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进行了光谱核型分析，并建立了一株MDS- l细胞系（英国血友病杂志87:235,1994）。联合SKY和DAPI显带分析如前所述（基因染色体癌，26:36,1999）。5号染色体长臂缺失（5q-）和no.20（20q-）分别在17例（25%）和6例患者中被发现。在9例患者中检测到涉及17p11-q11.2的易位，包括5q11.2(2)、2q33、3q21、11p11、11q13、14q11.2、21q22和22q11，导致l7p缺失。联合SKY和DAPI条带分析发现，17例患者中有11例（65%）易位涉及5q并几乎完全失去长臂。所有患者均表现出复杂的核型异常，模态染色体数目在44 ~ 71之间。17例患者中有7例（41%）在5q11.2位点发生易位，5q13-14位点在3例（18%）和5q31位点在1例（6%）中发生易位。利用荧光原位杂交（FISH）和阿尔法探针确定5q11.2的断点。5q11.2位点的伴侣被鉴定为15q11.2(2□DNA和5q12 （AF5患者），17p11 (2),no.9(1)、12路(1)、（13）（1）. 5q13-14易位的伴侣排在第4位2例，12例（1）. 5q31的伙伴是第13位。MDS-L显示5q染色体，SKY定义为der(5)t(5;19)（q11.2;q11）。其余6例出现间质缺失；德尔(5)(q11.2q13.1),德尔(5)(q11.2q33),德尔(5)(q11.2q15),德尔(5)(q13q33) (5) (q13q31)和德尔(5)(q22q35)。用g带和DAPI带确定断点。其中三名患者的核型只有一两个异常。6例20q异常患者中有2例各出现t(17;20)（p11;q11）和t(20;22)t（q11;q11）的反向易位。SKY分析检测到两个复发性染色体重排，der(5)t(5;15)（q11.2;q11.2）和der(5)t(5;17)（q11.2;p11）。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