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t(20;21)(q13;q22) RUNX1/?

Written2003-02Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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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 NameRUNX1 (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

Mitelman databaset(20;21)(q13;q22) [Case List]    t(20;21)(q13;q22) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(20;21)(q13;q22) RUNX1/?
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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indexed on : Mon Sep 18 17:20:19 CEST 2017


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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.