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t(4;21)(q31;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 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
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
 
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 FGA7

Translocations implicated (Data extracted from papers in the Atlas)

 t(4;21)(q31;q22) RUNX1/?

External links

Mitelman databaset(4;21)(q31;q22) [Case List]    t(4;21)(q31;q22) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9837/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(4;21)(q31;q22) RUNX1/?
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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indexed on : Fri Jun 30 11:23:10 CEST 2017


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