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

作者：La Starza Roberta; Brandimarte Lucia; Pierini Valentina; Nofrini Valeria; Gorello Paolo; Crescenzi Barbara; Berchicci Laura; Matteucci Caterina; Romoli Silvia; Beacci Donatella; Rosati Roberto; Martelli Massimo F; Mecucci Cristina^*

来源：Cancer Genetics and Cytogenetics, 2009, 193(2): 109-111.

DOI：10.1016/j.cancergencyto.2009.04.015

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.

• 出版日期2009-9