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t(1;11)(q23;p15) NUP98/PRRX1

Written2005-09Jean-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
Atlas_Id 1169

Clinics and Pathology

Disease Acute myeloid leukemia (AML), M2-AML type; this leukemia case is likely to be treatment related (see below)
Epidemiology only 1 case to date, a 55yr old male patient who has had a non Hodgkin lymphoma (NHL) with t(14;18)(q32;q21) 3 yrs before onset of the AML.
Evolution Complete remission of the AML was achieved, but the NHL relapsed and an advanced gastric carcinoma was found and the patient died shortly afterwards.

Genes involved and Proteins

Note This translocation appears to be closely related to other translocations involving NUP98 and an homeodomain bearing protein, i.e. the t(2;11)(q31;p15),.with HOXD13 or with HOXD11 involvement, the t(7;11)(p15;p15),.with HOXA9 or with HOXA13 involvement, the t(9;11)(q34;p15), with PRRX2 involvement, and the t(11;12)(p15;q13) ID: n°identif> with HOXC11 or with involvement
Gene NamePRRX1 (paired related homeobox 1)
Location 1q24.2
Protein Protein with a homeodomain

Result of the chromosomal anomaly

Hybrid gene
Description In frame fusion of NUP98 to PRRX1 exon 2; no reciprocal fusion transcript
  
Fusion Protein
Description The chimeric protein contains the N-term half of NUP98, including the docking site to the homeodomain of PRRX1.
Oncogenesis The PRRX1 homeodomain may be upregulated
  

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

Translocation (1;11)(q23;p15), a novel simple variant of translocation (7;11)(p15;p15), in a patient with AML (M2) accompanied by non-Hodgkin lymphoma and gastric cancer.
Hatano Y, Miura I, Kume M, Miura AB
Cancer genetics and cytogenetics. 2000 ; 117 (1) : 19-23.
PMID 10700860
 
NUP98 is fused to PMX1 homeobox gene in human acute myelogenous leukemia with chromosome translocation t(1;11)(q23;p15).
Nakamura T, Yamazaki Y, Hatano Y, Miura I
Blood. 1999 ; 94 (2) : 741-747.
PMID 10397741
 

Citation

This paper should be referenced as such :
Huret, JL
t(1;11)(q23;p15)
Atlas Genet Cytogenet Oncol Haematol. 2006;10(2):114-114.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0111q23p15ID1169.html


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

Genes NUP98

Translocations implicated (Data extracted from papers in the Atlas)

 t(1;11)(q23;p15) NUP98/PRRX1

External links

NUP98 (11p15.4) PRRX1 (1q24.2)

NUP98 (11p15.4) PRRX1 (1q24.2)

Mitelman databaset(1;11)(q23;p15) [Case List]    t(1;11)(q23;p15) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9920/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseNUP98/PRRX1 [MCList]  NUP98 (11p15.4) PRRX1 (1q24.2)
TICdbNUP98/PRRX1  NUP98 (11p15.4) PRRX1 (1q24.2)
 
Disease databaset(1;11)(q23;p15) NUP98/PRRX1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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