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Vol. 129, No. 1, 2013
Issue release date: January 2013

Translocation t(11;17) in de novo Myelodysplastic Syndrome Not Associated with Acute Myeloid or Acute Promyelocytic Leukemia

Baljevic M. · Abdel-Wahab O. · Rampal R. · Maslak P.G. · Klimek V.M. · Rosenblat T.L. · Douer D. · Levine R.L. · Tallman M.S.
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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.

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