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21q22 rearrangements (RUNX1) 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 1296
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;21)(q22;q22) RUNX1/RUNX1T1 . Fluorescence in situ hybridization with the Vysis LSI RUNX1/RUNX1T1 dual color dual fusion probes (Abbott Molecular, US) showing 2 copies of genes on normal (A) and fusion red-green signals on der(8) and der(21) chromosomes, the most frequently encountered FISH pattern in patients with t(8;21)(q22;q22) (B). Variations in the FISH patterns include the presence of 1 fusion signal on der(8) chromosome (C), insertion of RUNX1T1 into chromosome 21 (D) and cryptic fusion gene on der(21) with normal appearing chromosomes (E). Courtesy Adriana Zamecnikova.

Clinics and Pathology

Disease Treatment related myelodysplasia (t-MDS) or acute non lymphocytic leukaemias (t-AML)
Note The study included 79 cases; t-MDS without progression to AML accounted for 15%, t-MDS progressing to AML for 18%, t-AML for the remaining 67%; there was no case of acute lymphoblastic leukaemia
Phenotype / cell stem origin MDS cases were frequently refractory anemia with excess of blasts cases; 58% of AML cases were M2 AML
Etiology Frequent antracyclin exposure
Epidemiology 21q22 rearrangements were found in 15% of t-MDS/t-AML; 1M to 1F sex ratio
Clinics Age at diagnosis of the primary disease was 47 yrs (range 2-75); age at diagnosis of the t-MDS/t-AML was 51 yrs (11-77) and median interval was 39 mths (6-306). Primary disease was a solid tumor in 56% of cases (mainly: breast, lung, sarcoma/ PNET, colon cancer) and an hematologic malignancy in 43%. Treatment of the primary disease included radiotherapy (in 6%), chemotherapy (46%) or both (48%). 75% of patients with a 21q22 rearrangement had previously received topoisomerase II inhibitors, a higher proportion than other subgroups of treatment related leukemia, except 11q23 patients, who were 84% to have been exposed to topoisomerase II inhibitors; alkylating agents exposure was higher than in patients with t(15;17) or inv(16)
Treatment Patients who received bone marrow transplantation had a higher median survival (31 mths).
Prognosis Median survival was 14 mths, there was 58% of patients surviving 1 yr, 33% 2 yrs, and 18% 5 yrs., a better outcome than patients with 11q23 rearrangement, 3q21q26 rearrangement, 12p13 rearrangement, t(9;22), or t(8;16) and a worse outcome than those with t(15;17) or inv(16) treatment related leukemias.By th 21q22 group, patients with a t(8;21) had a better outcome, and those with a t(3;21) had a worse outcome.


Cytogenetics Morphological t(8;21)(q22;q22) ( ETO / AML1) was found in 56% of cases, t(3;21)(q26;q22) ( MDS-EVI1 / AML1 in 20 %, t(16;21)(q24;q22) ( CBFA2T3 / AML1) in 5%. Rare recurrent anomalies were: t(1;21)(p36;q22), t(9;21)(p22;q22), t(10;21)(p12;q22), t(15;21)(q21-22;q22), t(17;21)(q12;q22), and t(20;21)(q11;q22)
Additional anomalies -7/del(7q) in 23% of cases (espacially in cases with alkylating agents exposure), +8 in 11%, -5/del(5q) rarely found; complex karyotypes in 28% of cases (more frequently than in treatment related leukemias with a 11q23 rearrangement or a t(15.17))

Genes involved and Proteins

Gene NameRUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Location 21q22.12

Result of the chromosomal anomaly

Hybrid gene
Description 5' AML1 - 3' partner


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
21q22 rearrangements in treatment related leukemia
Atlas Genet Cytogenet Oncol Haematol. 2004;8(1):18-19.
Free journal version : [ pdf ]   [ DOI ]
On line version :

External links

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