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t(8;16)(p11;p13) KAT6A::CREBBP in treatment related leukemia

Written2003-10Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
Atlas_Id 1302
Note This data is extracted from a very large study from an International Workshop on treatment related leukemias - restricted to balanced chromosome aberrations (i.e.: -5/del(5q)and -7/del(7q) not taken into account per see), published in Genes,Chromosomes and Cancer in 2002.
  t(8;16)(p11;p13) CREBBP/KAT6A G- banding - Courtesy Melanie Zenger and Claudia Haferlach. R-banded karyotype and FISH using dual color dual fusion probe KAT6A/CREBBP (8p11/16p13)(Cytotest) - Courtesy Karolien Beel, Peter Meeus, Geneviève Ameye and Lucienne Michaux

Clinics and Pathology

Disease Treatment related myelodysplasia (t-MDS) or acute myeloid leukaemias (t-AML)
Note The study included 9 cases; t-MDS with progression to AML accounted for 1 of 9 cases, and t-AML for the remaining 8 cases; no case of acute lymphoblastic leukaemia
Epidemiology t(8;16)(p11;p13) was found in 2% of t-MDS/t-AML; sex ratio: 5M/4F
Clinics Age at diagnosis of the primary disease 33 yrs (range 6-70); age at diagnosis of the t-MDS/t-AML: 41 yrs (range 7-71). Median interval was 17 mths (range: 13-202). Primary disease was a solid tumor in 9 of 9 cases; treatment was radiotherapy in 1 case, chemotherapy in 2 of 9 cases, or both (6/9). Treatment included topoisomerase II inhibitors in 6 of 8 cases and alkylating agents in 7/8.
Prognosis Median survival was very poor: 5 mths, with 39% of patients surviving at 1 yr, and none at 2 yrs.


Additional anomalies Complex karyotypes were found in 4 of 9 cases.

Result of the chromosomal anomaly

Hybrid gene
Description 5' MOZ -3' CBP


Rare recurring balanced chromosome abnormalities in therapy-related myelodysplastic syndromes and acute leukemia: report from an international workshop.
Block AW, Carroll AJ, Hagemeijer A, Michaux L, van Lom K, Olney HJ, Baer MR
Genes, chromosomes & cancer. 2002 ; 33 (4) : 401-412.
PMID 11921274


This paper should be referenced as such :
Huret, JL
t(8;16)(p11;p13) in treatment related leukemia
Atlas Genet Cytogenet Oncol Haematol. 2004;8(1):24-24.
Free journal version : [ pdf ]   [ DOI ]
On line version :

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

Genes EP300

Translocations implicated (Data extracted from papers in the Atlas)

 t(8;16)(p11;p13) KAT6A/CREBBP in treatment related leukemia

External links

KAT6A (8p11.21) CREBBP (16p13.3)

KAT6A (8p11.21) CREBBP (16p13.3)

Mitelman databaset(8;16)(p11;p13)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9920/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseKAT6A::CREBBP [MCList]  KAT6A (8p11.21) CREBBP (16p13.3)
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