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t(11;18)(p15;q12) NUP98/SETBP1

Written2011-10Jean-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 1466

Clinics and Pathology

Disease T-cell acute lymphoid leukemia (T-ALL)
Epidemiology One case to date, a 9-year-old boy.
Evolution Remission was obtained and the patient remains in complete remission 28 months after diagnosis.

Cytogenetics

Cytogenetics Morphological The translocation was accompanied with a del(12p).

Genes involved and Proteins

Gene Name NUP98
Location 11p15.4
Protein Nucleoporin: associated with the nuclear pore complex. Role in nucleocytoplasmic transport processes.
Gene Name SETBP1
Location 18q12.3
Protein Contains 3 DNA binding domains (A.T hooks). SETBP1 protects SET from protease cleavage. SETBP1 forms a complex with SET and PP2A (protein phosphatase 2A). SETBP1 impairs PP2A activity via SET and promotes proliferation of acute myeloid leukemia cells (Cristóbal et al., 2010).
Germinal mutations In Schinzel-Giedion midface retraction syndrome.

Result of the chromosomal anomaly

Hybrid gene
Description 5' NUP98 - 3' SETBP1
Transcript Exon 12 of NUP98 (nucleotide (nt) 1552) fused in-frame with exon 5 of SETBP1 (nt 4015).
  

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

SETBP1 overexpression is a novel leukemogenic mechanism that predicts adverse outcome in elderly patients with acute myeloid leukemia.
Cristobal I, Blanco FJ, Garcia-Orti L, Marcotegui N, Vicente C, Rifon J, Novo FJ, Bandres E, Calasanz MJ, Bernabeu C, Odero MD.
Blood. 2010 Jan 21;115(3):615-25. Epub 2009 Nov 16.
PMID 19965692
 
Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12).
Panagopoulos I, Kerndrup G, Carlsen N, Strombeck B, Isaksson M, Johansson B.
Br J Haematol. 2007 Jan;136(2):294-6.
PMID 17233820
 

Citation

This paper should be referenced as such :
Huret, JL
t(11;18)(p15;q12)
Atlas Genet Cytogenet Oncol Haematol. 2012;16(3):233-233.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1118p15q12ID1466.html


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

Genes SETBP1

Translocations implicated (Data extracted from papers in the Atlas)

 t(11;18)(p15;q12) NUP98/SETBP1

External links

NUP98 (11p15.4) SETBP1 (18q12.3)

NUP98 (11p15.4) SETBP1 (18q12.3)

Mitelman databaset(11;18)(p15;q12) [Case List]    t(11;18)(p15;q12) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9837/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseNUP98/SETBP1 [MCList]  NUP98 (11p15.4) SETBP1 (18q12.3)
TICdbNUP98/SETBP1  NUP98 (11p15.4) SETBP1 (18q12.3)
 
Disease databaset(11;18)(p15;q12) NUP98/SETBP1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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