IDENTIFICATION OF CHROMOSOMAL REARRANGEMENTS SPECIFIC TO MYELODYSPLASTIC SYNDROME USING MULTICOLOR SPECTRAL KARYOTYPING

对58例骨髓增生异常综合征(MDS)或由MDS演变而来的急性非淋巴细胞白血病患者及1个已建立的MDS-L细胞系(英国《血液病杂志》87：235,1994)进行了光谱核型分析。Sky和DAPI的联合显带分析如前所述(基因染色体癌，26：336,1999)。5号染色体长臂(5q-)缺失17例(25%)，20号染色体长臂缺失6例(20q-)。在9例患者中发现了涉及17p11-q11.2易位的不同配对，包括5q11.2(2)、2q33、3q21、11p11、11q13、14q11.2、21q22和22q11，导致17p缺失。结合Sky和DAPI显带分析，在17名患者中有11名(65%)发现了涉及5q的易位，并几乎完全失去了长臂。所有患者均表现出复杂的核型异常，其模式染色体数目在44~71之间。在17例…患者中，有7例(41%)发现5q11.2易位与不同的伴侣有关3例(18%)在5q13-14位，1例(6%)出现5q31位核苷酸。用荧光原位杂交技术(FISH)确定5q11.2的断裂点。5q11.2处的伴侣分别为15q11.2(2-DNA和5q12(AF5患者)、17p11(2)、9号(1)、12号(1)和13号(1))。5q13-14易位配对分别为4号(2例)和12号(1例)。5q31的合作伙伴排名第13位。L发现一条5q染色体，Sky将其定义为der(5)t(5；19)(q11.2；q11)。其余6例为Del(5)(q11.2q13.1)、Del(5)(q11.2q33)、Del(5)(q11.2q15)、Del(5)(Q13q33)、Del(5)(Q13q31)和Del(5)(Q22q35)。G显带和DAPI显带鉴定断裂点。这些患者中有三人的核型只有一到两个异常。6例20q异常患者中有2例t(17；20)(p11；q11)和t(20；22)t(q11；q11)易位。Sky分析检测到两个重复的染色体重排，der(5)t(5；15)(q11.2；q11.2)和der(5)t(5；17)(q11.2；p11)。较少

Spectral karyotyping (SKY) analysis was performed in 58 patients with myelodysplastic syndrome (MDS) or acute nonlymphocytic leukemia evolving from MDS, and one established cell line MDS-L (Brit J Haematol 87:235,1994). Combined SKY and DAPI banding analysis was performed as described previously (Genes Chromosomes Cancer,26:336,1999). Deletions of the long arm of chromosomes no.5 (5q-) and no.20 (20q-) were identified in 17 (25%) and 6 patients, respectively. Translocations involving 17p11-q11.2 were detected with various partners including 5q11.2 (2),2q33,3q21,11p11,11q13,14q11.2,21q22,and 22q11 in 9 patients, resulting in deletion of l7p. Combined SKY and DAPI banding analysis identified translocations involving 5q coupled with nearly complete loss of the long arm in 11 (65%) of 17 patients. All these patients showed complicated karyotypic abnormalities with modal chromosome number ranging 44 to 71. Translocations at 5q11.2 were identified with various partners in 7 (41%) of 17 patie … More nts with 5q-, at 5q13-14 in 3 (18%), and 5q31 in 1 (6%). The breakpoint of 5q 11.2 was defined using fluorescence in situ hybridization (FISH) with alphoid probes. Partners at 5q11.2 were identified as 15q11.2 (2□DNA and 5q12 (AF5 patients),17p11 (2),no.9 (1), no.12 (1), and no.13 (1). Partners of 5q13-14 translocation were no.4 (2 patients) and no.12 (1). Partner of 5q31 was no.13. MDS-L showed a 5q-chromosome, defined as der(5)t(5;19)(q11.2;q11) by SKY. The remaining 6 patients showed interstitial deletions ; del(5)(q11.2q13.1), del(5)(q11.2q33), del(5)(q11.2q15), del(5)(q13q33), del(5)(q13q31), and del(5)(q22q35). The breakpoints were identified by G-banding and DAPI banding. Three of these patients showed only one or two abnormalities in their karyotypes. Two of 6 patients with 20q-abnormalities showed reciprocal translocation t(17;20)(p11;q11) and t(20;22)t(q11;q11) in each one. SKY analysis detected two recurrent chromosome rearrangements, der(5)t(5;15)(q11.2;q11.2) and der(5)t(5;17)(q11.2;p11). Less