Recurrent isochromosome 21 and multiple abnormalities in a patient suspected of having acute myeloid leukemia with eosinophilic differentiation—a rare case from South India

作     者：Sangeetha Vijay Santhi Sarojam Sureshkumar Raveendran Vani Syamala Sreeja Leelakumari Geetha Narayanan Sreedharan Hariharan 

作者机构：Division of Cancer ResearchRegional Cancer CentreMedical CollegeThiruvananthapuramKerala 695011India Division of Medical OncologyRegional Cancer CentreMedical CollegeThiruvananthapuramKerala 695011India 

出 版 物：《Chinese Journal of Cancer》 (Chin. J. Cancer)

年 卷 期：2012年第31卷第1期

页      面：45-50页

核心收录：

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

基　　金：supported by a grant from Kerala State Council for Science  Technology and Environment(KSCSTE)  Govt. of Kerala  India 

主　　题：慢性粒细胞白血病 嗜酸性粒细胞 等臂染色体 染色体异常 髓细胞 急性 细胞遗传学分析 复发 

摘      要：Acute myeloid leukemia (AML) is a phenotypically heterogeneous disorder. The M4 subtype of AML is frequently associated with the cytogenetic marker inversion 16 and/or the presence of eosinophilia. Blast crisis is the aggressive phase of the triphasic chronic myeloid leukemia (CML), which is a disease with Philadelphia (Ph) chromosome as the major abnormality. In the present study, we report a 76-year-old patient suspected of having AML with eosinophilic differentiation (AML-M4), which in clinical tests resembles CML blast crisis with multiple chromosomal abnormalities. Isochromosome 21 [i(21)(q10)] was the most recurrent feature noted in metaphases with 46 chromosomes. Ring chromosome, tetraploid endoreduplication, recurrent aneuploid clones with loss of X chromosome, monosomy 17, monosomy 7, and structural variation translocation (9;14) were also observed in this patient. Fluorescent in situ hybridization (FISH) confirmed the absence of Ph chromosome. This report shows how cytogenetic analyses revealed atypical structural aberrations in the M4 subtype of AML.