title: Translocation t(11;17) in de novo myelodysplastic syndrome not associated with acute myeloid or acute promyelocytic leukemia.
abstract: Translocation t(11;17) is a well-recognized variant of acute promyelocytic leukemia (APL) and has also been identified in patients with mixed-lineage leukemia (MLL) non-APL acute myeloid leukemia. Here, we describe two patients bearing translocation t(11;17) presenting with a clinical diagnosis of de novo myelodysplastic syndrome (MDS): the first with sole karyotypic abnormality 46,XY,t(11;17)(p11.2; p13) and the second where it represented one of the two karyotypic abnormalities 46,XX,del(5)(q13q33)46,XX,del(5)(q13q33),t(11;17)(q24;q23). Molecular characterization of both cases failed to identify fusion transcripts involving MLL or PLZF-RARA and no collaborating somatic mutations commonly found among MDS patients were seen in either case, suggesting the presence of an as yet unidentified oncogenic fusion protein.
authors.affiliation: Department of Medicine, New York-Presbyterian Hospital/Weill Cornell Medical Center, New York, NY 10065, USA. mub2007@nyp.org
authors.forename: Muhamed
authors.initials: M
authors.lastname: Baljevic
authors.forename: Omar
authors.initials: O
authors.lastname: Abdel-Wahab
authors.forename: Raajit
authors.initials: R
authors.lastname: Rampal
authors.forename: Peter G
authors.initials: PG
authors.lastname: Maslak
authors.forename: Virginia M
authors.initials: VM
authors.lastname: Klimek
authors.forename: Todd L
authors.initials: TL
authors.lastname: Rosenblat
authors.forename: Dan
authors.initials: D
authors.lastname: Douer
authors.forename: Ross L
authors.initials: RL
authors.lastname: Levine
authors.forename: Martin S
authors.initials: MS
authors.lastname: Tallman
mesh_terms: D000328:Adult; D001853:Bone Marrow / Q000473:pathology; D002880:Chromosomes, Human, Pair 11; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000473:pathology; D015473:Leukemia, Promyelocytic, Acute / Q000473:pathology; D008297:Male; D008677:Metaphase; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics*; D010198:Pancytopenia / Q000209:etiology; D014178:Translocation, Genetic