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

2007-10-01   Claudio Panarello , Cristina Morerio 

1.Citogenetica Ematoncologica, Dipartimento di Ematologia ed Oncologia Pediatrica, Istituto Giannina Gaslini, Largo G.Gaslini 5, 16147 Genova Quarto, Italy

Clinics and Pathology


de novo Myelodysplastic syndromes (MDS) and Acute Non Lymphoblastic Leukemias (AML), therapy related MDS and AML, one case of Chronic Myelogenous Leukemia (CML).


Thirteen cases reported to date: six adults and seven children (9M/4F)


Atlas Image
A: inv(11)(p15q22) Q-banding: the derivative chromosomes are on the right of each pair.
Atlas Image
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)
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
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


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.


Pubmed IDLast YearTitleAuthors
91668301997The 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
102226531999The inv(11)(p15q22) chromosome translocation of therapy-related myelodysplasia with NUP98-DDX10 and DDX10-NUP98 fusion transcripts.Ikeda T et al
171164922006Inversion (11)(p15q22) with NUP98-DDX10 fusion gene in pediatric acute myeloid leukemia.Morerio C et al
159512872005Screening for NUP98 rearrangements in hematopoietic malignancies by fluorescence in situ hybridization.Nebral K et al
164678682006NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogénétique Hématologique.Romana SP et al
157216302005Clonal evolution with inv(11)(p15q22) and NUP98/DDX10 fusion gene in imatinib-resistant chronic myelogenous leukemia.Yamamoto M et al


Fusion gene

NUP98/DDX10 NUP98 (11p15.4) DDX10 (11q22.3) M inv(11)(p15q22)|NUP98/DDX10 NUP98 (11p15.4) DDX10 (11q22.3) TIC


Only one case of t(11;11) with NUP98-DDX10 fusion has been described; most cases are cases of inv(11)


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:;11)(p15;q22)-nup98-ddx10

External Links