Udayakumar Achandira M, Pathare Anil V, Muralitharan S, Alghzaly Asem A, Alkindi Salam, Raeburn J A
Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Sultanate of Oman.
Arch Med Res. 2007 Oct;38(7):797-802. doi: 10.1016/j.arcmed.2007.04.007. Epub 2007 Jun 21.
We describe a case of acute myeloid leukemia (AML) in which trisomy 21 was the sole acquired cytogenetic abnormality. The immunophenotype showed positivity for CD7 and CD9 along with CD13, CD33, and CD34. The chromosomal analysis of bone marrow showed 47,XY +21 in all the metaphases analyzed. The constitutional karyotype was normal. The patient was an adult and did not have any features of Down's syndrome. The bone marrow morphology was AML-M2 as per the French-American-British (FAB) criteria. A final diagnosis of CD7- and CD9-positive AML-M2 was established with trisomy 21 as a sole cytogenetic abnormality. The patient responded remarkably well to chemotherapy and achieved complete clinical remission. This is the first case of CD7- and CD9-positive AML with trisomy 21 as a sole abnormality. A putative role for the co-expression of abnormal lymphoid markers in achieving quick remission is discussed.
我们描述了一例急性髓系白血病(AML),其中21号染色体三体是唯一获得性细胞遗传学异常。免疫表型显示CD7和CD9呈阳性,同时伴有CD13、CD33和CD34阳性。骨髓染色体分析显示,所有分析的中期细胞均为47,XY +21。其染色体核型正常。该患者为成年人,没有任何唐氏综合征的特征。根据法国-美国-英国(FAB)标准,骨髓形态学表现为AML-M2。最终诊断为CD7和CD9阳性的AML-M2,21号染色体三体为唯一细胞遗传学异常。该患者对化疗反应显著良好,实现了完全临床缓解。这是首例以21号染色体三体为唯一异常的CD7和CD9阳性AML。文中讨论了异常淋巴标记物共表达在实现快速缓解中可能发挥的作用。