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inv(11)(p15q22) NUP98/DDX10

t(11;11)(p15;q22) NUP98/DDX10

Written2007-10Cristina Morerio, Claudio Panarello
Citogenetica Ematoncologica, Dipartimento di Ematologia ed Oncologia Pediatrica, Istituto Giannina Gaslini, Largo G.Gaslini 5, 16147 Genova Quarto, 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
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1116
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 (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)


  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 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 NameDDX10 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10
Location 11q22.3
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

Hybrid gene
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.
Fusion Protein
Description It fuses the GLFG repeat domains of NUP98 to the acidic domain of DDX10.

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.
Case Report Inversion(11)(p15q22) as a secondary anomaly in a case of relapsed MDS-RAEB after unrelated donor hematopoietic cell transplantation


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
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
Screening for NUP98 rearrangements in hematopoietic malignancies by fluorescence in situ hybridization.
Nebral K, König 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
NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogénétique Hématologique (GFCH).
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 Fran&cophone de Cytogénétique Hématologique (GFCH), Berger R.
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2006 ; 20 (4) : 696-706.
PMID 16467868
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


This paper should be referenced as such :
Morerio, C ; Panarello, C
inv(11)(p15q22) - t(11;11)(p15;q22)
Atlas Genet Cytogenet Oncol Haematol. 2008;12(6):459-460.
Free journal version : [ pdf ]   [ DOI ]
On line version :

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

Genes DDX10 NUP98

Translocations implicated (Data extracted from papers in the Atlas)

 inv(11)(p15q22) NUP98/DDX10
 t(11;11)(p15;q22) NUP98/DDX10

External links

NUP98 (11p15.4) DDX10 (11q22.3)

NUP98 (11p15.4) DDX10 (11q22.3)

Mitelman databaseinv(11)(p15q22)
Mitelman databaset(11;11)(p15;q22)
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]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseNUP98/DDX10 [MCList]  NUP98 (11p15.4) DDX10 (11q22.3)
TICdbNUP98/DDX10  NUP98 (11p15.4) DDX10 (11q22.3)
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