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t(6;21)(p22;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 9920/3 Therapy-related myeloid neoplasms
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1266

Clinics and Pathology

Disease Treatment related myelodysplastic syndrome (refractory anemia with excess of blasts: RAEB)
Etiology RAEB occurred 60 w after diagnosis of an acute lymphoblastic leukemia treated with topoisomerase II inhibitors
Epidemiology only one case to date, a 4 yr old female patient
Prognosis the patient died 10 mths after diagnosis

Cytogenetics

Cytogenetics Morphological a t(2;11)(p23;q23) with MLL involvement was also present in the same clone

Genes involved and Proteins

Note The gene in 6p22 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

Concurrent translocations of MLL and CBFA2 (AML1) genes with new partner breakpoints in a child with secondary myelodysplastic syndrome after treatment of acute lymphoblastic leukemia.
Mathew S, Head D, Rubnitz JE, Raimondi SC
Genes, chromosomes & cancer. 2000 ; 28 (2) : 227-232.
PMID 10825008
 
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
 

Citation

This paper should be referenced as such :
Huret, JL
t(6;21)(p22;q22)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(2):116-116.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0621p22q22ID1266.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(6;21)(p22;q22) RUNX1-?

External links

Mitelman databaset(6;21)(p22;q22) [Case List]    t(6;21)(p22;q22) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9920/3) - 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(6;21)(p22;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 Jan 27 12:50:55 CET 2017


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