Refinement of 1p36 Alterations Not Involving PRDM16 in Myeloid and Lymphoid Malignancies

Duhoux, Francois P; Ameye, Geneviève; Lambot, Virginie; Herens, Christian; Lambert, Frédéric; Raynaud, Sophie; Wlodarska, Iwona; Michaux, Lucienne; Roche-Lestienne, Catherine; Labis, Elise; Taviaux, Sylvie; Chapiro, Elise; Khac, Florence Nguyen; Struski, Stéphanie; Dobbelstein, Sophie; Dastugue, Nicole; Lippert, Eric; Speleman, Frank; Van Roy, Nadine; De Weer, An; Rack, Katrina; Talmant, Pascaline; Richebourg, Steven; Mugneret, Francine; Tigaud, Isabelle; Mozziconacci, Marie-Joëlle; Laibe, Sophy; Nadal, Nathalie; Terré, Christine; Libouton, Jeanne-Marie; Decottignies, Anabelle; Vikkula, Miikka; Poirel, Hélène A; on behalf of the Groupe Francophone de Cytogénétique Hématologique (GFCH) and of the Belgian Cytogenetic Group for Hematology and Oncology (BCG-HO),

doi:10.1371/journal.pone.0026311

Refinement of 1p36 Alterations Not Involving PRDM16 in Myeloid and Lymphoid Malignancies

Author:

Duhoux, Francois P

Ameye, Geneviève ; Lambot, Virginie ; Herens, Christian ; Lambert, Frédéric ; Raynaud, Sophie ; Wlodarska, Iwona ; Michaux, Lucienne ; Roche-Lestienne, Catherine ; Labis, Elise ; Taviaux, Sylvie ; Chapiro, Elise ; Khac, Florence Nguyen ; Struski, Stéphanie ; Dobbelstein, Sophie ; Dastugue, Nicole ; Lippert, Eric ; Speleman, Frank ; Van Roy, Nadine ; De Weer, An ; Rack, Katrina ; Talmant, Pascaline ; Richebourg, Steven ; Mugneret, Francine ; Tigaud, Isabelle ; Mozziconacci, Marie-Joëlle ; Laibe, Sophy ; Nadal, Nathalie ; Terré, Christine ; Libouton, Jeanne-Marie ; Decottignies, Anabelle ; Vikkula, Miikka ; Poirel, Hélène A ; on behalf of the Groupe Francophone de Cytogénétique Hématologique (GFCH) and of the Belgian Cytogenetic Group for Hematology and Oncology (BCG-HO),

Keywords:

Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, CHRONIC LYMPHOCYTIC-LEUKEMIA, NON-HODGKINS-LYMPHOMAS, TUMOR-SUPPRESSOR GENE, IN-SITU HYBRIDIZATION, FOLLICULAR LYMPHOMA, COPY NUMBER, CHROMOSOMAL TRANSLOCATIONS, MYELODYSPLASTIC SYNDROME, CYTOGENETIC ANALYSIS, NEUROBLASTOMA, Cell Line, Chromosome Aberrations, Chromosomes, Human, Pair 1, DNA-Binding Proteins, Hematologic Neoplasms, Humans, In Situ Hybridization, Fluorescence, Polymorphism, Single Nucleotide, Telomere, Transcription Factors, Groupe Francophone de Cytogénétique Hématologique (GFCH), Belgian Cytogenetic Group for Hematology and Oncology (BCG-HO), General Science & Technology

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.