t(3;21)(q26;q22) RUNX1/MECOM 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 16 cases; t-MDS without progression to AML accounted for 38%, t-MDS progressing to AML for 25%, t-AML for the remaining 38% (to be compared with the 80% of t-AML in cases with t(8;21)); no case of acute lymphoblastic leukaemia


t(3;21)(q26;q22) was found in 3% of t-MDS/t-AML; sex ratio: 5M/11F


Age at diagnosis of the primary disease 49 yrs (range 14-72); age at diagnosis of the t-MDS/t-AML: 53 yrs range 19-73). Median interval was 36 mths, range: 17-139). Primary disease was a solid tumor in 56% of cases and a hematologic malignancy in 44%. Treatment included topoisomerase II inhibitors in 81% of cases).


Median survival was 8 mths. Outcome was worse than the outcome of patients with t(8;21)(q22;q22), t(15;17) or inv(16) treatment related leukemias, and similar to the outcome of patients with 11q23 rearrangement

Result of the Chromosomal Anomaly


5 AML1 - 3 MDS1-EVI1; breakpoint is most often in the AML1 intron 6.

Highly cited references

Pubmed IDYearTitleCitations
229500732012Detection of RUNX1-MECOM fusion gene and t(3;21) in a very elderly patient having acute myeloid leukemia with myelodysplasia-related changes.4
326769332020Analytical and Potential Clinical Performance of Oncomine Myeloid Research Assay for Myeloid Neoplasms.2
238068102013Novel real-time polymerase chain reaction assay for simultaneous detection of recurrent fusion genes in acute myeloid leukemia.2
253794092014An unusual case of splenomegaly and increased lactate dehydrogenase heralding acute myeloid leukemia with eosinophilia and RUNX1-MECOM fusion transcripts.1


Pubmed IDLast YearTitleAuthors
11921272200221q22 balanced chromosome aberrations in therapy-related hematopoietic disorders: report from an international workshop.Slovak ML et al


Fusion gene

RUNX1/MECOM RUNX1 (21q22.12) MECOM (3q26.2) M t(3;21)(q26;q22)|RUNX1/MECOM RUNX1 (21q22.12) MECOM (3q26.2) TF LAML


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(3;21)(q26;q22) left: G- banding - top three: Courtesy Melanie Zenger and Claudia Haferlach; bottom three: Courtesy Nathalie Nadal; center: R- banding - top two: Courtesy Peter Meeus; middle two: Courtesy Nathalie Nadal; bottom two: Courtesy Christine Pérot; right: FISH with EVI1 break apart probe Courtesy Marian Stevens-Kroef, and diagram Courtesy Peter Meeus.


Jean-Loup Huret

t(3;21)(q26;q22) RUNX1/MECOM in treatment related leukemia

Atlas Genet Cytogenet Oncol Haematol. 2003-10-01

Online version: http://atlasgeneticsoncology.org/haematological/1294/t(3;21)(q26;q22)-runx1-mecom-in-treatment-related-leukemia