Slovak M L, Traweek S T, Willman C L, Head D R, Kopecky K J, Magenis R E, Appelbaum F R, Forman S J
Department of Cytogenetics, City of Hope National Medical Center, Duarte, California 91010, USA.
Br J Haematol. 1995 Jun;90(2):266-73. doi: 10.1111/j.1365-2141.1995.tb05146.x.
The clinicopathological features and the prognostic significance of acute myeloid leukaemia (AML) with trisomy 11 are currently unknown. In this study we describe 15 adult AML cases with trisomy 11. Trisomy 11 was the sole chromosomal anomaly in eight cases; the remaining seven cases were characterized by +11 in association with other karyotypic aberrations. Patients ages ranged from 34 to 79 years. 12 patients were male; three were female. Although there was no correlation of trisomy 11 with any specific FAB subgroup [M2 (n = 7), M1 (n = 5), M4/5 (n = 2), M3 (n = 1)] less mature forms predominated. Immunologically, the leukaemic blasts showed a strikingly consistent stem cell phenotype with expression of HLA-DR, CD34 and the myeloid antigens (CD15, CD33 and/or CD13). In addition, two cases expressed the B-cell associated antigen CD19. The presence of trilineage dysplasia, suggesting the presence of an underlying myelodysplasia (MDS), was observed at presentation in five cases; in another case MDS was evident at relapse only. Unexpectedly, MLL gene rearrangements were observed in two of four cases characterized by trisomy 11 as the sole karyotypic abnormality; however, MLL aberrations were not identified in three cases with trisomy 11 accompanied by other karyotypic anomalies. The majority of patients in each subgroup (i.e. those with and without additional cytogenetic abnormalities) achieved a short first complete remission (CR) (mean 8 months) and failed to obtain a second CR. Only one patient in each trisomy 11 subgroup is in a continuous CR for > 34 months. These findings suggest that trisomy 11 leukaemia is characterized by a stem/progenitor cell immunophenotype with poor response to standard chemotherapeutic regimens and an unfavourable prognosis.
11号染色体三体急性髓系白血病（AML）的临床病理特征及预后意义目前尚不清楚。在本研究中，我们描述了15例成年11号染色体三体AML病例。11号染色体三体是8例患者唯一的染色体异常；其余7例的特征是+11伴有其他核型畸变。患者年龄在34至79岁之间。12例为男性，3例为女性。尽管11号染色体三体与任何特定的FAB亚组[M2（n = 7）、M1（n = 5）、M4/5（n = 2）、M3（n = 1）]均无相关性，但不成熟形式占主导。免疫表型上，白血病原始细胞表现出惊人一致的干细胞表型，表达HLA-DR、CD34和髓系抗原（CD15、CD33和/或CD13）。此外，2例表达B细胞相关抗原CD19。5例患者初诊时观察到三系发育异常，提示存在潜在的骨髓增生异常综合征（MDS）；另一例仅在复发时MDS明显。出乎意料的是，在以11号染色体三体为唯一核型异常的4例患者中，有2例观察到MLL基因重排；然而，在3例伴有其他核型异常的11号染色体三体患者中未发现MLL畸变。每个亚组（即有和无其他细胞遗传学异常的患者）的大多数患者首次完全缓解（CR）期较短（平均8个月），且未获得第二次CR。11号染色体三体亚组中各只有1例患者持续CR超过34个月。这些发现表明，11号染色体三体白血病的特征是具有干细胞/祖细胞免疫表型，对标准化疗方案反应不佳且预后不良。
