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

2009-02-01   Li-Ting Chen  , Sai-Juan Chen  

1.Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China

Clinics and Pathology

Disease

Bi-phenotypic acute T-lymphoid/myeloid leukemia

Phenotype stem cell 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

Atlas Image
B: Schematic diagram of t(3;11)(q29q13;p15)del(3)(q29).

Additional anomalies

+21

Genes Involved and Proteins

Gene name
NUP98 (nucleoporin 98 kDa)
Location
11p15.4
Protein description
Nucleoporin 98, a 98 kDa component of the nuclear pore complex, which mediates nucleo-cytoplasmic transport of protein and RNA.
Gene name
IQCG (IQ motif containing G)
Location
3q29
Protein description
443 amino acids.

Result of the Chromosomal Anomaly

Description

5 NUP98 - 3 IQCG; Molecular analysis showed that exon 13 of NUP98 is fused in-frame to exon 10 of IQCG.It fuses the GLFG repeat domains of NUP98 to one coiled-coil domain and IQ motif of IQCG.

Expression localisation

Nuclear localization.

Highly cited references

Pubmed IDYearTitleCitations
180843202008A new fusion gene NUP98-IQCG identified in an acute T-lymphoid/myeloid leukemia with a t(3;11)(q29q13;p15)del(3)(q29) translocation.11
247879022014Functional and molecular features of the calmodulin-interacting protein IQCG required for haematopoiesis in zebrafish.6
278647802016Inhibition of the nuclear export of p65 and IQCG in leukemogenesis by NUP98-IQCG.3
266753332016Human NUP98-IQCG fusion protein induces acute myelomonocytic leukemia in mice by dysregulating the Hox/Pbx3 pathway.2

Article Bibliography

Pubmed IDLast YearTitleAuthors
180843202008A 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 et al

Summary

Fusion gene

NUP98/IQCG NUP98 (11p15.4) IQCG (3q29) M t(3;11)(q29;p15)|NUP98/IQCG NUP98 (11p15.4) IQCG (3q29) TIC
Atlas Image
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).

Citation

Li-Ting Chen ; Sai-Juan Chen

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

Atlas Genet Cytogenet Oncol Haematol. 2009-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1508/t(3;11)(q29;p15)-nup98-iqcg