PMID- 20417862 OWN - NLM STAT- MEDLINE DCOM- 20100504 LR - 20100426 IS - 1873-4456 (Electronic) IS - 0165-4608 (Linking) VI - 199 IP - 1 DP - 2010 May TI - A novel t(5;11)(q31;p15) involving the NUP98 gene on 11p15 is associated with a loss of the EGR1 gene on 5q31 in a patient with acute myeloid leukemia. PG - 9-14 LID - 10.1016/j.cancergencyto.2010.01.008 [doi] AB - To date, at least 25 translocations involving the NUP98 gene and different partner genes have been reported in the literature. Here, we describe a novel reciprocal t(5;11)(q31;p15) involving NUP98, as revealed by conventional karyotypic analysis using R-banding technique and fluorescence in situ hybridization (FISH) using a BAC RP11-120E20 probe and whole chromosome paint probes for chromosomes 5 and 11 in a 77-year-old woman who was diagnosed as having de novo acute myeloid leukemia. The patient received two courses of intensive combined chemotherapy but did not reach complete remission. She eventually died from the progressive disease, surviving for only 1 month after diagnosis. FISH analysis using WCP5 together with BAC RP11-878F9 or RP11-155N22 demonstrated that the breakpoint of chromosome 5 is located on 5q31. In addition, the EGR1 gene was unexpectedly found to be lost in the FISH study using EGR1 (red)/D5S23, D5S721 (green) dual-color probe. We supposed that the fusion gene created by t(5;11)(q31;p15) consisting of the NUP98 and its partner gene, as well as the loss of the EGR1 gene, may play a cooperative role in leukemogenesis. The partner gene of NUP98 in t(5;11)(q31;p15) is unclear at this time. Further molecular study is required to identify this partner gene in our patient. CI - 2010 Elsevier Inc. All rights reserved. FAU - Wang, Yong AU - Wang Y AD - The First Affiliated Hospital of Soochow University, Jiangsu Institutes of Hematology, Suzhou, PR China. FAU - Xue, Yongquan AU - Xue Y FAU - Chen, Suning AU - Chen S FAU - Wu, Yafang AU - Wu Y FAU - Pan, Jinlan AU - Pan J FAU - Zhang, Jun AU - Zhang J FAU - Shen, Juan AU - Shen J LA - eng PT - Case Reports PT - Journal Article PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - 0 (EGR1 protein, human) RN - 0 (Early Growth Response Protein 1) RN - 0 (Nuclear Pore Complex Proteins) RN - 0 (Nup98 protein, human) SB - IM MH - Aged MH - Chromosome Banding MH - Chromosomes, Human, Pair 11/*genetics MH - Chromosomes, Human, Pair 5/*genetics MH - Early Growth Response Protein 1/*genetics MH - Female MH - Humans MH - Karyotyping MH - Leukemia, Myeloid, Acute/*genetics MH - Nuclear Pore Complex Proteins/*genetics MH - *Translocation, Genetic EDAT- 2010/04/27 06:00 MHDA- 2010/05/05 06:00 CRDT- 2010/04/27 06:00 PHST- 2009/09/05 00:00 [received] PHST- 2010/01/07 00:00 [revised] PHST- 2010/01/12 00:00 [accepted] PHST- 2010/04/27 06:00 [entrez] PHST- 2010/04/27 06:00 [pubmed] PHST- 2010/05/05 06:00 [medline] AID - S0165-4608(10)00035-X [pii] AID - 10.1016/j.cancergencyto.2010.01.008 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2010 May;199(1):9-14. doi: 10.1016/j.cancergencyto.2010.01.008.