title: Clonal selection of 11q CN-LOH and CBL gene mutation in a serially studied patient during MDS progression to AML.
abstract: By conventional metaphase and SNP array cytogenetics we serially studied a patient affected by high-risk myelodysplastic syndrome (MDS), documenting the conversion from partial trisomy 8q to trisomy 8 and partial tetrasomy 8q during progression to acute myeloid leukemia (AML). Moreover, the serial application of high resolution genomic array analysis at different disease stages allowed the description of cryptic abnormalities and the demonstration of their enrichment in the AML phase. In particular the detection and quantification of a copy-neutral loss of heterozygosity region located in chromosome 11q guided the search for point mutations in the CBL gene, thus allowing the escription of the novel missense mutation K382E and the demonstration of its selection during progression to secondary AML.
authors.affiliation: Laboratorio sui Sistemi Complessi, Scuola Superiore di Catania, University of Catania, Italy.
authors.forename: Vincenza
authors.initials: V
authors.lastname: Barresi
authors.forename: Giuseppe Alberto
authors.initials: GA
authors.lastname: Palumbo
authors.forename: Nicolò
authors.initials: N
authors.lastname: Musso
authors.forename: Carla
authors.initials: C
authors.lastname: Consoli
authors.forename: Carmela
authors.initials: C
authors.lastname: Capizzi
authors.forename: Carmela Rita
authors.initials: CR
authors.lastname: Meli
authors.forename: Alessandra
authors.initials: A
authors.lastname: Romano
authors.forename: Francesco
authors.initials: F
authors.lastname: Di Raimondo
authors.forename: Daniele Filippo
authors.initials: DF
authors.lastname: Condorelli
mesh_terms: D002880:Chromosomes, Human, Pair 11; D002898:Chromosomes, Human, Pair 8; D002999:Clone Cells; D018450:Disease Progression; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology; D019656:Loss of Heterozygosity; D008297:Male; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology; D016609:Neoplasms, Second Primary; D050721:Proto-Oncogene Proteins c-cbl / Q000235:genetics*; D014314:Trisomy
chemical_list: D050721:Proto-Oncogene Proteins c-cbl; C067419:CBL protein, human