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

Written2008-08Jean-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 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1523
 
  t(X;21)(p11.2;q22) G- banding and FISH - Courtesy Aurelia M. Meloni-Ehrig

Clinics and Pathology

Disease Chronic myelogenous leukemia (CML) in blast crisis; the t(X;21) may be therapy related.
Epidemiology Only one case to date, a female patient aged 23 years (Jeandidier et al., 2006).

Cytogenetics

Additional anomalies t(9;22)(q34;q11), +8, i(17q).

Genes involved and Proteins

Note The partner of RUNX1 is unknown.
Gene Name RUNX1
Location 21q22
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

Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Français de Cytogénétique Hématologique (GFCH).
Jeandidier E, Dastugue N, Mugneret F, Lafage-Pochitaloff M, Mozziconacci MJ, Herens C, Michaux L, Verellen-Dumoulin C, Talmant P, Cornillet-Lefebvre P, Luquet I, Charrin C, Barin C, Collonge-Rame MA, Perot C, Van den Akker J, Gregoire MJ, Jonveaux P, Baranger L, Eclache-Saudreau V, Pages MP, Cabrol C, Terre C, Berger R; Groupe Français de Cytogénétique Hématologique (GFCH).
Cancer Genet Cytogenet. 2006 Apr 1;166(1):1-11.
PMID 16616106
 

Citation

This paper should be referenced as such :
Huret, JL
t(X;21)(p11;q22)
Atlas Genet Cytogenet Oncol Haematol. 2009;13(8):589-590.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0X21p11q22ID1523.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(X;21)(p11;q22) RUNX1/?

External links

Mitelman databaset(X;21)(p11;q22) [Case List]    t(X;21)(p11;q22) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(X;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 : Fri Jan 27 12:51:13 CET 2017


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