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

Disease

Treatment related myelodysplasia (t-MDS) or acute non lymphocytic leukaemias (t-AML)

Note

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

Epidemiology

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

Clinics

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%.

Prognosis

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)
Location
3q26.2
Gene name
RPN1 (ribophorin I)
Location
3q21.3

Result of the Chromosomal Anomaly

Description

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

Bibliography

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

Summary

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.

Citation

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