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 |
Other genes implicated (Data extracted from papers in the Atlas) [ 1 ] |
Genes | RUNX1 |
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 Dec 14 18:26:45 CET 2020 |
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