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.
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.
Nakao
K
K
Department of Internal Medicine, Okawa General Hospital, Kagawa.
Nishino
M
M
Takeuchi
K
K
Iwata
M
M
Kawano
A
A
Arai
Y
Y
Ohki
M
M
D000972:Antineoplastic Agents, Phytogenic / Q000009:adverse effects; D019677:Artificial Gene Fusion; D007446:Chromosome Inversion; D002880:Chromosomes, Human, Pair 11; D003582:Cytogenetics; D004791:Enzyme Inhibitors / Q000009:adverse effects; D005047:Etoposide / Q000009:adverse effects; D018237:Germinoma / Q000188:drug therapy; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000209:etiology / Q000235:genetics*; D028861:Nuclear Pore Complex Proteins; D009687:Nuclear Proteins / Q000235:genetics*; D019384:Nucleic Acid Synthesis Inhibitors / Q000009:adverse effects; D020365:RNA Helicases / Q000235:genetics*; D012186:Retroperitoneal Neoplasms / Q000188:drug therapy; D059005:Topoisomerase II Inhibitors; D014178:Translocation, Genetic
D000972:Antineoplastic Agents, Phytogenic; D004791:Enzyme Inhibitors; D008565:Membrane Proteins; D028861:Nuclear Pore Complex Proteins; D009687:Nuclear Proteins; D019384:Nucleic Acid Synthesis Inhibitors; D059005:Topoisomerase II Inhibitors; C093350:nuclear pore complex protein 98; D005047:Etoposide; D020365:RNA Helicases