Itziar Salaverria

Itziar Salaverria
IDIBAPS August Pi i Sunyer Biomedical Research Institute | IDIBAPS · Division of Oncology and Haematology

PhD

About

168
Publications
17,547
Reads
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7,133
Citations
Citations since 2016
75 Research Items
4631 Citations
20162017201820192020202120220200400600
20162017201820192020202120220200400600
20162017201820192020202120220200400600
20162017201820192020202120220200400600
Additional affiliations
June 2011 - present

Publications

Publications (168)
Article
Intravascular large B-cell lymphoma (IVLBCL) is an uncommon lymphoma with an aggressive clinical course characterized by selective growth of tumor cells within the vessels. Its pathogenesis is still uncertain and there is little information on the underlying genomic alterations. In this study, we performed a clinicopathologic and next-generation se...
Article
With the introduction of large-scale molecular profiling methods and high-throughput sequencing technologies, the genomic features of most lymphoid neoplasms have been characterized at an unprecedented scale. While the principles for the classification and diagnosis of these disorders, founded on a multidimensional definition of disease entities, h...
Article
Background: T-cell lymphoblastic lymphoma (T-LBL) is an aggressive neoplasm closely related to T-cell acute lymphoblastic leukaemia (T-ALL). Despite their similarities, and contrary to T-ALL, studies on paediatric T-LBL are scarce and, therefore, its molecular landscape has not yet been fully elucidated. Thus, the aims of this study were to charac...
Article
Full-text available
The genetic landscape of post-transplant lymphoproliferative disorders (PTLD) in pediatric population has not been fully elucidated. This absence of information raises the question whether therapeutic strategies should be the same as for their counterparts in immunocompetent (IC) patients. The aim of this study was to characterize genetically and i...
Article
Pediatric nodal marginal zone lymphoma (PNMZL) is an uncommon B-cell neoplasm affecting mainly male children and young adults. This indolent lymphoma has distinct characteristics that differ from conventional nodal marginal zone lymphoma (NMZL). Clinically, it shows overlapping features with pediatric-type follicular lymphoma (PTFL). To explore the...
Preprint
Background T-cell lymphoblastic lymphoma (T-LBL) is an aggressive neoplasm closely related to T-cell acute lymphoblastic leukaemia (T-ALL). Despite their similarities, and contrary to T-ALL, studies on pediatric T-LBL are scarce and, therefore, its molecular landscape has not been fully elucidated yet. Procedure To characterize the genetic and mole...
Article
Introduction: Plasmablastic lymphoma (PBL) is an aggressive B-cell lymphoma that predominantly occurs in patients with HIV or other causes of immunodeficiency. Frequent infection by the Epstein-Barr virus (EBV) and MYC translocations have been described as major features contributing to the pathogenesis of PBL. Prior studies examining the genetic l...
Article
Relapsed or refractory diffuse large B‐cell lymphoma (DLBCL) cases have a poor outcome. Here we analysed clinico‐biological features in 373 DLBCL patients homogeneously treated with rituximab, cyclophosphamide, doxorubicin, vincristine and prednisolone (R‐CHOP), in order to identify variables associated with early failure to treatment (EF), defined...
Article
Vitreoretinal lymphoma (VRL) is a rare subtype of diffuse large B-cell lymphoma (DLBCL) considered a variant of primary central nervous system lymphoma (PCNSL). Diagnosis of VRL requires examination of vitreous fluid, but cytologic differentiation from uveitis remains difficult. Due to its rarity and difficulty in obtaining diagnostic material, lit...
Article
Full-text available
Plasmablastic lymphoma (PBL) is an aggressive B-cell lymphoma with an immunoblastic/large cell morphology and plasmacytic differentiation. The differential diagnosis with Burkitt lymphoma (BL), plasma cell myeloma (PCM) and some variants of diffuse large B-cell lymphoma (DLBCL) may be challenging due to the overlapping morphological, genetic and im...
Article
Fifty-five cases of t(14;18)− follicular lymphoma (FL) were genetically characterized by targeted sequencing and copy number (CN) arrays. t(14;18)− FL predominated in women (M/F 1:2); patients often presented during early clinical stages (71%), and had excellent prognoses. Overall, t(14;18)− FL displayed CN alterations (CNAs) and gene mutations car...
Article
