Title of article :
A complex karyotype, including a three-way translocation generating a NUP98-HOXD13 transcript, in an infant with acute myeloid leukemia
Author/Authors :
Hidaka، نويسنده , , Eiko and Tanaka، نويسنده , , Miyuki and Matsuda، نويسنده , , Kazuyuki and Ishikawa-Matsumura، نويسنده , , Masayo and Yamauchi، نويسنده , , Kazuyoshi and Sano، نويسنده , , Kenji and Honda، نويسنده , , Takayuki and Wakui، نويسنده , , Keiko and Yanagisawa، نويسنده , , Ryu and Nakazawa، نويسنده , , Yozo and Sakashita، نويسنده , , Kazuo and Shiohara، نويسنده , , Masaaki and Ishii، نويسنده ,
Abstract :
We report the case of an infant with acute myeloblastic leukemia who had the abnormal karyotype 46,XX,t(2;11;9)(q31;p15;q22),t(6;11;15)(q21;q23;q22),t(8;10)(q13;q22). At relapse, a different three-way translocation emerged. Fluorescence in situ hybridization and a reverse transcription-polymerase chain reaction assay detected the NUP98-HOXD13 fusion gene in bone marrow cells of the patient at diagnosis and at relapse. Sequence analysis showed that exon 12 of NUP98 was fused in-frame with exon 2 of HOXD13. The patient had neither a rearrangement of the MLL gene nor aberrations for FLT3, KIT, NRAS, KRAS, or PTPN11. The NUP98-HOXD13 fusion transcript created by t(2;11;9)(q31;p15;q22) may play an important role in the leukemogenesis in this case.
