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

K Nakao; M Nishino; K Takeuchi; M Iwata; A Kawano; Y Arai; M Ohki

doi:10.2169/internalmedicine.39.412

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

Intern Med. 2000 May;39(5):412-5. doi: 10.2169/internalmedicine.39.412.

Authors

K Nakao¹, M Nishino, K Takeuchi, M Iwata, A Kawano, Y Arai, M Ohki

Affiliation

¹ Department of Internal Medicine, Okawa General Hospital, Kagawa.

PMID: 10830185
DOI: 10.2169/internalmedicine.39.412

Abstract

We report a 50-year-old man who developed therapy-related myelodysplastic syndrome after treatment with etoposide-including chemotherapy for extratesticular germ cell tumor. Chromosomal analysis showed inversion 11 (p15q22) translocation. Reverse transcriptase-polymerase chain reaction amplification of patient RNA showed a fusion transcript of nucleoporin gene NUP98, and putative DEAD-box RNA helicase gene DDX10. NUP98 is implicated in the transformation through aberrant nucleocytoplasmic transport. DDX10 is suggested to be involved in ribosome assembly. The NUP98-DDX10 fusion transcript may promote the development of secondary hematological malignancies caused by DNA-topoisomerase II inhibitors through aberrant nucleocytoplasmic transport and/or alteration in ribosome assembly.

Publication types

Case Reports

MeSH terms

Antineoplastic Agents, Phytogenic / adverse effects
Artificial Gene Fusion*
Chromosome Inversion*
Chromosomes, Human, Pair 11*
Cytogenetics
Enzyme Inhibitors / adverse effects
Etoposide / adverse effects
Germinoma / drug therapy
Humans
Male
Membrane Proteins / genetics*
Middle Aged
Myelodysplastic Syndromes / etiology
Myelodysplastic Syndromes / genetics*
Nuclear Pore Complex Proteins*
Nuclear Proteins / genetics*
Nucleic Acid Synthesis Inhibitors / adverse effects
RNA Helicases / genetics*
Retroperitoneal Neoplasms / drug therapy
Topoisomerase II Inhibitors
Translocation, Genetic

Substances

Antineoplastic Agents, Phytogenic
Enzyme Inhibitors
Membrane Proteins
Nuclear Pore Complex Proteins
Nuclear Proteins
Nucleic Acid Synthesis Inhibitors
Topoisomerase II Inhibitors
nuclear pore complex protein 98
Etoposide
RNA Helicases