Background and aims: Chromosomal instability is a hallmark of cancer that results in broad and focal copy number alterations (CNAs), two events associated with distinct molecular, immunological and clinical features. In hepatocellular carcinoma (HCC) the CNAs role has not been thoroughly assessed. Thus, we dissected the impact of CNA burdens on HC...
Article
Pediatric large B-cell lymphomas (LBCLs) share morphological and phenotypic features with adult types but have better prognosis. The higher frequency of some subtypes such as LBCL with IRF4 rearrangement (LBCL-IRF4) in children suggests that some age-related biological differences may exist. To characterize the genetic and molecular heterogeneity o...
Conference Paper
Introduction: Aneuploidy is a cancer hallmark that includes broad somatic copy-number alterations (SCNAs), being whole chromosome- or arm-level events, or smaller focal SCNAs. Pan-cancer studies suggest that tumor broad and focal SCNAs are linked to distinctive molecular/clinical traits, and broad SCNAs may potentially interfere with tumor immune i...
Article
Burkitt-like lymphoma with 11q aberration is characterized by pathological features and gene expression profile resembling those of Burkitt lymphoma but lacks the MYC rearrangement and carries an 11q-arm aberration with proximal gains and telomeric losses. Whether this lymphoma is a distinct category or a particular variant of other recognized enti...
Article
Rare cases of hematological precursor neoplasms fulfill the diagnostic criteria of mixed phenotype acute leukemia (MPAL), characterized by expression patterns of at least two hematopoietic lineages, for which a highly aggressive behavior was reported. We present a series of 11 pediatric non‐leukemic MPAL identified among 146 precursor lymphoblastic...
Article
Full-text available
Mantle cell lymphoma (MCL) is characterized by the t(11;14)(q13;q32) translocation resulting in overexpression of cyclin D1. However, a small subset of cyclin D1-negative MCL (cyclin D1– MCL) has been recognized, and approximately half of them harbor CCND2 translocations while the primary event in cyclin D1–/D2– MCL remains elusive. To identify oth...
Article
BACKGROUND Pediatric aggressive large B-cell lymphomas (LBCL) share morphological and phenotypic features with adult types but seem to have better prognosis. Additionally, a specific subtype carrying IRF4 translocations (LBCL-IRF4) has been recently identified in this age group. In adults, the cell-of-origin (COO) distinction of diffuse large B-cel...
Article
Full-text available
In families at risk from monogenic diseases affected offspring, it is fundamental the development of a suitable Double Factor Preimplantation Genetic Testing (DF-PGT) method for both single-gene analysis and chromosome complement screening. Aneuploidy is not only a major issue in advanced-maternal-age patients and balanced translocation carriers, b...
Data
Nexus software settings for CNV analysis. (DOCX)
Data
Embryo F4E1-GEH. On the left, mCGH results, reference used 46, XY. On the right, NGS-CNV summary plot, reference used 47,XY+15. Note that the loss of chromosome 15 observed is due to the reference used. (TIF)
Data
Embryo F1E2-RG. On the left, mCGH results, reference used 46, XY. On the right, NGS-CNV summary plot, reference used 46,XX. (TIF)
Data
Embryo F8E1-RG. On the left, mCGH results, reference used 46, XY. On the right, NGS-CNV summary plot, reference used 46,XX. (TIF)
Data
Embryo F1E1-GEH. On the left, mCGH results, reference used 46, XY. On the right, NGS-CNV summary plot, reference used 47,XY+15. Note that the loss of chromosome 15 observed is due to the reference used. (TIF)
Data
Embryo F2E1-GEH. On the left, mCGH results, reference used 46, XY. On the right, NGS-CNV summary plot, reference used 47,XY+15. Note that the loss of chromosome 15 observed is due to the reference used. (TIF)
Data
Embryo F3E1-GEH. On the left, mCGH results, reference used 46, XY. On the right, NGS-CNV summary plot, reference used 47,XY+15. Note that the loss of chromosome 15 observed is due to the reference used. (TIF)
Data
Embryo F5E1-GEH. On the left, mCGH results, reference used 46, XY. On the right, NGS-CNV summary plot, reference used 47,XY+15. Note that the loss of chromosome 15 observed is due to the reference used. (TIF)
Data
Embryo F6E1-GEH. On the left, mCGH results, reference used 46, XY. On the right, NGS-CNV summary plot, reference used 47,XY+15. Note that the loss of chromosome 15 observed is due to the reference used. (TIF)
Data
Embryo F2E2-RG. On the left, mCGH results, reference used 46, XY. On the right, NGS-CNV summary plot, reference used 46,XX. (TIF)
Data
Embryo F3E2-RG. On the left, mCGH results, reference used 46, XY. On the right, NGS-CNV summary plot, reference used 46,XX. (TIF)
