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PRDM16 (1p36) translocations define a distinct entity of myeloid malignancies with poor prognosis but may also occur in lymphoid malignancies

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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.
Keywords
PRDM16, 1p36, acute myeloid leukaemia, myelodysplastic syndrome, lymphoid malignancy, ACUTE LYMPHOBLASTIC-LEUKEMIA, RUNX1-PRDM16 FUSION, GENE-EXPRESSION, BONE-MARROW, MEL1, CELLS, T(1/3)(P36, Q21), IDENTIFICATION, TRANSCRIPTS, PATIENT

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MLA
Duhoux, François P, Geneviève Ameye, Carmen P Montano-Almendras, et al. “PRDM16 (1p36) Translocations Define a Distinct Entity of Myeloid Malignancies with Poor Prognosis but May Also Occur in Lymphoid Malignancies.” BRITISH JOURNAL OF HAEMATOLOGY 156.1 (2012): 76–88. Print.
APA
Duhoux, F. P., Ameye, G., Montano-Almendras, C. P., Bahloula, K., Mozziconacci, M. J., Laibe, S., Wlodarska, I., et al. (2012). PRDM16 (1p36) translocations define a distinct entity of myeloid malignancies with poor prognosis but may also occur in lymphoid malignancies. BRITISH JOURNAL OF HAEMATOLOGY, 156(1), 76–88.
Chicago author-date
Duhoux, François P, Geneviève Ameye, Carmen P Montano-Almendras, Khadija Bahloula, Marie J Mozziconacci, Sophy Laibe, Iwona Wlodarska, et al. 2012. “PRDM16 (1p36) Translocations Define a Distinct Entity of Myeloid Malignancies with Poor Prognosis but May Also Occur in Lymphoid Malignancies.” British Journal of Haematology 156 (1): 76–88.
Chicago author-date (all authors)
Duhoux, François P, Geneviève Ameye, Carmen P Montano-Almendras, Khadija Bahloula, Marie J Mozziconacci, Sophy Laibe, Iwona Wlodarska, Lucienne Michaux, Pascaline Talmant, Steven Richebourg, Eric Lippert, Franki Speleman, Christian Herens, Stéphanie Struski, Sophie Raynaud, Nathalie Auger, Nathalie Nadal, Katrina Rack, Francine Mugneret, Isabelle Tigaud, Marina Lafage, Sylvie Taviaux, Catherine Roche-Lestienne, Dominique Latinne, Jeanne M Libouton, Jean-Baptiste Demoulin, and Hélène A Poirel. 2012. “PRDM16 (1p36) Translocations Define a Distinct Entity of Myeloid Malignancies with Poor Prognosis but May Also Occur in Lymphoid Malignancies.” British Journal of Haematology 156 (1): 76–88.
Vancouver
1.
Duhoux FP, Ameye G, Montano-Almendras CP, Bahloula K, Mozziconacci MJ, Laibe S, et al. PRDM16 (1p36) translocations define a distinct entity of myeloid malignancies with poor prognosis but may also occur in lymphoid malignancies. BRITISH JOURNAL OF HAEMATOLOGY. 2012;156(1):76–88.
IEEE
[1]
F. P. Duhoux et al., “PRDM16 (1p36) translocations define a distinct entity of myeloid malignancies with poor prognosis but may also occur in lymphoid malignancies,” BRITISH JOURNAL OF HAEMATOLOGY, vol. 156, no. 1, pp. 76–88, 2012.
@article{3172242,
  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.},
  author       = {Duhoux, François P and Ameye, Geneviève and Montano-Almendras, Carmen P and Bahloula, Khadija and Mozziconacci, Marie J and Laibe, Sophy and Wlodarska, Iwona and Michaux, Lucienne and Talmant, Pascaline and Richebourg, Steven and Lippert, Eric and Speleman, Franki and Herens, Christian and Struski, Stéphanie and Raynaud, Sophie and Auger, Nathalie and Nadal, Nathalie and Rack, Katrina and Mugneret, Francine and Tigaud, Isabelle and Lafage, Marina and Taviaux, Sylvie and Roche-Lestienne, Catherine and Latinne, Dominique and Libouton, Jeanne M and Demoulin, Jean-Baptiste and Poirel, Hélène A},
  issn         = {0007-1048},
  journal      = {BRITISH JOURNAL OF HAEMATOLOGY},
  keywords     = {PRDM16,1p36,acute myeloid leukaemia,myelodysplastic syndrome,lymphoid malignancy,ACUTE LYMPHOBLASTIC-LEUKEMIA,RUNX1-PRDM16 FUSION,GENE-EXPRESSION,BONE-MARROW,MEL1,CELLS,T(1/3)(P36,Q21),IDENTIFICATION,TRANSCRIPTS,PATIENT},
  language     = {eng},
  number       = {1},
  pages        = {76--88},
  title        = {PRDM16 (1p36) translocations define a distinct entity of myeloid malignancies with poor prognosis but may also occur in lymphoid malignancies},
  url          = {http://dx.doi.org/10.1111/j.1365-2141.2011.08918.x},
  volume       = {156},
  year         = {2012},
}

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