伴有11号染色体三体的急性髓系白血病的血液学、免疫表型及细胞遗传学特征

Hematological, immunophenotypic, and cytogenetic characteristics of acute myeloblastic leukemia with trisomy 11.

作者信息

Sierra Magdalena, Hernández Jesús M, García Juan L, Gutiérrez Norma C, Pérez José J, Vidriales M Belén, Ramos Fernando, Hernández José M, Romero Mercedes, González M Belén, Galende Josefina, San Miguel Jesús F

机构信息

Servicio de Hematología, Hospital Universitario de Salamanca and Centro de Investigación del Cáncer, Universidad de Salamanca-CSIC, Paseo San Vicente 58-182, 37007 Salamanca, Spain.

出版信息

Cancer Genet Cytogenet. 2005 Jul 1;160(1):68-72. doi: 10.1016/j.cancergencyto.2004.11.008.

DOI:10.1016/j.cancergencyto.2004.11.008

PMID:15949573

Abstract

We evaluated the incidence of trisomy 11 in acute myeloblastic leukemia (AML) and its correlation with the most relevant clinical, biological, and immunophenotypic disease characteristics in a total of 399 consecutive AML patients. Trisomy 11 was found in 15 patients (3.8%), in 3 of them as the sole abnormality. Median age was 68 years (range 48-87); 87% of patients were older than 60 years. Seven patients displayed multilineage dysplasia. Cytogenetics showed an association with trisomy 8 in six patients, and in five cases with a del(5q); nine patients had complex karyotypes. In all cases, in situ hybridization studies revealed three copies of the MLL gene, but no rearrangements or tandem duplications of MLL. Immunophenotypic analysis of blast cells showed a constant immature immunophenotypic profile with CD34 or CD117 expression (or both) in all cases analyzed. The complete remission rate was 43%; median survival time was only 2 months.

摘要

我们评估了399例连续性急性髓系白血病（AML）患者中11号染色体三体的发生率及其与最相关的临床、生物学和免疫表型疾病特征的相关性。在15例患者（3.8%）中发现了11号染色体三体，其中3例为唯一异常。中位年龄为68岁（范围48 - 87岁）；87%的患者年龄大于60岁。7例患者表现为多系发育异常。细胞遗传学显示6例患者与8号染色体三体相关，5例与del(5q)相关；9例患者具有复杂核型。在所有病例中，原位杂交研究显示有三个MLL基因拷贝，但无MLL重排或串联重复。原始细胞的免疫表型分析显示，在所有分析病例中均呈现持续的不成熟免疫表型特征，伴有CD34或CD117表达（或两者均有）。完全缓解率为43%；中位生存时间仅为2个月。