Author/Authors :
La Starza، نويسنده , , Roberta and Brandimarte، نويسنده , , Lucia and Pierini، نويسنده , , Valentina and Nofrini، نويسنده , , Valeria and Gorello، نويسنده , , Paolo and Crescenzi، نويسنده , , Barbara and Berchicci، نويسنده , , Laura and Matteucci، نويسنده , , Caterina and Romoli، نويسنده , , Silvia and Beacci، نويسنده , , Donatella and Rosati، نويسنده , , Roberto and Martelli، نويسنده , , Massimo، نويسنده ,
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 γ), 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.
