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

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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