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 |
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 : Wed Nov 13 22:13:56 CET 2019 |
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