伴有22三体的t（5；17）变异易位急性早幼粒细胞白血病  

A case of acute promyelocylic leukemia with variant t（5;17） and trisomy 22

作　　者：仇海荣[1] 李建勇[1] 缪扣荣[1] 王蓉[1] 张建富[1] 徐卫[1] 

机构地区：[1]南京医科大学第一附属医院、江苏省人民医院血液科,210029

出　　处：《中华医学遗传学杂志》2008年第4期430-433,共4页Chinese Journal of Medical Genetics

基　　金：卫生部科研课题（WKJ2005-2-025,2007-3-001）

摘　　要：目的探讨一例核型为47，XY，t（5；17），＋22的少见急性早幼粒细胞白血病（acute promyelocytic leukemia，APL）的临床和实验特征。方法在常规核型分析的基础上，应用荧光原位杂交（fluorescence in situ hybridization，FISH）和多重荧光原位杂交（multiplex fluorescence in situ hybridization，M-FISH）技术进一步检测该病例的细胞遗传学异常，并结合文献分析此类少见变异易位的临床特点。结果FISH检测PML-RARa阴性，但77％的细胞显示存在17号RARa基因的重排或复制；BCR-ABL阴性，但74％的细胞显示有22号染色体的复制或重排。M-FISH明确RARa基因重排系5号与17号染色体易位所致，并证实了22号三体的存在。结论变异型t（5；17）易位，形成NPM-RARa融合基因的急性早幼粒细胞白血病是APL中少见的类型。骨髓形态表现为奥氏小体缺如，核型中常伴有其它附加染色体异常，全反式维甲酸（all-trans retinoic acid，ATRA）联合化疗有效，但易复发，合并弥漫性血管内凝血及高白细胞者预后凶险。Objeelive To report a case of acute promyelocytic leukemia （APL） with variant t （5;17）（ q35; q21） and to explore its laboratory and clinical features. Methods Conventional cytogenetics （CC） was used for karyotyping. Fluorescence in situ hybridization （FISH） and multiplex fluorescence in situ hybridization （M-FISH） were also performed to identify the chromosomal aberrations. Results The karyotype of the patient was 47, XY, t（5; 17）, ＋ 22. FISH analysis showed PML-RARa negative but 77% cells had a rearrangement or duplication of the RARa gene. BCRABL was negative but 74% cells had abnormality of chromosome 22. M-FISH confirmed the abnormalities are of chromosomes 5 and 17 rearrangement and trisomy 22. Conclusion Variant t（5; 17） giving rise to the fusion gene of NPM- RARa rarely occurs in APL patients. No Auer rods were identified by morphological study. It usually contains some extra chromosomal aberrations. It is sensitive to all-trans retinoic acid but has a high risk of relapse. If it goes with diffuse intravascular coagulation or high count of WBC, it usually indicates a poor prognosis.

关 键 词：急性早幼粒细胞白血病 变异易位 荧光原位杂交 多重荧光原位杂交 

分 类 号：R686[医药卫生—骨科学]