| Identity |
| 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. |
| Clinics and Pathology |
| Disease | Treatment related myelodysplasia (t-MDS) or acute non lymphocytic leukaemias (t-ANLL) |
| Note | The study included 17 cases; t-MDS without progression to ANLL accounted for 18%, t-MDS with progression to ANLL for 18% and t-ANLL 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-ANLL; 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-ANLL: 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. |
| Cytogenetics |
| Additional anomalies | 3q21q26 rearrangements included inv(3)(q21q26) in 71% of cases, t(3;3)(q21q26)in 23%, and ins(3)(q26;q21q26) in 1 case (6%); additional anomalies were: -7/del(7q) in 82%, -5/del(5q) in 35 %, del(6q) and del(20q) in 12 % each. Complex karyotypes were found in 53%. |
| Genes involved and Proteins |
| Gene Name | EVI1 |
| Location | 3q26 |
| Gene Name | RPN1 (ribophorin 1) |
| Location | 3q21 |
| Result of the chromosomal anomaly |
| Description | RPN1enhancer juxtaposed to EVI1 |
| To be noted |
| Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section. |
| Bibliography |
| Rare recurring balanced chromosome abnormalities in therapy-related myelodysplastic syndromes and acute leukemia: report from an international workshop. |
| Block AW, Carroll AJ, Hagemeijer A, Michaux L, van Lom K, Olney HJ, Baer MR |
| Genes, chromosomes & cancer. 2002 ; 33 (4) : 401-412. |
| PMID 11921274 |
| Contributor(s) |
| Written | 05-2005 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . 3q21q26 rearrangements in treatment related leukemia. Atlas Genet Cytogenet Oncol Haematol. May 2005 . URL : http://AtlasGeneticsOncology.org/Genes/3q21q26TreatRelLeukID1236.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Sep 24 21:05:24 2008 |
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