A NUP98-positive acute myeloid leukemia with a t(11;12)(p15;q13) without HOXC cluster gene involvement.
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.
La Starza
Roberta
R
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.
Brandimarte
Lucia
L
Pierini
Valentina
V
Nofrini
Valeria
V
Gorello
Paolo
P
Crescenzi
Barbara
B
Berchicci
Laura
L
Matteucci
Caterina
C
Romoli
Silvia
S
Beacci
Donatella
D
Rosati
Roberto
R
Martelli
Massimo F
MF
Mecucci
Cristina
C
D000328:Adult; D002880:Chromosomes, Human, Pair 11; D002881:Chromosomes, Human, Pair 12; D005260:Female; D005801:Genes, Homeobox; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D005810:Multigene Family; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D014178:Translocation, Genetic
D028861:Nuclear Pore Complex Proteins; C465451:Nup98 protein, human