A NUP98-positive acute myeloid leukemia with a t(11;12)(p15;q13) without HOXC cluster gene involvement.

Cancer Genet Cytogenet

Hematology and Bone Marrow Transplantation Unit, University of Perugia, Ematologia e Trapianto di Midollo Osseo, Ospedale S.M. della Misericordia, (Padiglione B, piano -2), S. Andrea delle Fratte, 06156 Perugia, Italy.

Published: September 2009

AI Article Synopsis

  • A case of adult acute myeloid leukemia was identified with a new genetic abnormality involving a translocation between chromosome 11 and 12, which affects the NUP98 gene without involving the HOXC gene cluster.
  • Researchers developed a specialized double-color double-fusion FISH assay to distinguish this specific translocation from others that also affect NUP98 but involve HOXC11 or HOXC13.
  • The study found potential partner genes (RARG, MFSD5, and ESPL1) associated with this translocation, with ESPL1 being the only one previously linked to human cancers, highlighting the assay's potential for diagnosing NUP98-positive leukemias.

Article Abstract

We report a case of adult acute myeloid leukemia with a new t(11;12)(p15;q13) underlying a NUP98 rearrangement without HOXC cluster gene involvement. We designed a specific double-color double-fusion FISH assay to discriminate between this t(11;12)(p15;q13) and those producing NUP98-HOXC11 or NUP98-HOXC13. Our fluorescence in situ hybridization (FISH) showed that putative candidate partners mapping 600 kilobases centromeric to HOXC were RARG (retinoic acid receptor gamma), MFSD5 (major facilitator superfamily domain containing 5), and ESPL1 (extra spindle pole bodies homolog 1). It is noteworthy that so far only ESPL1 has been implicated in human cancers. This FISH assay is useful for diagnostic screening of NUP98-positive leukemias.

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http://dx.doi.org/10.1016/j.cancergencyto.2009.04.015DOI Listing

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