4;11) 引起的患者预后较差，尽管他们没有表现出 t(4;11) 中发现的高危因素。
Cytogenetic analyses performed at diagnosis on 443 adult patients with acute lymphoblastic leukemia (ALL) were reviewed by the Groupe Français de Cytogénétique Hématologique, correlated with hematologic data, and compared with findings for childhood ALL. This study showed that the same recurrent abnormalities as those reported in childhood ALL are found in adults, and it determined their frequencies and distribution according to age. Hyperdiploidy greater than 50 chromosomes with a standard pattern of chromosome gains had a lower frequency (7%) than in children, and was associated with the Philadelphia chromosome (Ph) in 11 of 30 cases. Tetraploidy (2%) and triploidy (3%) were more frequent than that in childhood ALL. Hypodiploidy 30-39 chromosomes (2%), characterized by a specific pattern of chromosome losses, might be related to the triploid group that evoked a duplication of the 30-39 hypodiploidy. Both groups shared similar hematologic features. Ph+ ALL (29%) peaked in the 40- to 50-year-old age range (49%) and showed a high frequency of myeloid antigens (24%). ALL with t(1;19) (3%) occurred in young adults (median age, 22 years). In T-cell ALL (T-ALL), frequencies of 14q11 breakpoints (26%) and of t(10;14)(q24;q11) (14%) were higher than those in childhood ALL. New recurrent changes were identified, ie, monosomies 7 present in Ph-ALL (17%) and also in other ALL (8%) and two new recurrent translocations, t(1;11)(p34;pll) in T-ALL and t(1;7)(q11-21;q35-36) in Ph+ ALL. The ploidy groups with a favorable prognostic impact were hyperdiploidy greater than 50 without Ph chromosome (median event-free survival [EFS], 46 months) and tetraploidy (median EFS, 46 months). The recurrent abnormalities associated with better response to therapy were also significantly correlated to T-cell lineage. Among them, t(10;14)(q24;q11) (median EFS, 46 months) conferred the best prognostic impact (3-year EFS, 75%). Hypodiploidy 30-39 chromosomes and the related triploidy were associated with poor outcome. All Ph-ALL had short EFS (median EFS, 5 months), and no additional change affected this prognostic impact. Most patients with t(1;19) failed therapy within 1 year. Patients with 11q23 changes not because of t(4;11) had a poor outcome, although they did not present the high-risk factors found in t(4;11).