Atlas of Genetics and Cytogenetics in Oncology and Haematology
inv(11)(p15q22)
t(11;11)(p15;q22)
| Identity |
| Note | Only one case of t(11;11) with NUP98-DDX10 fusion has been described; most cases are cases of inv(11) |
| Clinics and Pathology |
| Disease | de novo Myelodysplastic syndromes (MDS) and Acute Non Lymphoblastic Leukemias (ANLL), therapy related MDS and ANLL, 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). | |
| Probes | NUP98: PAC 1173K1; DDX10: RP11-976P22 (centromeric) and RP11-25I9 (telomeric) |
| Additional anomalies | Sole anomaly in 8 out of 13 cases |
| Genes involved and Proteins |
| Gene Name | NUP98 |
| Location | 11p15.5 |
| Protein | Nucleoporin 98, a 98 kDa component of the nuclear pore complex involved in nucleo-cytoplasmic transport. |
| Gene Name | DDX10 |
| Location | 11q22 |
| Dna / Rna | Alternative splicing; 3.2 and 5.0 kb mRNA. |
| Protein | 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. |
| Description | It fuses the GLFG repeat domains of NUP98 to the acidic domain of DDX10. |
| External links |
| Other database | inv(11)(p15q22) | Mitelman database (CGAP - NCBI) | |
| Other database | t(11;11)(p15;q22) | Mitelman database (CGAP - NCBI) | |
| Other database | t(11;11)(p15;q22) | CancerChromosomes (NCBI) |
| 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 |
| 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, Hosoda F, Kobayashi H, Arai K, Hayashi Y, Kamada N, Kaneko Y, Ohki M |
| Blood. 1997 ; 89 (11) : 3936-3944. |
| PMID 9166830 |
| The inv(11)(p15q22) chromosome translocation of therapy-related myelodysplasia with NUP98-DDX10 and DDX10-NUP98 fusion transcripts. |
| Ikeda T, Ikeda K, Sasaki K, Kawakami K, Takahara J |
| International journal of hematology. 1999 ; 69 (3) : 160-164. |
| PMID 10222653 |
| Screening for NUP98 rearrangements in hematopoietic malignancies by fluorescence in situ hybridization. |
| Nebral K, Kˆnig M, Schmidt HH, Lutz D, Sperr WR, Kalwak K, Brugger S, Dworzak MN, Haas OA, Strehl S |
| Haematologica. 2005 ; 90 (6) : 746-752. |
| PMID 15951287 |
| Clonal evolution with inv(11)(p15q22) and NUP98/DDX10 fusion gene in imatinib-resistant chronic myelogenous leukemia. |
| Yamamoto M, Kakihana K, Kurosu T, Murakami N, Miura O |
| Cancer genetics and cytogenetics. 2005 ; 157 (2) : 104-108. |
| PMID 15721630 |
| Inversion (11)(p15q22) with NUP98-DDX10 fusion gene in pediatric acute myeloid leukemia. |
| Morerio C, Acquila M, Rapella A, Tassano E, Rosanda C, Panarello C |
| Cancer genetics and cytogenetics. 2006 ; 171 (2) : 122-125. |
| PMID 17116492 |
| NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogˆ©nˆ©tique Hˆ©matologique. |
| 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, Groupe Francophone de Cytogˆ©nˆ©tique Hˆ©matologique, Berger R |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2006 ; 20 (4) : 696-706. |
| PMID 16467868 |
| Contributor(s) |
| Written | 10-2007 | Cristina Morerio, Claudio Panarello |
| Citogenetica Ematoncologica, Dipartimento di Ematologia ed Oncologia Pediatrica, Istituto Giannina Gaslini, Largo G.Gaslini 5, 16147 Genova Quarto, Italy |
| Citation |
| This paper should be referenced as such : |
| Morerio C, Panarello C . inv(11)(p15q22); t(11;11)(p15;q22). Atlas Genet Cytogenet Oncol Haematol. October 2007 . URL : http://AtlasGeneticsOncology.org/Genes/inv11p15q22ID1116.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Dec 6 18:01:55 2008 |
For comments and suggestions or contributions, please contact us