t(3;11)(q12;p15) NUP98/LNP1

2013-10-01   Jean-Loup Huret 

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

Clinics and Pathology


Myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), and T-cell acute lymphoblastic leukemia (T-ALL)

Phenotype stem cell origin

Six cases are available: one case of MDS, two cases of AML not otherwise specified, one M2-AML, and two T-ALL cases, one being a case of early T-cell precursor leukaemia (Romana et al., 2006; Chen et al., 2007; Gorello et al., 2008; Coustan-Smith et al., 2009; Lugthart et al., 2010).


There was 4 male and 2 female patients. Ages were: 3, 28, and 30 years in myeloid cases, and 16 and 36 years in T-ALLs.


Data on prognosis is very scarce: two AML cases died 11 and 23 months after diagnosis, and the early T-cell precursor leukaemia phenotype, in this study of 17 cases with various karyotypes, was said to bear a poor prognosis, but no individual data is available (Coustan-Smith et al., 2009).

Genes Involved and Proteins

NUP98 was found fused to LNP1 in cases with molecular studies (Romana et al., 2006; Gorello et al., 2008).
Gene name
LNP1 (leukemia NUP98 fusion partner 1)
Also named NP3 or LOC348801.
Dna rna description
Four exons, the first exon is non-coding.
Protein description
Protein of unknown function. 178 amino acids, 21 kDa.
Gene name
NUP98 (nucleoporin 98 kDa)
Protein description
Component of nuclear pore complex. NUP98 is found in the nucleoplasmic and cytoplasmic sides of the nuclear pore complex, and functions as nuclear import and nuclear export mRNA factor. NUP98 has a role in the regulation of gene expression via EP300. NUP98 appears to be involved in mitotic spindle formation and cell cycle progression (review in Iwamoto et al., 2010).

Result of the Chromosomal Anomaly


Nucleotide 1718 (exon 13) of NUP98 was fused in-frame with nucleotide 1248 (exon 2) of LNP1. The reciprocal LNP1-NUP98 fusion transcript was also present (Gorello et al., 2008).The protein fuses the NUP98 FG repeat motifs and GLEBS-like motif to the entire LNP1, at the start of LNP1 exon 2 (Gorello et al., 2008).


Pubmed IDLast YearTitleAuthors
174522562007Complex karyotypes confer a poor survival in adult acute myeloid leukemia with unfavorable cytogenetic abnormalities.Chen CC et al
191474082009Early T-cell precursor leukaemia: a subtype of very high-risk acute lymphoblastic leukaemia.Coustan-Smith E et al
186035502008t(3;11)(q12;p15)/NUP98-LOC348801 fusion transcript in acute myeloid leukemia.Gorello P et al
205457672010Nucleoporin Nup98: a gatekeeper in the eukaryotic kingdoms.Iwamoto M et al
206608332010Clinical, molecular, and prognostic significance of WHO type inv(3)(q21q26.2)/t(3;3)(q21;q26.2) and various other 3q abnormalities in acute myeloid leukemia.Lugthart S et al
164678682006NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogénétique Hématologique.Romana SP et al


Fusion gene

NUP98/LNP1 NUP98 (11p15.4) LNP1 (3q12.2) M t(3;11)(q12;p15)|NUP98/LNP1 NUP98 (11p15.4) LNP1 (3q12.2) TIC


Jean-Loup Huret

t(3;11)(q12;p15) NUP98/LNP1

Atlas Genet Cytogenet Oncol Haematol. 2013-10-01

Online version: http://atlasgeneticsoncology.org/haematological/1518/t(3;11)(q12;p15)

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