3q21q26 rearrangements (RPN1/MECOM) in treatment related leukemia
2005-05-01 Jean-Loup Huret Affiliation1.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 ID | Year | Title | Citations |
|---|---|---|---|
| 34668265 | 2022 | Comparison 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 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11921274 | 2002 | Rare 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
