| Written | 2003-02 | 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 |
| ICD-Morpho | 9989/3 Myelodysplastic syndrome, unclassifiable |
| Atlas_Id | 1270 |
| Clinics and Pathology |
| Disease | Treatment related myelodysplastic syndrome (MDS) evolving towards acute myeloid leukemia |
| Etiology | the patient experienced a mantle cell lymphoma 52 mths before diagnosis of MDS |
| Epidemiology | only one case to date, a 56 yr old male patient |
| Cytogenetics |
| Cytogenetics Morphological | sole anomaly |
| Genes involved and Proteins |
| Note | The gene in 15q22 is yet unknown, and, because cryptic t(12;21) ETV6 /AML1 are not rare, it is therefore uncertain whether this translocation involve a new AML1 partner |
| Gene Name | RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)) |
| Location | 21q22.12 |
| Dna / Rna | transcription is from telomere to centromere |
| Protein | contains a Runt domain and, in the C-term, a transactivation domain; forms heterodimers; widely expressed; nuclear localisation; transcription factor (activator) for various hematopoietic-specific genes |
| 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 |
| Novel cryptic, complex rearrangements involving ETV6-CBFA2 (TEL-AML1) genes identified by fluorescence in situ hybridization in pediatric patients with acute lymphoblastic leukemia. |
| Mathew S, Shurtleff SA, Raimondi SC |
| Genes, chromosomes & cancer. 2001 ; 32 (2) : 188-193. |
| PMID 11550288 |
| CBFA2(AML1) translocations with novel partner chromosomes in myeloid leukemias: association with prior therapy. |
| Roulston D, Espinosa R 3rd, Nucifora G, Larson RA, Le Beau MM, Rowley JD |
| Blood. 1998 ; 92 (8) : 2879-2885. |
| PMID 9763573 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(15;21)(q22;q22) |
| Atlas Genet Cytogenet Oncol Haematol. 2003;7(2):120-120. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t1521q22q22ID1270.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(15;21)(q22;q22) RUNX1/? | |
| 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 : Thu Aug 16 12:54:04 CEST 2018 |
For comments and suggestions or contributions, please contact us