Research Topics
Genomes and Genes | Idoya LahortigaSummaryAffiliation: University of Navarra Country: Spain Publications
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Publications
NUP98 is fused to HOXA9 in a variant complex t(7;11;13;17) in a patient with AML-M2Idoya Lahortiga
Department of Genetics, School of Science, University of Navarra, C Irunlarrea s n, 31008 Pamplona, Spain
Cancer Genet Cytogenet 157:151-6. 2005..To our knowledge, this is the first t(7;11) variant involving NUP98 described in hematological malignancies...- FISH analysis of hematological neoplasias with 1p36 rearrangements allows the definition of a cluster of 2.5 Mb included in the minimal region deleted in 1p36 deletion syndromeIdoya Lahortiga
Laboratory of Genetics, Division of Oncology, Center for Applied Medical Research CIMA, University of Navarra, Pio XII, 55, 31080, Pamplona, Spain
Hum Genet 116:476-85. 2005..5 Mb of the complete 1p36 band. This could explain its proneness for involvement in chromosomal rearrangements in hematological neoplasias... - Molecular characterization of a t(1;3)(p36;q21) in a patient with MDS. MEL1 is widely expressed in normal tissues, including bone marrow, and it is not overexpressed in the t(1;3) cellsIdoya Lahortiga
Department of Genetics, University of Navarra, C Irunlarrea s n, Pamplona 31008, Spain
Oncogene 23:311-6. 2004..The clinicopathological features and the breakpoint on 1p36 are different from cases previously described, and MEL1 is not overexpressed, suggesting a heterogeneity in myeloid neoplasias with t(1;3)... - NIN, a gene encoding a CEP110-like centrosomal protein, is fused to PDGFRB in a patient with a t(5;14)(q33;q24) and an imatinib-responsive myeloproliferative disorderJose L Vizmanos
Department of Genetics, University of Navarra, Pamplona, Spain
Cancer Res 64:2673-6. 2004..After treatment with imatinib, the patient achieved hematological and cytogenetical remission, but NIN-PDGFRB mRNA remained detectable by reverse transcription-PCR... - Molecular heterogeneity in AML/MDS patients with 3q21q26 rearrangementsIdoya Lahortiga
Department of Genetics, University of Navarra, Pamplona, Spain
Genes Chromosomes Cancer 40:179-89. 2004..Our data suggest that a unique mechanism is not likely to be involved in 3q21q26 rearrangements... - Coexistence of different clonal populations harboring the b3a2 (p210) and e1a2 (p190) BCR-ABL1 fusion transcripts in chronic myelogenous leukemia resistant to imatinibXabier Agirre
Area of Cancer, Area of Cell Therapy and Hematology Service, University Clinic, University of Navarra and Foundation for Applied Medical Research, Avda. Pio XII 36, Pamplona, Spain
Cancer Genet Cytogenet 160:22-6. 2005..Loss of normal BCR in one cell clone may contribute to the resistance to imatinib due to the lack of BCR mediated inhibition of BCR-ABL1... - t(10;16)(q22;p13) and MORF-CREBBP fusion is a recurrent event in acute myeloid leukemiaJose L Vizmanos
Department of Genetics, School of Science, University of Navarra, C Irunlarrea s n, 31080 Pamplona, Spain
Genes Chromosomes Cancer 36:402-5. 2003..This supports that this is a recurrent pathogenic translocation in AML... - Molecular cytogenetic characterization of breakpoints in 19 patients with hematologic malignancies and 12p unbalanced translocationsMaria D Odero
Department of Genetics, University of Navarra, C Irunlarrea s n, 31008, Pamplona, Spain
Cancer Genet Cytogenet 142:115-9. 2003..In these four cases and in two others (6/19, 31.5%), the fusion with the partner chromosome was in the subtelomeric region of 12p13.3, confirming that there is a recurrent breakpoint in this region... - A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndromeMaria D Odero
Department of Genetics, University of Navarra, Pamplona, Spain
Genes Chromosomes Cancer 35:11-9. 2002..Possible mechanisms to account for the development of MDS in this patient are discussed... - NUP98 is fused to adducin 3 in a patient with T-cell acute lymphoblastic leukemia and myeloid markers, with a new translocation t(10;11)(q25;p15)Idoya Lahortiga
Department of Genetics, University of Navarra, 31008 Pamplona, Spain
Cancer Res 63:3079-83. 2003..This region is always retained in the fusion transcript with the NH(2) terminus FG repeats of NUP98, suggesting an important role in the mechanism of leukemogenesis... - Down-regulation of EVI1 is associated with epigenetic alterations and good prognosis in patients with acute myeloid leukemiaIria Vázquez
Division of Oncology, CIMA, University of Navarra, Pamplona, Spain
