t(9;11)(q34;p15) NUP98/PRRX2

2005-01-01   Jean-Loup Huret  

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology

Disease

Acute myelomonocytic leukemia (M4 AML)

Etiology

This leukemia case is likely to be treatment related (a lymphoma was treated 4 years previously).

Epidemiology

Only one case to date: a 65-year-old female patient.

Prognosis

No data.

Genes Involved and Proteins

Gene name
PRRX2 (paired related homeobox 2)
Location
9q34.11
Protein description
Class II homeobox gene.
Gene name
NUP98 (nucleoporin 98 kDa)
Location
11p15.4
Protein description
Nucleoporin 98, a 98 kDa component of the nuclear pore complex implicated in nucleo-cytoplasmic transport.

Result of the Chromosomal Anomaly

Atlas Image

Description

5--> exon 11 of NUP98 is fused in frame with PRRX2 exon 2 to 3.

Highly cited references

Pubmed IDYearTitleCitations
359151432022High-resolution structural variant profiling of myelodysplastic syndromes by optical genome mapping uncovers cryptic aberrations of prognostic and therapeutic significance.0

Article Bibliography

Pubmed IDLast YearTitleAuthors
154969702005A new translocation t(9;11)(q34;p15) fuses NUP98 to a novel homeobox partner gene, PRRX2, in a therapy-related acute myeloid leukemia.Gervais C et al

Summary

Fusion gene

NUP98/PRRX2 NUP98 (11p15.4) PRRX2 (9q34.11) M t(9;11)(q34;p15)|NUP98/PRRX2 NUP98 (11p15.4) PRRX2 (9q34.11) TIC

Citation

Jean-Loup Huret

t(9;11)(q34;p15) NUP98/PRRX2

Atlas Genet Cytogenet Oncol Haematol. 2005-01-01

Online version: http://atlasgeneticsoncology.org/haematological/1380/t(9;11)(q34;p15)