Fusion of the Nucleoporin Gene, NUP98, and the Putative RNA Helicase Gene, DZXX10, by Inversion 11 (p15q22) Chromosome Translocation in a Patient with Etoposide-related Myelodysplastic Syndrome

Katsuyuki NAKAO; Maki NISHINO; Kyoko TAKEUCHI; Masayasu IWATA; Akira KAWANO; Yasuhito ARAI; Misao OHKI

doi:10.2169/internalmedicine.39.412

Fusion of the Nucleoporin Gene, NUP98, and the Putative RNA Helicase Gene, DZXX10, by Inversion 11 (p15q22) Chromosome Translocation in a Patient with Etoposide-related Myelodysplastic Syndrome

Katsuyuki NAKAO, Maki NISHINO, Kyoko TAKEUCHI, Masayasu IWATA, Akira KAWANO, Yasuhito ARAI, Misao OHKI

Author information

Keywords: therapy-related myelodysplastic syndrome, secondary leukemia, fusion gene, NUP98/DDX10 fusion

JOURNAL FREE ACCESS

2000 Volume 39 Issue 5 Pages 412-415

DOI https://doi.org/10.2169/internalmedicine.39.412

J-STAGE : internalmedicine 54 5 pp.547

Details

Abstract

We report a 50-year-old man who developed therapyrelated 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.
(Internal Medicine 39: 412-415, 2000)

Corresponding author

Register with J-STAGE for free!