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Updated: Jun 21, 2026

Colony Forming Cell (CFC) Assay for Human Hematopoietic Cells
Published on: December 18, 2010
A NUP98-positive acute myeloid leukemia with a t(11;12)(p15;q13) without HOXC cluster gene involvement
Roberta La Starza1, Lucia Brandimarte, Valentina Pierini
1Hematology 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.
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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