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A novel and cytogenetically cryptic t(7;21)(p22;q22) in acute myeloid leukemia results in fusion of RUNX1 with the ubiquitin-specific protease gene USP42

Paulsson, Kajsa LU ; Békássy, Albert LU ; Olofsson, Tor LU ; Mitelman, Felix LU ; Johansson, Bertil LU and Panagopoulos, Ioannis LU (2006) In Leukemia 20(2). p.224-229
Abstract
Although many of the chromosomal abnormalities in hematologic malignancies are identifiable cytogenetically, some are only detectable using molecular methods. We describe a novel cryptic t(7;21)(p22;q22) in acute myeloid leukemia (AML). FISH, 3'RACE, and RT-PCR revealed a fusion involving RUNX1 and the ubiquitin-specific protease (USP) gene USP42. The genomic breakpoint was in intron 7 of RUNX1 and intron 1 of USP42. The reciprocal chimera was not detected - neither on the transcriptional nor on the genomic level - and FISH showed that the 50 part of USP42 was deleted. USP42 maps to a 7p22 region characterized by segmental duplications. Notably, 17 kb duplicons are present 1Mb proximal to USP42 and 3Mb proximal to RUNX1; these may be... (More)
Although many of the chromosomal abnormalities in hematologic malignancies are identifiable cytogenetically, some are only detectable using molecular methods. We describe a novel cryptic t(7;21)(p22;q22) in acute myeloid leukemia (AML). FISH, 3'RACE, and RT-PCR revealed a fusion involving RUNX1 and the ubiquitin-specific protease (USP) gene USP42. The genomic breakpoint was in intron 7 of RUNX1 and intron 1 of USP42. The reciprocal chimera was not detected - neither on the transcriptional nor on the genomic level - and FISH showed that the 50 part of USP42 was deleted. USP42 maps to a 7p22 region characterized by segmental duplications. Notably, 17 kb duplicons are present 1Mb proximal to USP42 and 3Mb proximal to RUNX1; these may be important in the genesis of t(7; 21). This is the second cryptic RUNX1 translocation in hematologic malignancies and the first in AML. The USPs have not previously been reported to be rearranged in leukemias. The cellular context in which USP42 is active is unknown, but we here show that it is expressed in normal bone marrow, in primary AMLs, and in cancer cell lines. Its involvement in the t(7; 21) suggests that deregulation of ubiquitin-associated pathways may be pathogenetically important in AML. (Less)
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author
; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
RUNX1, USP42, acute myeloid leukemia, cryptic translocation
in
Leukemia
volume
20
issue
2
pages
224 - 229
publisher
Nature Publishing Group
external identifiers
  • wos:000234844500009
  • pmid:16357831
  • scopus:31444449609
  • pmid:16357831
ISSN
1476-5551
DOI
10.1038/sj.leu.2404076
language
English
LU publication?
yes
id
22a1d87c-a236-4d97-8ecd-8d2413aace58 (old id 419373)
alternative location
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=PubMed&Cmd=ShowDetailView&TermToSearch=16357831
date added to LUP
2016-04-01 17:05:45
date last changed
2021-09-15 01:38:11
@article{22a1d87c-a236-4d97-8ecd-8d2413aace58,
  abstract     = {Although many of the chromosomal abnormalities in hematologic malignancies are identifiable cytogenetically, some are only detectable using molecular methods. We describe a novel cryptic t(7;21)(p22;q22) in acute myeloid leukemia (AML). FISH, 3'RACE, and RT-PCR revealed a fusion involving RUNX1 and the ubiquitin-specific protease (USP) gene USP42. The genomic breakpoint was in intron 7 of RUNX1 and intron 1 of USP42. The reciprocal chimera was not detected - neither on the transcriptional nor on the genomic level - and FISH showed that the 50 part of USP42 was deleted. USP42 maps to a 7p22 region characterized by segmental duplications. Notably, 17 kb duplicons are present 1Mb proximal to USP42 and 3Mb proximal to RUNX1; these may be important in the genesis of t(7; 21). This is the second cryptic RUNX1 translocation in hematologic malignancies and the first in AML. The USPs have not previously been reported to be rearranged in leukemias. The cellular context in which USP42 is active is unknown, but we here show that it is expressed in normal bone marrow, in primary AMLs, and in cancer cell lines. Its involvement in the t(7; 21) suggests that deregulation of ubiquitin-associated pathways may be pathogenetically important in AML.},
  author       = {Paulsson, Kajsa and Békássy, Albert and Olofsson, Tor and Mitelman, Felix and Johansson, Bertil and Panagopoulos, Ioannis},
  issn         = {1476-5551},
  language     = {eng},
  number       = {2},
  pages        = {224--229},
  publisher    = {Nature Publishing Group},
  series       = {Leukemia},
  title        = {A novel and cytogenetically cryptic t(7;21)(p22;q22) in acute myeloid leukemia results in fusion of RUNX1 with the ubiquitin-specific protease gene USP42},
  url          = {http://dx.doi.org/10.1038/sj.leu.2404076},
  doi          = {10.1038/sj.leu.2404076},
  volume       = {20},
  year         = {2006},
}