title: NUP98/11p15 translocations affect CD34+ cells in myeloid and T lymphoid leukemias.
abstract: We assessed lineage involvement by NUP98 translocations in myelodysplastic syndromes (MDS), acute myeloid leukaemia (AML), and T-cell acute lymphoblastic leukaemia (T-ALL). Single cell analysis by FICTION (Fluorescence Immunophenotype and Interphase Cytogenetics as a Tool for Investigation of Neoplasms) showed that, despite diverse partners, i.e. NSD1, DDX10, RAP1GDS1, and LNP1, NUP98 translocations always affected a CD34+/CD133+ hematopoietic precursor. Interestingly the abnormal clone included myelomonocytes, erythroid cells, B- and T- lymphocytes in MDS/AML and only CD7+/CD3+ cells in T-ALL. The NUP98-RAP1GDS1 affected different hematopoietic lineages in AML and T-ALL. Additional specific genomic events, were identified, namely FLT3 and CEBPA mutations in MDS/AML, and NOTCH1 mutations and MYB duplication in T-ALL.
authors.affiliation: Laboratory of Molecular Medicine, CREO, University of Perugia and A.O. Perugia, 06132 Perugia, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Crescenzi
authors.affiliation: Laboratory of Molecular Medicine, CREO, University of Perugia and A.O. Perugia, 06132 Perugia, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Nofrini
authors.affiliation: Laboratory of Molecular Medicine, CREO, University of Perugia and A.O. Perugia, 06132 Perugia, Italy.
authors.forename: Gianluca
authors.initials: G
authors.lastname: Barba
authors.affiliation: Laboratory of Molecular Medicine, CREO, University of Perugia and A.O. Perugia, 06132 Perugia, Italy.
authors.forename: Caterina
authors.initials: C
authors.lastname: Matteucci
authors.affiliation: Laboratory of Molecular Medicine, CREO, University of Perugia and A.O. Perugia, 06132 Perugia, Italy.
authors.forename: Danika
authors.initials: D
authors.lastname: Di Giacomo
authors.affiliation: Laboratory of Molecular Medicine, CREO, University of Perugia and A.O. Perugia, 06132 Perugia, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Gorello
authors.affiliation: Department of Clinical Genetics, Erasmus MC, 3000 CB Rotterdam, The Netherlands.
authors.forename: Berna
authors.initials: B
authors.lastname: Beverloo
authors.affiliation: Hematology, Department of Cellular Biotechnologies and Hematology, La Sapienza University, Via Benevento 6, 06161 Rome, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Vitale
authors.affiliation: Center for Human Genetics, K.U. Leuven, Gasthuisberg, Herestraat 49, Box 602, B-3000 Leuven, Belgium.
authors.forename: Iwona
authors.initials: I
authors.lastname: Wlodarska
authors.affiliation: Center for Human Genetics, K.U. Leuven, Gasthuisberg, Herestraat 49, Box 602, B-3000 Leuven, Belgium.
authors.forename: Peter
authors.initials: P
authors.lastname: Vandenberghe
authors.affiliation: Laboratory of Molecular Medicine, CREO, University of Perugia and A.O. Perugia, 06132 Perugia, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: La Starza
authors.affiliation: Laboratory of Molecular Medicine, CREO, University of Perugia and A.O. Perugia, 06132 Perugia, Italy. Electronic address: cristina.mecucci@unipg.it.
authors.forename: Cristina
authors.initials: C
authors.lastname: Mecucci
mesh_terms: D018952:Antigens, CD34 / Q000378:metabolism*; D002880:Chromosomes, Human, Pair 11; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000235:genetics; D015458:Leukemia, T-Cell / Q000235:genetics; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D014178:Translocation, Genetic
chemical_list: D018952:Antigens, CD34; D028861:Nuclear Pore Complex Proteins; C465451:Nup98 protein, human
keywords: Leukaemia; Lineage affiliation; NUP98 translocations; Single cell analysis