M-FISH用于骨髓增生异常综合征细胞株MUTZ-1复杂核型的检测分析(英文)

Detection of Complex Karyotype in A Myelodysplastic Syndrome Cell Line (MUTZ-1) by Metaphase Fluorescence in situ Hybridization

本研究的目的是观察伴有5号染色体缺失的MDS细胞株MUTZ-1细胞的遗传学变化。首先采用R显带技术对染色体标本进行核型分析,再以Vysis Spectra VysionTMM-FISH作为探针,检测并分析其复杂异常核型。结果表明: M-FISH分析显示有明显的高频率染色体的易位、插入、断裂与重接、缺失、数目增多;染色体分析揭示核型为50, xx, der(1) t(1;2), ins(1;14), +der(2)t(2;19), der(3)t(3;5), der(3)(3::5::22), 5q-, der(6)t(3;6), der(7)(18::7::17), +8, +der(9)t(1;9), der(10)t(1;10), +11, +12, der(? 13)(10::13::5::8), der(14)t(8;14), der(14)t(14,15), der(15)t(15;21)×2, +17, +18,-21,-22.结论: MDS细胞株MUTZ-1在M-FISH检测下有显著复杂的核型变化;M-FISH能增加高度复杂的异常染色体检测的准确性,有助于MDS的诊断和预后评估。

This study was aimed to investigate the cytogenetic changes of MDS cell line （ MUTZ-1 ） with chromosome 5q deletion. R-banding analysis was used to identify chromosome aberrations in MDS cell line and Vysis Spectra VysionTM M-FISH was used to further characterize chromosomal complex karyotype. The results indicated that M-FISH exhibited obvious chromosomal aberrations with high frequency including translocation, insertion, breakage and rearrangement, deletion and increasement of chromosome number, the complex karyotype of MLTZ-1 was shown as 50 , xx, der（1）t（1;2）, ins（1;14）, ＋der（2）t（2;19）, der（3） t（3;5）, der（3）（3：：5：：22）,5q-,der（6）t（3;6）,der（7） （18：：7：：17）, ＋8, ＋der（9）t（1;9）, der（10）t（1;10）, ＋11, ＋12,der（？ 13）（10：：13：5：8）,der（14）t（8;14）, der（ 14）t（ 14,15）, der（ 15）t（ 15;21 ）×2, ＋ 17, ＋ 18, -21, -22. It is concluded that M-FISH analysis revealed obvious changes in complex karyotype of MDS cell line MUTZ-1, and the M-FISH technique can increase accuracy of detection for chromosomal comolex karvotvoe, and help diagnosis and prognostic evaluation of MDS.