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t(2;21)(p11;q22) RUNX1/?

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

(Note : for Links provided by Atlas : click)

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
Atlas_Id 1261

Clinics and Pathology

Disease M1 acute non lymhocytic leukemia (AML)
Etiology no known prior exposure
Epidemiology only one case to date, a 78 yr old male patient
Prognosis death occurred during induction therapy

Cytogenetics

Cytogenetics Morphological sole anomaly in this patient

Genes involved and Proteins

Note The gene in 2p11 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
Location 21q22
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
 

Citation

This paper should be referenced as such :
Huret, JL
t(2;21)(p11;q22)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(2):113-113.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0221p11q22ID1261.html


Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes RUNX1

Translocations implicated (Data extracted from papers in the Atlas)

 t(2;21)(p11;q22) RUNX1/?

External links

Mitelman databaset(2;21)(p11;q22) [Case List]    t(2;21)(p11;q22) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(2;21)(p11;q22) RUNX1/?
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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indexed on : Thu Jan 12 11:18:13 CET 2017


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