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

Written2013-10Jean-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 9837/3 T lymphoblastic leukaemia/lymphoma
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1518

Clinics and Pathology

Disease Myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), and T-cell acute lymphoblastic leukemia (T-ALL)
Phenotype / cell stem 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).
Epidemiology 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.
Prognosis 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).

Cytogenetics

Cytogenetics Morphological The t(3;11)(q12;p15) was the sole anomaly in four of six cases. +19 was found in one T-ALL.

Genes involved and Proteins

Note NUP98 was found fused to LNP1 in cases with molecular studies (Romana et al., 2006; Gorello et al., 2008).
Gene NameLNP1 (leukemia NUP98 fusion partner 1)
Location 3q12.2
Note Also named NP3 or LOC348801.
Dna / Rna Four exons, the first exon is non-coding.
Protein Protein of unknown function. 178 amino acids, 21 kDa.
Gene NameNUP98 (nucleoporin 98 kDa)
Location 11p15.4
Protein 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

Hybrid gene
Description 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).
  
Fusion Protein
Description 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).
  

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

Complex karyotypes confer a poor survival in adult acute myeloid leukemia with unfavorable cytogenetic abnormalities.
Chen CC, Yang CF, Lee KD, You JY, Yu YB, Ho CH, Tzeng CH, Chau WK, Hsu HC, Gau JP.
Cancer Genet Cytogenet. 2007 Apr 15;174(2):138-46.
PMID 17452256
 
Early T-cell precursor leukaemia: a subtype of very high-risk acute lymphoblastic leukaemia.
Coustan-Smith E, Mullighan CG, Onciu M, Behm FG, Raimondi SC, Pei D, Cheng C, Su X, Rubnitz JE, Basso G, Biondi A, Pui CH, Downing JR, Campana D.
Lancet Oncol. 2009 Feb;10(2):147-56. doi: 10.1016/S1470-2045(08)70314-0. Epub 2009 Jan 13.
PMID 19147408
 
t(3;11)(q12;p15)/NUP98-LOC348801 fusion transcript in acute myeloid leukemia.
Gorello P, Brandimarte L, La Starza R, Pierini V, Bury L, Rosati R, Martelli MF, Vandenberghe P, Wlodarska I, Mecucci C.
Haematologica. 2008 Sep;93(9):1398-401. doi: 10.3324/haematol.12945. Epub 2008 Jul 4.
PMID 18603550
 
Nucleoporin Nup98: a gatekeeper in the eukaryotic kingdoms.
Iwamoto M, Asakawa H, Hiraoka Y, Haraguchi T.
Genes Cells. 2010 Jun;15(7):661-9. doi: 10.1111/j.1365-2443.2010.01415.x. Epub 2010 Jun 7. (REVIEW)
PMID 20545767
 
Clinical, 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, Groschel S, Beverloo HB, Kayser S, Valk PJ, van Zelderen-Bhola SL, Jan Ossenkoppele G, Vellenga E, van den Berg-de Ruiter E, Schanz U, Verhoef G, Vandenberghe P, Ferrant A, Kohne CH, Pfreundschuh M, Horst HA, Koller E, von Lilienfeld-Toal M, Bentz M, Ganser A, Schlegelberger B, Jotterand M, Krauter J, Pabst T, Theobald M, Schlenk RF, Delwel R, Dohner K, Lowenberg B, Dohner H.
J Clin Oncol. 2010 Aug 20;28(24):3890-8. doi: 10.1200/JCO.2010.29.2771. Epub 2010 Jul 26.
PMID 20660833
 
NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogenetique Hematologique.
Romana SP, Radford-Weiss I, Ben Abdelali R, Schluth C, Petit A, Dastugue N, Talmant P, Bilhou-Nabera C, Mugneret F, Lafage-Pochitaloff M, Mozziconacci MJ, Andrieu J, Lai JL, Terre C, Rack K, Cornillet-Lefebvre P, Luquet I, Nadal N, Nguyen-Khac F, Perot C, Van den Akker J, Fert-Ferrer S, Cabrol C, Charrin C, Tigaud I, Poirel H, Vekemans M, Bernard OA, Berger R; Groupe Francophone de Cytogenetique Hematologique.
Leukemia. 2006 Apr;20(4):696-706.
PMID 16467868
 

Citation

This paper should be referenced as such :
Huret, JL
t(3;11)(q12;p15) NUP98/LNP1
Atlas Genet Cytogenet Oncol Haematol. 2014;18(5):356-357.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0311q12p15ID1518.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(3;11)(q12;p15) NUP98/LNP1

External links

NUP98 (11p15.4) LNP1 (3q12.2)

NUP98 (11p15.4) LNP1 (3q12.2)

Mitelman databaset(3;11)(q12;p15) [Case List]    t(3;11)(q12;p15) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9837/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseNUP98/LNP1 [MCList]  NUP98 (11p15.4) LNP1 (3q12.2)
TICdbNUP98/LNP1  NUP98 (11p15.4) LNP1 (3q12.2)
 
Disease databaset(3;11)(q12;p15) NUP98/LNP1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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