| 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 | 9837/3 T lymphoblastic leukaemia/lymphoma |
| Atlas_Id | 1262 |
| Clinics and Pathology |
| Disease | T-cell acute lymphoblastic leukemia (T-ALL) |
| Epidemiology | Only one case to date, a 12 year old male patient. |
| Prognosis | Unknown. |
| Cytogenetics |
| Cytogenetics Morphological | A del(7q) was also present in the same clone. |
| Genes involved and Proteins |
| Note | The gene in 4q31 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 |
| A new translocation that rearranges the AML1 gene in a patient with T-cell acute lymphoblastic leukemia. |
| Mikhail FM, Serry KA, Hatem N, Mourad ZI, Farawela HM, El Kaffash DM, Coignet L, Nucifora G |
| Cancer genetics and cytogenetics. 2002 ; 135 (1) : 96-100. |
| PMID 12072207 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(4;21)(q31;q22) |
| Atlas Genet Cytogenet Oncol Haematol. 2003;7(2):114-114. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t0421q31q22ID1262.html |
| Other genes implicated (Data extracted from papers in the Atlas) [ 2 ] |
| Genes | RUNX1 |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(4;21)(q31;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 May 14 13:39:46 CEST 2018 |
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