Ikaros and leukaemia.
(2015) In British Journal of Haematology 169(4). p.479-491- Abstract
- The IKZF1 gene at 7p12.2 codes for IKAROS (also termed IKZF1), an essential transcription factor in haematopoiesis involved primarily in lymphoid differentiation. Its importance is underlined by the fact that deregulation of IKAROS results in leukaemia in both mice and men. During recent years, constitutional as well as acquired genetic changes of IKZF1 have been associated with human disease. For example, certain germline single nucleotide polymorphisms in IKZF1 have been shown to increase the risk of some disorders and abnormal expression and somatic rearrangements, mutations and deletions of IKZF1 (ΔIKZF1) have been detected in a wide variety of human malignancies. Of immediate clinical importance is the fact that ΔIKZF1 occurs in 15%... (More)
- The IKZF1 gene at 7p12.2 codes for IKAROS (also termed IKZF1), an essential transcription factor in haematopoiesis involved primarily in lymphoid differentiation. Its importance is underlined by the fact that deregulation of IKAROS results in leukaemia in both mice and men. During recent years, constitutional as well as acquired genetic changes of IKZF1 have been associated with human disease. For example, certain germline single nucleotide polymorphisms in IKZF1 have been shown to increase the risk of some disorders and abnormal expression and somatic rearrangements, mutations and deletions of IKZF1 (ΔIKZF1) have been detected in a wide variety of human malignancies. Of immediate clinical importance is the fact that ΔIKZF1 occurs in 15% of paediatric B-cell precursor acute lymphoblastic leukaemia (BCP ALL) and that the presence of ΔIKZF1 is associated with an increased risk of relapse and a poor outcome; in some studies such deletions have been shown to be an independent risk factor also when minimal residual disease data are taken into account. However, cooperative genetic changes, such as ERG deletions and CRLF2 rearrangements, may modify the prognostic impact of ΔIKZF1, for better or worse. This review summarizes our current knowledge of IKZF1 abnormalities in human disease, with an emphasis on BCP ALL. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/5264893
- author
- Olsson, Linda LU and Johansson, Bertil LU
- organization
- publishing date
- 2015
- type
- Contribution to journal
- publication status
- published
- subject
- in
- British Journal of Haematology
- volume
- 169
- issue
- 4
- pages
- 479 - 491
- publisher
- Wiley-Blackwell
- external identifiers
-
- pmid:25753742
- wos:000353961600002
- scopus:84928422464
- pmid:25753742
- ISSN
- 0007-1048
- DOI
- 10.1111/bjh.13342
- language
- English
- LU publication?
- yes
- id
- c66bc92a-4443-4fb9-8d5b-0883d38465a7 (old id 5264893)
- alternative location
- http://www.ncbi.nlm.nih.gov/pubmed/25753742?dopt=Abstract
- date added to LUP
- 2016-04-01 10:48:35
- date last changed
- 2022-08-27 20:54:59
@article{c66bc92a-4443-4fb9-8d5b-0883d38465a7,
abstract = {{The IKZF1 gene at 7p12.2 codes for IKAROS (also termed IKZF1), an essential transcription factor in haematopoiesis involved primarily in lymphoid differentiation. Its importance is underlined by the fact that deregulation of IKAROS results in leukaemia in both mice and men. During recent years, constitutional as well as acquired genetic changes of IKZF1 have been associated with human disease. For example, certain germline single nucleotide polymorphisms in IKZF1 have been shown to increase the risk of some disorders and abnormal expression and somatic rearrangements, mutations and deletions of IKZF1 (ΔIKZF1) have been detected in a wide variety of human malignancies. Of immediate clinical importance is the fact that ΔIKZF1 occurs in 15% of paediatric B-cell precursor acute lymphoblastic leukaemia (BCP ALL) and that the presence of ΔIKZF1 is associated with an increased risk of relapse and a poor outcome; in some studies such deletions have been shown to be an independent risk factor also when minimal residual disease data are taken into account. However, cooperative genetic changes, such as ERG deletions and CRLF2 rearrangements, may modify the prognostic impact of ΔIKZF1, for better or worse. This review summarizes our current knowledge of IKZF1 abnormalities in human disease, with an emphasis on BCP ALL.}},
author = {{Olsson, Linda and Johansson, Bertil}},
issn = {{0007-1048}},
language = {{eng}},
number = {{4}},
pages = {{479--491}},
publisher = {{Wiley-Blackwell}},
series = {{British Journal of Haematology}},
title = {{Ikaros and leukaemia.}},
url = {{http://dx.doi.org/10.1111/bjh.13342}},
doi = {{10.1111/bjh.13342}},
volume = {{169}},
year = {{2015}},
}