Document Detail

A NUP98-positive acute myeloid leukemia with a t(11;12)(p15;q13) without HOXC cluster gene involvement.
MedLine Citation:
PMID:  19665072     Owner:  NLM     Status:  MEDLINE    
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.
Roberta La Starza; Lucia Brandimarte; Valentina Pierini; Valeria Nofrini; Paolo Gorello; Barbara Crescenzi; Laura Berchicci; Caterina Matteucci; Silvia Romoli; Donatella Beacci; Roberto Rosati; Massimo F Martelli; Cristina Mecucci
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Cancer genetics and cytogenetics     Volume:  193     ISSN:  1873-4456     ISO Abbreviation:  Cancer Genet. Cytogenet.     Publication Date:  2009 Sep 
Date Detail:
Created Date:  2009-08-11     Completed Date:  2009-09-01     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7909240     Medline TA:  Cancer Genet Cytogenet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  109-11     Citation Subset:  IM    
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.
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MeSH Terms
Chromosomes, Human, Pair 11*
Chromosomes, Human, Pair 12*
Genes, Homeobox*
In Situ Hybridization, Fluorescence
Leukemia, Myeloid, Acute / genetics*
Multigene Family
Nuclear Pore Complex Proteins / genetics*
Translocation, Genetic*
Reg. No./Substance:
0/Nuclear Pore Complex Proteins; 0/Nup98 protein, human

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