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

2003-10-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


Treatment related myelodysplasia (t-MDS) or acute myeloid leukaemias (t-AML)


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


t(8;16)(p11;p13) was found in 2% of t-MDS/t-AML; sex ratio: 5M/4F


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.


Median survival was very poor: 5 mths, with 39% of patients surviving at 1 yr, and none at 2 yrs.

Result of the Chromosomal Anomaly


5 MOZ -3 CBP

Highly cited references

Pubmed IDYearTitleCitations
298067012018Neonatal leukaemia.11
247981862014Comparison between karyotyping-FISH-reverse transcription PCR and RNA-sequencing-fusion gene identification programs in the detection of KAT6A-CREBBP in acute myeloid leukemia.11
307592702019Acute myeloid leukemia with t(8;16)(p11.2;p13.3)/KAT6A-CREBBP in adults.4
280977922017FISH identifies a KAT6A/CREBBP fusion caused by a cryptic insertional t(8;16) in a case of spontaneously remitting congenital acute myeloid leukemia with a normal karyotype.3
288711372018C-terminal BRE overexpression in 11q23-rearranged and t(8;16) acute myeloid leukemia is caused by intragenic transcription initiation.2
346983402022Distinctive Flow Cytometric and Mutational Profile of Acute Myeloid Leukemia With t(8;16)(p11;p13) Translocation.1
357660632022Second AML with disseminated intravascular coagulation and blast erythrophagocytosis revealing a t(8,16) KAT6A/CREBBP.0
353036272022Monitoring KAT6A-CREBBP measurable residual disease in t(8;16) therapy-related acute myeloid leukemia.0
344972212021[Acute leukemia of infants and neonates].0
325198302020Acute Monoblastic Leukemia with Erythrophagocytosis and Absence of KAT6A Rearrangement0
328898042020Acute Myeloid Leukemia with t(8;16)(p11.2;p13.3)/ KAT6A-CREBBP in a Patient with an NF1 Germline Mutation and Clinical Presentation Mimicking Acute Promyelocytic Leukemia.0


Pubmed IDLast YearTitleAuthors
119212742002Rare recurring balanced chromosome abnormalities in therapy-related myelodysplastic syndromes and acute leukemia: report from an international workshop.Block AW et al


Fusion gene

KAT6A/CREBBP KAT6A (8p11.21) CREBBP (16p13.3) M t(8;16)(p11;p13)|KAT6A/CREBBP KAT6A (8p11.21) CREBBP (16p13.3) TIC


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.
Atlas Image
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, Geneviu00e8ve Ameye and Lucienne Michaux


Jean-Loup Huret

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

Atlas Genet Cytogenet Oncol Haematol. 2003-10-01

Online version: http://atlasgeneticsoncology.org/haematological/1302/t(8;16)(p11;p13)-kat6a-crebbp-in-treatment-related-leukemia