t(8;16)(p11;p13) KAT6A/CREBBP in treatment related leukemia
2003-10-01 Jean-Loup Huret Affiliation1.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.
Genes Involved and Proteins
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 |
| 29806701 | 2018 | Neonatal leukaemia. | 0 |
| 35303627 | 2022 | Monitoring KAT6A-CREBBP measurable residual disease in t(8;16) therapy-related acute myeloid leukemia. | 0 |
| 35766063 | 2022 | Second AML with disseminated intravascular coagulation and blast erythrophagocytosis revealing a t(8,16) KAT6A/CREBBP. | 0 |
| 30759270 | 2019 | Acute myeloid leukemia with t(8;16)(p11.2;p13.3)/KAT6A-CREBBP in adults. | 0 |
| 34497221 | 2021 | [Acute leukemia of infants and neonates]. | 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 |
| 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 |
| 34698340 | 2022 | Distinctive Flow Cytometric and Mutational Profile of Acute Myeloid Leukemia With t(8;16)(p11;p13) Translocation. | 0 |
| 39672769 | 2024 | Next-generation sequencing RNA fusion panel for the diagnosis of haematological malignancies. | 0 |
| 28871137 | 2018 | C-terminal BRE overexpression in 11q23-rearranged and t(8;16) acute myeloid leukemia is caused by intragenic transcription initiation. | 0 |
| 39633068 | 2025 | HMX3 is a critical vulnerability in MECOM-negative KMT2A::MLLT3 acute myelomonocytic leukemia. | 0 |
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 |
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/t(8;16)(p11;p13)-kat6a-crebbp-in-treatment-related-leukemia
