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t(11;17)(p15;p13) NUP98/PHF23

Written2008-10Jean-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 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 2134

Clinics and Pathology

Disease Acute myeloid leukaemia
Epidemiology Only one case to date, a 42 year old male patient (Reader et al., 2007).
Evolution The patient achieved complete remission for 11 months, but relapsed and died 3 months after.

Cytogenetics

Cytogenetics Morphological Sole anomaly; as a matter of fact, the karyotype appeared normal, with a doubt on one chromosome 17: Cryptic translocation.

Genes involved and Proteins

Gene NameNUP98 (nucleoporin 98 kDa)
Location 11p15.4
Protein Nucleoporin: associated with the nuclear pore complex. Role in nucleocytoplasmic transport processes.
Gene NamePHF23 (PHD finger protein 23)
Location 17p13.1
Protein Recently discovered gene, which possess a plant homeodomain. Possible effect on chromatin structure and transcriptional regulation.

Result of the chromosomal anomaly

Hybrid gene
Transcript NUP98 exon 13 fused in frame to PHF23 exon 4.
  
Fusion Protein
Description NH2-term NUP98 including the Phe-Gly repeats, the GLEB domain fused to the coiled-coil domain and the plant homeodomain of PHF23 C-term.
  

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

A novel NUP98-PHF23 fusion resulting from a cryptic translocation t(11;17)(p15;p13) in acute myeloid leukemia.
Reader JC, Meekins JS, Gojo I, Ning Y.
Leukemia. 2007 Apr;21(4):842-4.
PMID 17287853
 

Citation

This paper should be referenced as such :
Huret, JL
t(11;17)(p15;p13)
Atlas Genet Cytogenet Oncol Haematol. 2009;13(10):742-743.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1117p15p13ID2134.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(11;17)(p15;p13) NUP98/PHF23

External links

NUP98 (11p15.4) PHF23 (17p13.1)

Mitelman databaset(11;17)(p15;p13) [Case List]    t(11;17)(p15;p13) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseNUP98/PHF23 [MCList]  NUP98 (11p15.4) PHF23 (17p13.1)
 
Disease databaset(11;17)(p15;p13) NUP98/PHF23
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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indexed on : Mon Sep 18 17:20:06 CEST 2017


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