Year: 2011
Type: article
Study design: Observational Study
Abstract: Fluorescence in situ hybridization was performed to characterize 81 cases of myeloid and lymphoid malignancies with cytogenetic 1p36 alterations not affecting the PRDM16 locus. In total, three subgroups were identified: balanced translocations (N = 27) and telomeric rearrangements (N = 15), both mainly observed in myeloid disorders; and unbalanced non-telomeric rearrangements (N = 39), mainly observed in lymphoid proliferations and frequently associated with a highly complex karyotype. The 1p36 rearrangement was isolated in 12 cases, mainly myeloid disorders. The breakpoints on 1p36 were more widely distributed than previously reported, but with identifiable rare breakpoint cluster regions, such as the TP73 locus. We also found novel partner loci on 1p36 for the known multi-partner genes HMGA2 and RUNX1. We precised the common terminal 1p36 deletion, which has been suggested to have an adverse prognosis, in B-cell lymphomas [follicular lymphomas and diffuse large B-cell lymphomas with t(14;18)(q32;q21) as well as follicular lymphomas without t(14;18)]. Intrachromosomal telomeric repetitive sequences were detected in at least half the cases of telomeric rearrangements. It is unclear how the latter rearrangements occurred and whether they represent oncogenic events or result from chromosomal instability during oncogenesis.
Source: PLoS ONE
Authors: Francois P. Duhoux, Geneviève Ameye, Virginie Lambot, Christian Herens, Frédéric Lambert, Sophie Raynaud, Iwona Wlodarska, Lucienne Michaux, Catherine Roche-Lestienne, Elise Labis, Sylvie Taviaux, Elise Chapiro, Florence Nguyen Khac, Stéphanie Struski, Sophie Dobbelstein, Nicole Dastugue, Eric Lippert, Frank Speleman, Nadine Van Roy, An De Weer, Katrina Rack, Pascaline Talmant, Steven Richebourg, Francine Mugneret, Isabelle Tigaud, Marie-Joëlle Mozziconacci, Sophy Laibe, Nathalie Nadal, Christine Terré, Jeanne-Marie Libouton, Anabelle Decottignies, Miikka Vikkula, Hélène A. Poirel, on behalf of the Groupe Francophone de Cytogénétique Hématologique (GFCH) and of the Belgian Cytogenetic Group for Hematology and Oncology (BCG-HO)
Institutions: Cliniques Universitaires Saint-Luc, UCLouvain, Centre Hospitalier Universitaire de Liège, Centre Hospitalier Universitaire de Nice, KU Leuven, Centre Hospitalier Universitaire de Lille, Hôpital Arnaud de Villeneuve, Pitié-Salpêtrière Hospital, Hôpital Purpan, Centre Hospitalier Universitaire de Bordeaux, Ghent University Hospital, Institute of Pathology and Genetics, Centre Hospitalier Universitaire de Nantes, Nantes Université, CHU Dijon Bourgogne, Hôpital Lyon Sud, Institut Paoli-Calmettes, Centre Hospitalier de Versailles, de Duve Institute
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,382
OpenAlex ID: W2069936046