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t(2;8)(p23;p11) KAT6A::ASXL2

Written2013-11Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
Atlas_Id 1427

Clinics and Pathology

Disease Treatment-related myelodysplastic syndrome (t-MDS)
Epidemiology Only one case to date, a 6-year old girl who have had a M2 acute myeloid leukemia (M2-AML) with a t(8;21)(q22;q22), treated with epipodophyllotoxin, 17 months before onset of a therapy related myelodysplasia. She died 14 months after diagnosis of the t-MDS (Imamura et al., 2003).

Genes involved and Proteins

Gene NameASXL2 (additional sex combs like 2, transcriptional regulator)
Location 2p23.3
Protein Polycomb-group (PcG) and trithorax-group (trxG) proteins regulate histone methylation to establish repressive and active chromatin configurations in Drosophila. Mutations in Asx (the homolog of ASXL2) enhance both Polycomb-group (PcG) and trithorax-group (trxG) mutant phenotypes (Baskind et al., 2009). ASXL2 is an enhancer of PcG activity. ASXL2 and the histone methyltansferase EZH2 (7q36) directly represses MYH7 (14q11) (Beta-Myosin Heavy Chain) (Lai et al., 2012). ASXL2 is implicated in prostate, breast, pancreatic cancers (review in Katoh, 2013). EPC1-ASXL2 fusion gene has been found in adult T-cell leukaemia/lymphoma with a t(2;10)(p23;p11) (Nakahata et al., 2009). EPC1 (10p11) is also a component of the histone acetyltransferase complex.
Gene NameKAT6A (MYST histone acetyltransferase (monocytic leukemia) 3
Location 8p11.21
Note KAT6A is also known as MYST3, or MOZ.
Protein KAT6A is a histone acetyltransferase (HAT). KAT6A has intrinsic HAT activity; KAT6A also forms complexes with MEAF6 (1p34), ING5 (2q37), and BRPF1 (3p25) to acetylate histones H3. KAT6A is a transcriptional co-activator; it interacts with RUNX1 (21q22) and SPI1/PU.1 (11p11) to regulate the expression of haematopoietic-related genes; KAT6A and MLL (11q23), an histone methyltransferase, cooperate to regulate HOX genes, which are key genes in human cord blood CD34+ cells progenitors, and are critical for leukemogenesis. KAT6A is also an epigenetic regulator of haematopoiesis (reviews in Perez-Campo et al., 2013; Yang and Ullah, 2007).

Result of the chromosomal anomaly

Hybrid gene
Description Exons 2-13 of ASXL2 are fused to exons 1-14 of the KAT6A (Katoh and Katoh, 2004).

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


Functional conservation of Asxl2, a murine homolog for the Drosophila enhancer of trithorax and polycomb group gene Asx.
Baskind HA, Na L, Ma Q, Patel MP, Geenen DL, Wang QT.
PLoS One. 2009;4(3):e4750. doi: 10.1371/journal.pone.0004750. Epub 2009 Mar 9.
PMID 19270745
Rearrangement of the MOZ gene in pediatric therapy-related myelodysplastic syndrome with a novel chromosomal translocation t(2;8)(p23;p11).
Imamura T, Kakazu N, Hibi S, Morimoto A, Fukushima Y, Ijuin I, Hada S, Kitabayashi I, Abe T, Imashuku S.
Genes Chromosomes Cancer. 2003 Apr;36(4):413-9.
PMID 12619166
Identification and characterization of ASXL3 gene in silico.
Katoh M, Katoh M.
Int J Oncol. 2004 Jun;24(6):1617-22.
PMID 15138607
Functional and cancer genomics of ASXL family members.
Katoh M.
Br J Cancer. 2013 Jul 23;109(2):299-306. doi: 10.1038/bjc.2013.281. Epub 2013 Jun 4. (REVIEW)
PMID 23736028
Maintenance of adult cardiac function requires the chromatin factor Asxl2.
Lai HL, Grachoff M, McGinley AL, Khan FF, Warren CM, Chowdhury SA, Wolska BM, Solaro RJ, Geenen DL, Wang QT.
J Mol Cell Cardiol. 2012 Nov;53(5):734-41. doi: 10.1016/j.yjmcc.2012.08.014. Epub 2012 Aug 27.
PMID 23046516
Alteration of enhancer of polycomb 1 at 10p11.2 is one of the genetic events leading to development of adult T-cell leukemia/lymphoma.
Nakahata S, Saito Y, Hamasaki M, Hidaka T, Arai Y, Taki T, Taniwaki M, Morishita K.
Genes Chromosomes Cancer. 2009 Sep;48(9):768-76. doi: 10.1002/gcc.20681.
PMID 19484761
The MYSTerious MOZ, a histone acetyltransferase with a key role in haematopoiesis.
Perez-Campo FM, Costa G, Lie-a-Ling M, Kouskoff V, Lacaud G.
Immunology. 2013 Jun;139(2):161-5. doi: 10.1111/imm.12072. (REVIEW)
PMID 23347099
MOZ and MORF, two large MYSTic HATs in normal and cancer stem cells.
Yang XJ, Ullah M.
Oncogene. 2007 Aug 13;26(37):5408-19. (REVIEW)
PMID 17694082


This paper should be referenced as such :
Huret, JL
t(2;8)(p23;p11) KAT6A/ASXL2
Atlas Genet Cytogenet Oncol Haematol. 2014;18(7):516-517.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes KAT6A

Translocations implicated (Data extracted from papers in the Atlas)

 t(2;8)(p23;p11) KAT6A/ASXL2

External links

KAT6A (8p11.21) ASXL2 (2p23.3)

KAT6A (8p11.21) ASXL2 (2p23.3)

Mitelman databaset(2;8)(p23;p11)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9920/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseKAT6A::ASXL2 [MCList]  KAT6A (8p11.21) ASXL2 (2p23.3)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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