title: POU1F1 is a novel fusion partner of NUP98 in acute myeloid leukemia with t(3;11)(p11;p15).
abstract: BACKGROUND
  NUP98 gene rearrangements have been reported in acute myeloid leukemia, giving rise to fusion proteins that seem to function as aberrant transcription factors, and are thought to be associated with poor prognosis.
  
  
  RESULTS
  A patient with treatment-related acute myeloid leukemia presented a t(3;11)(p11;p15) as the only cytogenetic abnormality. FISH and molecular genetic analyses identified a class 1 homeobox gene, POU1F1, located on chromosome 3p11, as the fusion partner of NUP98. In addition, we have found that the patient harbored an FLT3-ITD mutation, which most likely collaborated with the NUP98-POU1F1 fusion gene in malignant transformation.
  
  
  CONCLUSIONS
  We have identified POU1F1 as the NUP98 fusion partner in therapy-related AML with a t(3;11)(p11;p15). This is the first POU family member identified as a fusion partner in human cancer.
authors: Department of Genetics, Portuguese Oncology Institute, Rua Dr, António Bernardino de Almeida, 4200-072, Porto, Portugal.
authors: Susana
authors: S
authors: Lisboa
authors: Nuno
authors: N
authors: Cerveira
authors: Susana
authors: S
authors: Bizarro
authors: Cecília
authors: C
authors: Correia
authors: Joana
authors: J
authors: Vieira
authors: Lurdes
authors: L
authors: Torres
authors: José M
authors: JM
authors: Mariz
authors: Manuel R
authors: MR
authors: Teixeira
mesh_terms: D000230:Adenocarcinoma / Q000628:therapy*; D001483:Base Sequence; D001943:Breast Neoplasms / Q000628:therapy*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D003131:Combined Modality Therapy; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis* / Q000235:genetics; D008875:Middle Aged; D016609:Neoplasms, Second Primary / Q000175:diagnosis / Q000235:genetics*; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D017422:Sequence Analysis, DNA; D050817:Transcription Factor Pit-1 / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D028861:Nuclear Pore Complex Proteins; C465451:Nup98 protein, human; D015514:Oncogene Proteins, Fusion; C494187:POU1F1 protein, human; D050817:Transcription Factor Pit-1