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

2003-10-01 Jean-Loup Huret Affiliation

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

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.

Result of the Chromosomal Anomaly

Description

5 MOZ -3 CBP

Highly cited references

Pubmed ID	Year	Title	Citations
24798186	2014	Comparison between karyotyping-FISH-reverse transcription PCR and RNA-sequencing-fusion gene identification programs in the detection of KAT6A-CREBBP in acute myeloid leukemia.	38
36977512	2023	De novo monocytic-M5b AML with t(8;16) (p11.2; p13.3) KAT6A/CREBBP fusion and FLT3-TKD mutation complicated by chemotherapy-induced Takotsubo cardiomyopathy.	16
38614931	2024	Fatal outcome of a rare acute myeloid leukemia with t(8;16)(p11.2;p13.3) and KAT6A::CREBBP gene fusion in a young man.	10
32519830	2020	Acute Monoblastic Leukemia with Erythrophagocytosis and Absence of KAT6A Rearrangement.	4
28097792	2017	FISH 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.	0
28871137	2018	C-terminal BRE overexpression in 11q23-rearranged and t(8;16) acute myeloid leukemia is caused by intragenic transcription initiation.	0
29806701	2018	Neonatal leukaemia.	0
30759270	2019	Acute myeloid leukemia with t(8;16)(p11.2;p13.3)/KAT6A-CREBBP in adults.	0
32889804	2020	Acute 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
34497221	2021	[Acute leukemia of infants and neonates].	0

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Article Bibliography

Pubmed ID	Last Year	Title	Authors
11921274	2002	Rare recurring balanced chromosome abnormalities in therapy-related myelodysplastic syndromes and acute leukemia: report from an international workshop.	Block AW et al

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Summary

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

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, Geneviu00e8ve Ameye and Lucienne Michaux

Citation

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/js/favicon/case-report-explorer/