title: Expression of the novel NUP98/PSIP1 fusion transcripts in myelodysplastic syndrome with t(9;11)(p22;p15).
abstract: OBJECTIVE
  The t(9;11)(p22;p15) is a very rare but recurrent translocation in acute myeloid leukemia (AML) and chronic myeloid leukemia (CML) blast crisis. The translocation results in a fusion gene between NUP98 at 11p15 and PSIP1 encoding two transcriptional coactivators, p52 and p75, at 9p22. Here, we describe the first case of myelodysplastic syndrome (MDS) with t(9;11)(p22;p15).
  
  
  METHODS
  A 64-yr-old woman presented pancytopenia, trilineage dysplasia, and 9.2% blasts in the bone marrow, indicating the diagnosis of MDS.
  
  
  RESULTS
  G-banding and spectral karyotyping showed 46,XX,t(9;11)(p22;p15)[20]. Reverse transcription-polymerase chain reaction (RT-PCR) and nucleotide sequencing detected four types of NUP98/PSIP1-p52 and two types of NUP98/PSIP1-p75 fusion transcripts. Essentially, the NUP98 exon 12 or exon 11 by alternative splicing was fused in-frame with the PSIP1 exon 8. Real-time quantitative (RQ) PCR for NUP98/PSIP1/GAPDH demonstrated a 4-log decrease after cord blood transplantation and a 2-log increase at relapse.
  
  
  CONCLUSIONS
  The fusion genes combining NUP98 exon 11/12 with PSIP1 exon 8, which have never been detected in other AML/CML cases, may be implicated in the pathogenesis of MDS. Furthermore, RQ-PCR for NUP98/PSIP1 could be useful to monitor minimal residual disease.
authors: Division of Medical Oncology/Hematology, Department of Medicine, Kobe University Graduate School of Medicine, Kobe, Japan. kyamamo@med.kobe-u.ac.jp
authors: Katsuya
authors: K
authors: Yamamoto
authors: Yuji
authors: Y
authors: Nakamachi
authors: Kimikazu
authors: K
authors: Yakushijin
authors: Yohei
authors: Y
authors: Funakoshi
authors: Atsuo
authors: A
authors: Okamura
authors: Seiji
authors: S
authors: Kawano
authors: Hiroshi
authors: H
authors: Matsuoka
authors: Hironobu
authors: H
authors: Minami
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D001483:Base Sequence; D002871:Chromosome Banding; D002880:Chromosomes, Human, Pair 11; D002899:Chromosomes, Human, Pair 9; D005091:Exons; D005260:Female; D023061:Gene Order; D016162:Genes, Wilms Tumor; D006801:Humans; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C571289:NUP98-PSIP1 fusion protein, human; D028861:Nuclear Pore Complex Proteins; C465451:Nup98 protein, human; D015514:Oncogene Proteins, Fusion; C504649:PSIP1 protein, human; D014157:Transcription Factors