PMID- 19665072 OWN - NLM STAT- MEDLINE DCOM- 20090901 LR - 20090811 IS - 1873-4456 (Electronic) IS - 0165-4608 (Linking) VI - 193 IP - 2 DP - 2009 Sep TI - A NUP98-positive acute myeloid leukemia with a t(11;12)(p15;q13) without HOXC cluster gene involvement. PG - 109-11 LID - 10.1016/j.cancergencyto.2009.04.015 [doi] AB - 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. FAU - La Starza, Roberta AU - La Starza R AD - 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. FAU - Brandimarte, Lucia AU - Brandimarte L FAU - Pierini, Valentina AU - Pierini V FAU - Nofrini, Valeria AU - Nofrini V FAU - Gorello, Paolo AU - Gorello P FAU - Crescenzi, Barbara AU - Crescenzi B FAU - Berchicci, Laura AU - Berchicci L FAU - Matteucci, Caterina AU - Matteucci C FAU - Romoli, Silvia AU - Romoli S FAU - Beacci, Donatella AU - Beacci D FAU - Rosati, Roberto AU - Rosati R FAU - Martelli, Massimo F AU - Martelli MF FAU - Mecucci, Cristina AU - Mecucci C LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - 0 (Nuclear Pore Complex Proteins) RN - 0 (Nup98 protein, human) SB - IM MH - Adult MH - *Chromosomes, Human, Pair 11 MH - *Chromosomes, Human, Pair 12 MH - Female MH - *Genes, Homeobox MH - Humans MH - In Situ Hybridization, Fluorescence MH - Leukemia, Myeloid, Acute/*genetics MH - Multigene Family MH - Nuclear Pore Complex Proteins/*genetics MH - *Translocation, Genetic EDAT- 2009/08/12 09:00 MHDA- 2009/09/02 06:00 CRDT- 2009/08/12 09:00 PHST- 2009/02/26 00:00 [received] PHST- 2009/04/03 00:00 [accepted] PHST- 2009/08/12 09:00 [entrez] PHST- 2009/08/12 09:00 [pubmed] PHST- 2009/09/02 06:00 [medline] AID - S0165-4608(09)00235-0 [pii] AID - 10.1016/j.cancergencyto.2009.04.015 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2009 Sep;193(2):109-11. doi: 10.1016/j.cancergencyto.2009.04.015.