3q21q26 rearrangements (RPN1/MECOM) in treatment related leukemia

2005-05-01   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 non lymphocytic leukaemias (t-AML)


The study included 17 cases; t-MDS without progression to AML accounted for 18%, t-MDS with progression to AML for 18% and t-AML for the remaining 64% (M2 or M4 mainly); no case of acute lymphoblastic leukaemia


3q21q26 rearrangements were found in 3% of t-MDS/t-AML; sex ratio: 4M/13F


Age at diagnosis of the primary disease 40 yrs (range 18-69); age at diagnosis of the t-MDS/t-AML: 51 yrs (range 22-80). Median interval was 104 mths (range: 48-217). Primary disease was a solid tumor in 47% of cases and a hematologic malignancy in 53% ( Hodgkin disease and non Hodgkin lymphoma in particular), treatment was chemotherapy (18%), radiotherapy (29%), or both chemotherapy and radiotherapy (53%). Chemotherapy included topoisomerase II inhibitors in 42% of cases and alkylating agents in 100%.


Median survival was 7 mths, with 30% of patients surviving at 1 yr, and 20% at 2 yrs.

Genes Involved and Proteins

Gene name
MECOM (Ecotropic Viral Integration Site 1 (EVI1) and Myelodysplastic Syndrome 1 (MDS1-EVI1)
Gene name
RPN1 (ribophorin I)

Result of the Chromosomal Anomaly


RPN1enhancer juxtaposed to EVI1

Highly cited references

Pubmed IDYearTitleCitations
346682652022Comparison of myeloid neoplasms with nonclassic 3q26.2/MECOM versus classic inv(3)/t(3;3) rearrangements reveals diverse clinicopathologic features, genetic profiles, and molecular mechanisms of MECOM activation.0


Pubmed IDLast YearTitleAuthors
119212742002Rare recurring balanced chromosome abnormalities in therapy-related myelodysplastic syndromes and acute leukemia: report from an international workshop.Block AW et al



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.


Jean-Loup Huret

3q21q26 rearrangements (RPN1/MECOM) in treatment related leukemia

Atlas Genet Cytogenet Oncol Haematol. 2005-05-01

Online version: http://atlasgeneticsoncology.org/haematological/1236/3q21q26-rearrangements-(rpn1-mecom)-in-treatment-related-leukemia