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Title: PRDM16 (1p36) translocations define a distinct entity of myeloid malignancies with poor prognosis but may also occur in lymphoid malignancies
Authors: Duhoux, Francois P ×
Ameye, Geneviève
Montano-Almendras, Carmen P
Bahloula, Khadija
Mozziconacci, Marie J
Laibe, Sophy
Wlodarska, Iwona
Michaux, Lucienne
Talmant, Pascaline
Richebourg, Steven
Lippert, Eric
Speleman, Frank
Herens, Christian
Struski, Stéphanie
Raynaud, Sophie
Auger, Nathalie
Nadal, Nathalie
Rack, Katrina
Mugneret, Francine
Tigaud, Isabelle
Lafage, Marina
Taviaux, Sylvie
Roche-Lestienne, Catherine
Latinne, Dominique
Libouton, Jeanne M
Demoulin, Jean-Baptiste
Poirel, Hélène A
on behalf of the Groupe Francophone de Cytogénétique Hématologique (GFCH) and of the Belgian Cytogenetic Group for Haematology and Oncology (BCG-HO) #
Issue Date: Jan-2012
Publisher: Blackwell Scientific Publications
Series Title: British Journal of Haematology vol:156 issue:1 pages:76-88
Article number: 10.1111/j.1365-2141.2011.08918.x
Abstract: The PRDM16 (1p36) gene is rearranged in acute myeloid leukaemia (AML) and myelodysplastic syndrome (MDS) with t(1;3)(p36;q21), sharing characteristics with AML and MDS with MECOM (3q26.2) translocations. We used fluorescence in situ hybridization to study 39 haematological malignancies with translocations involving PRDM16 to assess the precise breakpoint on 1p36 and the identity of the partner locus. Reverse-transcription polymerase chain reaction (PCR) was performed in selected cases in order to confirm the partner locus. PRDM16 expression studies were performed on bone marrow samples of patients, normal controls and CD34(+) cells using TaqMan real-time quantitative PCR. PRDM16 was rearranged with the RPN1 (3q21) locus in 30 cases and with other loci in nine cases. The diagnosis was AML or MDS in most cases, except for two cases of lymphoid proliferation. We identified novel translocation partners of PRDM16, including the transcription factors ETV6 and IKZF1. Translocations involving PRDM16 lead to its overexpression irrespective of the consequence of the rearrangement (fusion gene or promoter swap). Survival data suggest that patients with AML/MDS and PRDM16 translocations have a poor prognosis despite a simple karyotype and a median age of 65 years. There seems to be an over-representation of late-onset therapy-related myeloid malignancies.
URI: 
ISSN: 0007-1048
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Genetics of Malignant Disorders
× corresponding author
# (joint) last author

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