| 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 |
 | |
| 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 |
| 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 Sep 18 17:19:53 CEST 2017 |
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