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t(3;11)(q29;p15) NUP98/IQCG

Written2009-02Li-Ting Chen, Sai-Juan Chen
Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China

(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 1508
 
  Complex translocation t(3;11)(q29q13;p15)del(3)(q29). A: Red arrow indicates der(3); green arrow indicates der(11). The chromosomes displaying only red color or green color (yellow arrows) are normal chromosomes 11 and 3, respectively. Insert: Representative partial karyotype showing t(3;11).

Clinics and Pathology

Disease Bi-phenotypic acute T-lymphoid/myeloid leukemia
Phenotype / cell stem origin Only one case available; BM showed 82.5% blast cells mostly with myeloid features. Immunophenotype: CD34+ cells count 35.6%, CD13+ 25.9%, CD33+ 85.4%, MPO+ 20.6% and CD3+ 65.9%, CD7+ 96.5%.
Clinics Only one case available; the patient was a 42-year-old female at diagnosis. After the chemotherapy with vincristine, cytarabine and mitoxantrone, she achieved complete remission (CR), but relapsed after 4 months, and died from intracranial hemorrhage at the 22nd months.
Prognosis The prognostic implication of t(3;11)(q29q13;p15)del(3)(q29) remains to be defined.

Cytogenetics

 
  B: Schematic diagram of t(3;11)(q29q13;p15)del(3)(q29).
Additional anomalies +21

Genes involved and Proteins

Gene Name NUP98
Location 11p15.5
Protein Nucleoporin 98, a 98 kDa component of the nuclear pore complex, which mediates nucleo-cytoplasmic transport of protein and RNA.
Gene Name IQCG
Location 3q29
Protein 443 amino acids.

Result of the chromosomal anomaly

Hybrid gene
Description 5' NUP98 - 3' IQCG; Molecular analysis showed that exon 13 of NUP98 is fused in-frame to exon 10 of IQCG.
  
Fusion Protein
Description It fuses the GLFG repeat domains of NUP98 to one coiled-coil domain and IQ motif of IQCG.
Expression Localisation Nuclear localization.
  

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 new fusion gene NUP98-IQCG identified in an acute T-lymphoid/myeloid leukemia with a t(3;11)(q29q13;p15)del(3)(q29) translocation.
Pan Q, Zhu YJ, Gu BW, Cai X, Bai XT, Yun HY, Zhu J, Chen B, Weng L, Chen Z, Xue YQ, Chen SJ.
Oncogene. 2008 May 29;27(24):3414-23.
PMID 18084320
 

Citation

This paper should be referenced as such :
Chen, L-T ; Chen, S-J
t(3;11)(q29;p15)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(1):70-71.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0311q29p15ID1508.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(3;11)(q29;p15) NUP98/IQCG

External links

NUP98 (11p15.4) IQCG (3q29)

NUP98 (11p15.4) IQCG (3q29)

Mitelman databaset(3;11)(q29;p15) [Case List]    t(3;11)(q29;p15) [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/IQCG [MCList]  NUP98 (11p15.4) IQCG (3q29)
TICdbNUP98/IQCG  NUP98 (11p15.4) IQCG (3q29)
 
Disease databaset(3;11)(q29;p15) NUP98/IQCG
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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