| 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 | 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS |
| ICD-Morpho | 9989/3 Myelodysplastic syndrome, unclassifiable |
| Atlas_Id | 1264 |
| Clinics and Pathology |
| Disease | refractory anemia with excess of blasts and M5- acute myeloid leukemia |
| Etiology | tretment of a non Hodgkin lymphoma 2 yrs before diagnosis in 1 case |
| Epidemiology | only 2 male patient cases, aged 38 yrs and 69 yrs |
| Cytogenetics |
| Cytogenetics Morphological | Complex karyotypes in 1 case, +10 in the other one |
| Genes involved and Proteins |
| Note | The gene in 20q13 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 |
| Identification of two new translocations that disrupt the AML1 gene. |
| Richkind K, Hromas R, Lytle C, Crenshaw D, Velasco J, Roherty S, Srinivasiah J, Varella-Garcia M |
| Cancer genetics and cytogenetics. 2000 ; 122 (2) : 141-143. |
| PMID 11106827 |
| Abnormalities of 3q21 and 3q26 in myeloid malignancy: a United Kingdom Cancer Cytogenetic Group study. |
| Secker-Walker LM, Mehta A, Bain B |
| British journal of haematology. 1995 ; 91 (2) : 490-501. |
| PMID 8547101 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(20;21)(q13;q22) |
| Atlas Genet Cytogenet Oncol Haematol. 2003;7(2):121-121. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t2021q13q22ID1264.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(20;21)(q13;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 : Mon Jan 27 15:17:30 CET 2020 |
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