| Written | 2003-10 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
| ICD-Morpho | 9920/3 Therapy-related myeloid neoplasms |
| Atlas_Id | 1296 |
| 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-AML) |
| Note | The study included 79 cases; t-MDS without progression to AML accounted for 15%, t-MDS progressing to AML for 18%, t-AML for the remaining 67%; there was no case of acute lymphoblastic leukaemia |
| Phenotype / cell stem origin | MDS cases were frequently refractory anemia with excess of blasts cases; 58% of AML cases were M2 AML |
| Etiology | Frequent antracyclin exposure |
| Epidemiology | 21q22 rearrangements were found in 15% of t-MDS/t-AML; 1M to 1F sex ratio |
| Clinics | Age at diagnosis of the primary disease was 47 yrs (range 2-75); age at diagnosis of the t-MDS/t-AML was 51 yrs (11-77) and median interval was 39 mths (6-306). Primary disease was a solid tumor in 56% of cases (mainly: breast, lung, sarcoma/ PNET, colon cancer) and an hematologic malignancy in 43%. Treatment of the primary disease included radiotherapy (in 6%), chemotherapy (46%) or both (48%). 75% of patients with a 21q22 rearrangement had previously received topoisomerase II inhibitors, a higher proportion than other subgroups of treatment related leukemia, except 11q23 patients, who were 84% to have been exposed to topoisomerase II inhibitors; alkylating agents exposure was higher than in patients with t(15;17) or inv(16) |
| Treatment | Patients who received bone marrow transplantation had a higher median survival (31 mths). |
| Prognosis | Median survival was 14 mths, there was 58% of patients surviving 1 yr, 33% 2 yrs, and 18% 5 yrs., a better outcome than patients with 11q23 rearrangement, 3q21q26 rearrangement, 12p13 rearrangement, t(9;22), or t(8;16) and a worse outcome than those with t(15;17) or inv(16) treatment related leukemias.By th 21q22 group, patients with a t(8;21) had a better outcome, and those with a t(3;21) had a worse outcome. |
| Cytogenetics |
| Cytogenetics Morphological | t(8;21)(q22;q22) ( ETO / AML1) was found in 56% of cases, t(3;21)(q26;q22) ( MDS-EVI1 / AML1 in 20 %, t(16;21)(q24;q22) ( CBFA2T3 / AML1) in 5%. Rare recurrent anomalies were: t(1;21)(p36;q22), t(9;21)(p22;q22), t(10;21)(p12;q22), t(15;21)(q21-22;q22), t(17;21)(q12;q22), and t(20;21)(q11;q22) |
| Additional anomalies | -7/del(7q) in 23% of cases (espacially in cases with alkylating agents exposure), +8 in 11%, -5/del(5q) rarely found; complex karyotypes in 28% of cases (more frequently than in treatment related leukemias with a 11q23 rearrangement or a t(15.17)) |
| Genes involved and Proteins |
| Gene Name | RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)) |
| Location | 21q22.12 |
| Result of the chromosomal anomaly |
| Description | 5' AML1 - 3' partner |
| Bibliography |
| 21q22 balanced chromosome aberrations in therapy-related hematopoietic disorders: report from an international workshop. |
| Slovak ML, Bedell V, Popplewell L, Arber DA, Schoch C, Slater R |
| Genes, chromosomes & cancer. 2002 ; 33 (4) : 379-394. |
| PMID 11921272 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| 21q22 rearrangements in treatment related leukemia |
| Atlas Genet Cytogenet Oncol Haematol. 2004;8(1):18-19. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/21q22TreatRelLeukID1296.html |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Sep 18 17:18:19 CEST 2017 |
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