摘要
目的对1例伴有ins（15；17），t（2；17；20），＋8复杂异常的急性早幼粒细胞白血病（acute promyelocytic leukenlia，APE）病例进行细胞和分子遗传学研究。方法按常规制备染色体，以R显带技术进行核型分析，并先后作多色荧光原位杂交（multiplex fluoresence in situhy bridization，M—FISH）、染色体涂染和PML-RARa双色FISH检测。结果R显带核型分析为47，XY，2q-，＋8，17q＋，20p＋；M-FISH检测为：47，XY，t（2；17；20）（q24；q21；p13），＋8；染色体涂染证实了2q24以下片段易位到17q21上和17q21以下片段易位到20p13上；双色FISH示17号染色体上RARa（retinoicacidreceptord，RA鼬）基因部分片段插入到15号染色体形成PML-RAR~融合基因，即ins（15；17）（q22；q21．1q21．3）。结论FISH技术是明确隐匿／插入易位的可靠手段，凡形态学拟诊为APL而常规核型分析未发现t（15；17）者均应进行FISH检测。
Objective To report a rare complex karyotypic abnormalities including ins （ 15 ; 17）, t （2 ; 17 ; 20） and trisomy 8 in a patient with acute promyelocytic leukemia （APL） ： Methods Chromosomes were prepared after 24 h culture of bone marrow cells. R-banding technique was used to analyze the karyotype. Multiplex fluorescence in situ hy- bridization （M-FISH）, chromosome painting using whole chromosome paint （WCP） 2, 15, 17 and 20 and interphase- FISH （I-FISH） using PML-RARa dual-colour dual-fusion translocation probe were performed to ascertain the essence and origin of the abnormal chromosomes detected by conventional karyotypic analysis. Results Karyotypic analysis revealed a karyotype of 47,XY, 2q-, ＋ 8,17q＋ ,20p＋. M-FISH analysis showed a karyotype of 47,XY,t（2; 17;20） （q24; q21 ;p13）, ＋ 8, which was confirmed by chromosome painting. PML-RARa fusion gene which lied in the derivative chromosome 15 was detected by I-FISH suggesting a cryptic insertion （15;17）（q22;q21.1q21.3）. Conclusion FISH is a reliable method for characterization of cryptic ins （ 15 ; 17） and other complex translocations. It should be used in all suspected APL patients lacking t（ 15; 17） by conventional karyotypic analysis.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2008年第6期712-714,共3页
Chinese Journal of Medical Genetics
基金
国家卫生部重点项目（WKJ2005-2-025）
关键词
急性早幼粒细胞白血病
荧光原位杂交
插入易位
acute promyelocytic leukemia
fluorescence in situ hybridization
insertion translocation
