Written | 2007-05 | Cristina Morerio, Claudio Panarello |
Dipartimento di Ematologia ed Oncologia Pediatrica, IRCCS Istituto Giannina Gaslini, Largo G. Gaslini 5, 16147 Genoa, Italy |
Identity |
ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
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 |
Cytogenetics |
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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 Name | NUP98 (nucleoporin 98 kDa) |
Location | 11p15.4 |
Protein | Nucleoporin 98, a 98 kDa component of the nuclear pore complex involved in nucleo-cytoplasmic transport. |
Gene Name | PSIP1 (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 |
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. |
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. |
Bibliography |
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 |
Citation |
This paper should be referenced as such : |
Morerio, Cristina ; Panarello, Claudio |
t(9;11)(p22;p15) |
Atlas Genet Cytogenet Oncol Haematol. 2007;11(4):322-323. |
Free journal version : [ pdf ] [ DOI ] |
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0911p22p15ID1232.html |
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 |
Mitelman database | t(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 database | NUP98/PSIP1 [MCList] NUP98 (11p15.4) PSIP1 (9p22.3) |
TICdb | NUP98/PSIP1 NUP98 (11p15.4) PSIP1 (9p22.3) |
REVIEW articles | automatic search in PubMed |
Last year articles | automatic search in PubMed |
All articles | automatic search in PubMed |
© Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Dec 14 18:26:14 CET 2020 |
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