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t(8;21)(q22;q22) RUNX1/RUNX1T1 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 1293
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.

Clinics and Pathology

Disease Treatment related myelodysplasia (t-MDS) or acute myeloid leukaemias (t-AML)
Note The study included 44 cases; t-MDS with or without progression to AML accounted for 20% and t-AML for the remaining 80%; no case of acute lymphoblastic leukaemia
Epidemiology t(8;21)(q22;q22) was found in 9% of t-MDS/t-AML; 1M to 1F sex ratio
Clinics Age at diagnosis of the primary disease 45 yrs (range 2-75); age at diagnosis of the t-MDS/t-AML: 47 yrs for patients with the t(8;21) solely and 50 yrs for patients with an additional anomaly; range was(15-77). Median interval was 39 mths for cases with t(8;21) solely, and 33 mths in other cases; (range: 6-306). Primary disease was a solid tumor in 70% of cases ( breast cancer in particular) and a hematologic malignancy in 30%, treated with radiotherapy (12%), chemotherapy (42%), or both (46%).
Cytology Cell morphology was similar to those of de novo t(8;21)
Prognosis Median survival was 17mths and 31 mths respectively for patients without and with additionnal anomalies, but the difference was not significant. Outcome was better than the outcome of patients with 11q23 rearrangement, 3q21q26 rearrangement, 12p13 rearrangement, t(9;22), t(8;16), or a t(3;21) and worse than the outcome of patients with with t(15;17) or inv(16) treatment related leukemias.


Additional anomalies The t(8;21) was found solely in 25% of cases; additional anomalies were: -Y or -X in 25% of cases, del(9q) in 18 %, +8 in 9%, -7/del(7q) in 7%. A complex karyotype was found in 32% of cases

Result of the chromosomal anomaly

Hybrid gene
Description 5' AML1 - 3' ETO; breakpoint is most often in the AML1 intron 5.


21q22 balanced chromosome aberrations in therapy-related hematopoietic disorders: report from an international workshop.
Slovak ML, Bedell V, Popplewell L, Arber DA, Schoch C, Slater R
Genes, chromosomes & cancer. 2002 ; 33 (4) : 379-394.
PMID 11921272


This paper should be referenced as such :
Huret, JL
t(8;21)(q22;q22) in treatment related leukemia
Atlas Genet Cytogenet Oncol Haematol. 2004;8(1):25-25.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(8;21)(q22;q22) RUNX1/RUNX1T1 in treatment related leukemia

External links

RUNX1 (21q22.12) RUNX1T1 (8q21.3)

RUNX1 (21q22.12) RUNX1T1 (8q21.3)

RUNX1 (21q22.12) RUNX1T1 (8q21.3)

Mitelman databaset(8;21)(q22;q22)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9920/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseRUNX1/RUNX1T1 [MCList]  RUNX1 (21q22.12) RUNX1T1 (8q21.3)
TCGA_FusionRUNX1/RUNX1T1 [LAML]  RUNX1 (21q22.12) RUNX1T1 (8q21.3)
TICdbRUNX1/RUNX1T1  RUNX1 (21q22.12) RUNX1T1 (8q21.3)
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