Haematologica 96:1448-56. 2011..Over-expression of EVI1 through either 3q26 rearrangements, MLL fusions, or other unknown mechanisms confers a poor prognosis in acute myeloid leukemia... - TP53 is frequently altered by methylation, mutation, and/or deletion in acute lymphoblastic leukaemiaXabier Agirre
Department of Genetics, School of Sciences, University of Navarra, Pamplona, Navarra, Spain
Mol Carcinog 38:201-8. 2003..Using these techniques, we have found promoter methylation in 32% of the cases, missense mutations in 8.8%, and deletion of one allele in 7.5% of the samples, with TP53 being altered in 40% of the ALL samples studied in this series... - Abnormal methylation of the common PARK2 and PACRG promoter is associated with downregulation of gene expression in acute lymphoblastic leukemia and chronic myeloid leukemiaXabier Agirre
Foundation for Applied Medical Research, Division of Cancer, Area of Cell Therapy and Hematology Service, Clinica Universitaria, Universidad de Navarra, Pamplona, Spain
Int J Cancer 118:1945-53. 2006.... - Simultaneous translocations of FGFR3/MMSET and CCND1 into two different IGH alleles in multiple myeloma: lack of concurrent activation of both proto-oncogenesBorja Saez
Institute of Human Genetics, University Hospital Schleswig Holstein, Campus Kiel, Kiel, Germany
Cancer Genet Cytogenet 175:65-8. 2007..Moreover, the upregulated oncogenes differed between both samples. Thus, biallelic IGH translocations might exert different pathogenetic effects in plasma cell disorders... - In vitro validation of gamma-secretase inhibitors alone or in combination with other anti-cancer drugs for the treatment of T-cell acute lymphoblastic leukemiaKim De Keersmaecker
Human Genome Laboratory, Department of Molecular and Developmental Genetics, VIB, Leuven, Belgium
Haematologica 93:533-42. 2008.... - Activity of imatinib in systemic mastocytosis with chronic basophilic leukemia and a PRKG2-PDGFRB fusionIdoya Lahortiga
Human Genome Laboratory, Department of Molecular and Developmental Genetics, VIB, Leuven, Belgium
Haematologica 93:49-56. 2008..We report an unusual case of a patient presenting with peripheral basophilia and systemic mastocytosis in whom cytogenetic analysis revealed a t(4;5)(q21.1;q31.3)... - Overexpression of sPRDM16 coupled with loss of p53 induces myeloid leukemias in miceDanielle C Shing
Department of Experimental Oncology, European Institute of Oncology, Milan, Italy
J Clin Invest 117:3696-707. 2007..Thus, overexpression of sPRDM16 induces abnormal growth of stem cells and progenitors and cooperates with disruption of the p53 pathway in the induction of myeloid leukemia... - Duplication of the MYB oncogene in T cell acute lymphoblastic leukemiaIdoya Lahortiga
Human Genome Laboratory, Department of Molecular and Developmental Genetics, Vlaams Instituut voor Biotechnologie VIB, Leuven, Belgium
Nat Genet 39:593-5. 2007..Our results identify duplication of MYB as an oncogenic event and suggest that MYB could be a therapeutic target in human T-ALL... - The ability of sorafenib to inhibit oncogenic PDGFRbeta and FLT3 mutants and overcome resistance to other small molecule inhibitorsEls Lierman
Department of Molecular and Developmental Genetics, Flanders Interuniversity Institute for Biotechnology VIB, University of Leuven, Leuven, Belgium
Haematologica 92:27-34. 2007..We investigated the efficacy of sorafenib at inhibiting mutants of the receptor tyrosine kinases PDGFRbeta, KIT, and FLT3, which are implicated in the pathogenesis of myeloid malignancies... - Novel translocations that disrupt the platelet-derived growth factor receptor beta (PDGFRB) gene in BCR-ABL-negative chronic myeloproliferative disordersE Joanna Baxter
Wessex Regional Genetics Laboratory, Salisbury District Hospital, UK
Br J Haematol 120:251-6. 2003..Our data indicate that several PDGFRB partner genes remain to be characterized... - A new complex rearrangement involving the ETV6, LOC115548, and MN1 genes in a case of acute myeloid leukemiaElena Belloni
IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
Genes Chromosomes Cancer 41:272-7. 2004..This study lends further support to the hypothesis that gene disruption resulting in either loss of function or haploinsufficiency may be relevant in acute myeloid leukemia pathogenesis... - A novel t(2;3)(p11;q27) in a case of follicular lymphomaCinzia Tapinassi
IFOM, FIRC Institute for Molecular Oncology Foundation, Via Adamello 16, 20139 Milan, Italy
Cancer Genet Cytogenet 172:70-3. 2007..To date, eight different rearrangements involving the ABR have been reported. Here, we describe a novel rearrangement involving a t(2;3)(p11;q27) translocation that affects the ABR in an unusual combination with the IGK locus...