inv(11)(p15q22) NUP98/DDX10
t(11;11)(p15;q22) NUP98/DDX10
2007-10-01 Claudio Panarello , Cristina Morerio
Affiliation
1.Citogenetica Ematoncologica, Dipartimento di Ematologia ed Oncologia Pediatrica, Istituto Giannina Gaslini, Largo G.Gaslini 5, 16147 Genova Quarto, Italy
Clinics and Pathology
Disease
de novo Myelodysplastic syndromes (MDS) and Acute Non Lymphoblastic Leukemias (AML), therapy related MDS and AML, one case of Chronic Myelogenous Leukemia (CML).
Epidemiology
Thirteen cases reported to date: six adults and seven children (9M/4F)
Cytogenetics
A: inv(11)(p15q22) Q-banding: the derivative chromosomes are on the right of each pair.
B: FISH with NUP98 PAC 1173K1 probe. A split signal indicates pericentric inversion in the der(11). C: Cohybridization of DDX10 centromeric BAC RP11-976P22 (red) and subtelomeric 11p RP11-534I22 probe (green).
Additional anomalies
Sole anomaly in 8 out of 13 cases
Genes Involved and Proteins
Gene name
NUP98 (nucleoporin 98 kDa)
Location
11p15.4
Protein description
Nucleoporin 98, a 98 kDa component of the nuclear pore complex involved in nucleo-cytoplasmic transport.
Gene name
DDX10 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10
Location
11q22.3
Dna rna description
Alternative splicing; 3.2 and 5.0 kb mRNA.
Protein description
Putative DEAD-box RNA helicase involved in ribosome biogenesis.
Result of the Chromosomal Anomaly
Description
5 NUP98 - 3 DDX10
Twelve out of 13 cases present exon 14 of NUP98 fused in-frame to exon 7 of DDX10, one case with exon 12 of NUP98 fused in-frame to exon 6 of DDX10.It fuses the GLFG repeat domains of NUP98 to the acidic domain of DDX10.
Twelve out of 13 cases present exon 14 of NUP98 fused in-frame to exon 7 of DDX10, one case with exon 12 of NUP98 fused in-frame to exon 6 of DDX10.It fuses the GLFG repeat domains of NUP98 to the acidic domain of DDX10.
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 39604362 | 2024 | DEAD-box RNA helicase 10 is required for 18S rRNA maturation by controlling the release of U3 snoRNA from pre-rRNA in embryonic stem cells. | 90 |
| 20339440 | 2010 | Effects of the NUP98-DDX10 oncogene on primary human CD34+ cells: role of a conserved helicase motif. | 83 |
| 20233715 | 2010 | Inhibition of CRM1-mediated nuclear export of transcription factors by leukemogenic NUP98 fusion proteins. | 51 |
| 32344427 | 2020 | CDK6 is an essential direct target of NUP98 fusion proteins in acute myeloid leukemia. | 47 |
| 39344146 | 2025 | Rare Non-Cryptic NUP98 Rearrangements Associated With Myeloid Neoplasms and Their Poor Prognostic Impact. | 25 |
| 25368827 | 2014 | The first Korean case of childhood acute myeloid leukemia with inv(11)(p15q22)/NUP98-DDX10 rearrangement: a rare but recurrent genetic abnormality. | 10 |
| 36351646 | 2022 | [Acute myeloid leukemia harboring NUP98::DDX10]. | 0 |
| 17116492 | 2006 | Inversion (11)(p15q22) with NUP98-DDX10 fusion gene in pediatric acute myeloid leukemia. | 0 |
| 23522748 | 2013 | Inv(11)(p15q22)/NUP98-DDX10 fusion and isoforms in a new case of de novo acute myeloid leukemia. | 0 |
| 10222653 | 1999 | The inv(11)(p15q22) chromosome translocation of therapy-related myelodysplasia with NUP98-DDX10 and DDX10-NUP98 fusion transcripts. | 0 |
| 9166830 | 1997 | The inv(11)(p15q22) chromosome translocation of de novo and therapy-related myeloid malignancies results in fusion of the nucleoporin gene, NUP98, with the putative RNA helicase gene, DDX10. | 0 |
| 10830185 | 2000 | Fusion of the nucleoporin gene, NUP98, and the putative RNA helicase gene, DDX10, by inversion 11 (p15q22) chromosome translocation in a patient with etoposide-related myelodysplastic syndrome. | 0 |
| 15721630 | 2005 | Clonal evolution with inv(11)(p15q22) and NUP98/DDX10 fusion gene in imatinib-resistant chronic myelogenous leukemia. | 0 |
| 15951287 | 2005 | Screening for NUP98 rearrangements in hematopoietic malignancies by fluorescence in situ hybridization. | 0 |
| 9766650 | 1998 | NUP98-HOXD13 gene fusion in therapy-related acute myelogenous leukemia. | 0 |
| 32831008 | 2020 | A new case of myelodysplastic syndrome associated with t(3;3)(q21;q26) and inv(11)(p15q22). | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9166830 | 1997 | The inv(11)(p15q22) chromosome translocation of de novo and therapy-related myeloid malignancies results in fusion of the nucleoporin gene, NUP98, with the putative RNA helicase gene, DDX10. | Arai Y et al |
| 10222653 | 1999 | The inv(11)(p15q22) chromosome translocation of therapy-related myelodysplasia with NUP98-DDX10 and DDX10-NUP98 fusion transcripts. | Ikeda T et al |
| 17116492 | 2006 | Inversion (11)(p15q22) with NUP98-DDX10 fusion gene in pediatric acute myeloid leukemia. | Morerio C et al |
| 15951287 | 2005 | Screening for NUP98 rearrangements in hematopoietic malignancies by fluorescence in situ hybridization. | Nebral K et al |
| 16467868 | 2006 | NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogénétique Hématologique. | Romana SP et al |
| 15721630 | 2005 | Clonal evolution with inv(11)(p15q22) and NUP98/DDX10 fusion gene in imatinib-resistant chronic myelogenous leukemia. | Yamamoto M et al |
Summary
Fusion gene
NUP98/DDX10 NUP98 (11p15.4) DDX10 (11q22.3) M inv(11)(p15q22)|NUP98/DDX10 NUP98 (11p15.4) DDX10 (11q22.3) TIC
Note
Only one case of t(11;11) with NUP98-DDX10 fusion has been described; most cases are cases of inv(11)
Citation
Claudio Panarello ; Cristina Morerio
inv(11)(p15q22) NUP98/DDX10
t(11;11)(p15;q22) NUP98/DDX10
Atlas Genet Cytogenet Oncol Haematol. 2007-10-01
Online version: http://atlasgeneticsoncology.org/haematological/1116/inv(11)(p15q22)-nup98-ddx10-br-t(11
