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t(9;11)(p22;p15) NUP98/PSIP1

Written2007-05Cristina Morerio, Claudio Panarello
Dipartimento di Ematologia ed Oncologia Pediatrica, IRCCS Istituto Giannina Gaslini, Largo G. Gaslini 5, 16147 Genoa, Italy

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ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1232
Note rare abnormality

Clinics and Pathology

Disease Acute non lymphoblastic leukemia (AML), one case of transformed chronic myeloid leukemia (CML-BC).
Phenotype / cell stem origin AML FAB TYPE M1, M2, M2/M3
Epidemiology Five cases reported to date: four adults and one 5-year-old girl.
Prognosis Unfavorable outcome


  A) Partial Q-banded karyotype showing the t(9;11)(p22;p15); derivative chromosomes are on the right of each pair. B) FISH analysis using PAC 1173K1 (NUP98) and RP11-356J15 (PSIP1) probes (green and red signals, respectively). Arrow and arrowhead indicate the fusion signals on the der(9) and the der(11), respectively.
Additional anomalies Sole anomaly in the four AML cases, t(9;11) in addition to the t(9;22) in the CML-BC case.

Genes involved and Proteins

Gene NameNUP98 (nucleoporin 98 kDa)
Location 11p15.4
Protein Nucleoporin 98, a 98 kDa component of the nuclear pore complex involved in nucleo-cytoplasmic transport.
Gene NamePSIP1 (PC4 and SFRS1 interacting protein 1)
Location 9p22.3
Note The gene contains at least 15 exons and 14 introns
Dna / Rna Two alternative splice variants: p75 and p52
Protein Chromatin-associated protein involved in trascriptional regulation, mRNA splicing and cell survival in vitro. Contains a PWWP domain and AT hook-like motifs.

Result of the chromosomal anomaly

Hybrid gene
Description 5'NUP98 - 3'PSIP1; The breakpoint in the NUP98 gene is the same in three out of four cases studied (nucleotide 1230), while the breakpoints in PSIP1 are variable.
Fusion Protein
Description It fuses the GLFG repeat domains of NUP98 to the COOH-terminal of the PSIP1

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.


t(9;11)(p22;p15) in acute myeloid leukemia results in a fusion between NUP98 and the gene encoding transcriptional coactivators p52 and p75-lens epithelium-derived growth factor (LEDGF).
Ahuja HG, Hong J, Aplan PD, Tcheurekdjian L, Forman SJ, Slovak ML
Cancer research. 2000 ; 60 (22) : 6227-6229.
PMID 11103774
NUP98-LEDGF fusion and t(9;11) in transformed chronic myeloid leukemia.
Grand FH, Koduru P, Cross NC, Allen SL
Leukemia research. 2005 ; 29 (12) : 1469-1472.
PMID 15982735
Biphenotypic leukemia with t(9;11)(p22;p15).
Ha SY, Chan LC
Cancer genetics and cytogenetics. 1994 ; 76 (2) : 116-117.
PMID 7923059
Fusion of the NUP98 gene with the LEDGF/p52 gene defines a recurrent acute myeloid leukemia translocation.
Hussey DJ, Moore S, Nicola M, Dobrovic A
BMC genetics. 2001 ; 2 : page 20.
PMID 11737860
t(9;11)(p22;p15) with NUP98-LEDGF fusion gene in pediatric acute myeloid leukemia.
Morerio C, Acquila M, Rosanda C, Rapella A, Tassano E, Micalizzi C, Panarello C
Leukemia research. 2005 ; 29 (4) : 467-470.
PMID 15725483
Lens epithelium-derived growth factor (LEDGF/p75) and p52 are derived from a single gene by alternative splicing.
Singh DP, Kimura A, Chylack LT Jr, Shinohara T
Gene. 2000 ; 242 (1-2) : 265-273.
PMID 10721720
Disruption of Ledgf/Psip1 results in perinatal mortality and homeotic skeletal transformations.
Sutherland HG, Newton K, Brownstein DG, Holmes MC, Kress C, Semple CA, Bickmore WA
Molecular and cellular biology. 2006 ; 26 (19) : 7201-7210.
PMID 16980622


This paper should be referenced as such :
Morerio, Cristina ; Panarello, Claudio
Atlas Genet Cytogenet Oncol Haematol. 2007;11(4):322-323.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]

Genes NUP98 PSIP1

Translocations implicated (Data extracted from papers in the Atlas)

 t(9;11)(p22;p15) NUP98/PSIP1

External links

NUP98 (11p15.4) PSIP1 (9p22.3)

NUP98 (11p15.4) PSIP1 (9p22.3)

Mitelman databaset(9;11)(p22;p15)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseNUP98/PSIP1 [MCList]  NUP98 (11p15.4) PSIP1 (9p22.3)
TICdbNUP98/PSIP1  NUP98 (11p15.4) PSIP1 (9p22.3)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
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