Analysis of translocations that involve the NUP98 gene in patients with 11p15 chromosomal rearrangements.
The NUP98 gene has been reported to be fused with at least 15 partner genes in leukemias with 11p15 translocations. We report the results of screening of cases with cytogenetically documented rearrangements of 11p15 and the subsequent identification of involvement of NUP98 and its partner genes. We identified 49 samples from 46 hematology patients with 11p15 (including a few with 11p14) abnormalities, and using fluorescence in situ hybridization (FISH), we found that NUP98 was disrupted in 7 cases. With the use of gene-specific FISH probes, in 6 cases, we identified the partner genes, which were PRRX1 (PMX1; in 2 cases), HOXD13, RAP1GDS1, HOXC13, and TOP1. In the 3 cases for which RNA was available, RT-PCR was performed, which confirmed the FISH results and identified the location of the breakpoints in patient cDNA. Our data confirm the previous findings that NUP98 is a recurrent target in various types of leukemia.
Kobzev
Yuri N
YN
Section of Hematology/Oncology, Department of Medicine, Biological Sciences Division, University of Chicago, 5841 S. Maryland Avenue, Chicago, IL 60637, USA.
Martinez-Climent
Jose
J
Lee
Sanggyu
S
Chen
Jianjun
J
Rowley
Janet D
JD
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D004264:DNA Topoisomerases, Type I / Q000235:genetics; D020022:Genetic Predisposition to Disease; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007938:Leukemia / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic
D020662:Guanine Nucleotide Exchange Factors; C410305:HOXC13 protein, human; C513184:HOXD13 protein, human; D018398:Homeodomain Proteins; D028861:Nuclear Pore Complex Proteins; C082157:PRRX1 protein, human; C115955:RAP1GDS1 protein, human; D014157:Transcription Factors; C093350:nuclear pore complex protein 98; D004264:DNA Topoisomerases, Type I