PMC3646816_01
Cytogenetic, FISH, and PCR analyses of the erythroid leukemia.. A) Partial G-banded karyotype showing what appeared to be chromosome aberrations der(11)t(11;20)(p11;q13) and der(20)t(11;20)(p11;q13) together with their corresponding normal homologues; breakpoint positions are indicated by arrows. B) FISH using BAC RP11-702E03 (red signal) from 20q13 containing the ZMYND8 gene and BAC CTD-2382C11 (green signal) for RELA. A part of the probe RP11-702E03 for ZMYND8 as well as the entire probe CTD-2382C11 for RELA had moved to band p12 of the derivative chromosome 11. The data suggest that the functional fusion gene is generated on the der(11). C) G-banding of the metaphase spread shown in (B). D) Mapping position of the RP11-702E03 on chromosome band 20q13 and CTD-2382C11 on chromosome band 11q13. E) Amplification of ZMYND8-RELA fusion cDNA fragments using ZMYND8-2683F and RELA-516R primer sets (lane 1) and ZMYND8-3079F and RELA-516R primers (lane 2). M, 1 Kb DNA ladder. F) Partial sequence chromatogram showing the junctions of the ZMYND8-RELA chimeric transcript and part of the in-frame coding protein.
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CD13 and CD11b. Cytogenetic analysis of BM cells showed the abnormal karyotype 46,XY,t(11;20)(p11;q11) in 8 out of 10 metaphases (Figure 1A and 1C).