Data
Embryo F10E1-RG. On the left, mCGH results, reference used 46, XY. On the right, NGS-CNV summary plot, reference used 46,XX. (TIF)
Data
Embryo F9E1-RG. On the left, mCGH results, reference used 46, XY. On the right, NGS-CNV summary plot, reference used 46,XX. (TIF)
Article
Full-text available
High-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements, mostly known as double-hit lymphoma (DHL), is a rare entity characterized by morphologic and molecular features between Burkitt lymphoma and the clinically manageable diffuse large B-cell lymphoma (DLBCL). DHL patients usually undergo a rapidly progressing clinical course asso...
Article
Full-text available
Genome studies of chronic lymphocytic leukemia (CLL) have revealed the remarkable subclonal heterogeneity of the tumors, but the clinical implications of this phenomenon are not well known. We assessed the mutational status of 28 CLL driver genes by deep-targeted next-generation sequencing and copy number alterations (CNA) in 406 previously untreat...
Article
Full-text available
We previously described a subset of MYC translocation-negative aggressive B-cell lymphomas resembling Burkitt lymphoma, characterized by proximal gains and distal losses in chromosome 11. In the 2016 WHO classification, these MYC-negative lymphomas were recognized as a new provisional entity, ‘Burkitt-like lymphoma with 11q aberration’. Here we pre...
Article
Full-text available
Genome studies of diffuse large B-cell lymphoma (DLBCL) have revealed a large number of somatic mutations and structural alterations. However, the clinical significance of these alterations is still not well defined. In this study we have integrated the analysis of targeted next generation sequencing of 106 genes and genomic copy number alterations...
Article
Pediatric-type follicular lymphoma (PTFL) is a B-cell lymphoma with distinctive clinicopathological features. Recently, recurrent genetic alterations of potential importance for its pathogenesis that disrupt pathways associated with the germinal center reaction (TNFRSF14, IRF8), immune escape (TNFRSF14), and anti-apoptosis (MAP2K1) have been descri...
Conference Paper
Double-hit lymphoma (DHL) is a rare subtype of B-cell lymphoma characterized by MYC and either BCL2 or BCL6 chromosomal rearrangements. DHL cases may have different morphology and are included in the updated 2016 WHO classification as a new category of high grade B-cell lymphoma with rearrangements. DHL patients usually undergo a rapidly progressin...
Conference Paper
Background: Diffuse large B-cell lymphoma (DLBCL) may occur in children. Pediatric tumors share morphological and phenotypic features with the adult type but seem to have better prognosis. Nevertheless, molecular characteristics of this particular group of patients are not well known. The cell-of-origin (COO) distinction of DLBCL based on patterns...
Article
MYC translocation is a defining feature of Burkitt lymphoma (BL), and the new category of high-grade B-cell lymphomas with MYC and BCL2 and/or BCL6 translocations, and occurs in 6% to 15% of diffuse large B-cell lymphomas (DLBCLs). The low incidence of MYC translocations in DLBCL makes the genetic study of all these lymphomas cumbersome. Strategies...
Article
Introduction SOX11 is a transcription factor (TF) aberrantly expressed in the majority of mantle cell lymphomas (MCLs), which is generally associated with aggressive clinical behaviour. No mutations, genetic aberrations or direct correlations with differential DNA methylation at the promoter related to its expression have been found in MCL. Deeper...
Article
Introduction Recent large scale genomic studies have disclosed the heterogeneity of the mutational landscape of chronic lymphocytic leukemia (CLL). The remarkable genomic plasticity of this disease has been further emphasized by the complex subclonal composition recognized in some tumors. Initial studies using high-coverage next generation sequenci...
Article
Introduction: DLBCL is biological and clinically highly heterogeneous. Although different genetic aberrations, including recurrent somatic mutations, have been described in this tumor, their clinical impact remains to be clarified. The aim of the present study was to determine somatic mutations and copy number alterations of a selected group of gen...
Article
Full-text available
We analyzed the in silico purified DNA methylation signatures of 82 mantle cell lymphomas (MCL) in comparison with cell subpopulations spanning the entire B cell lineage. We identified two MCL subgroups, respectively carrying epigenetic imprints of germinal-center-inexperienced and germinal-center-experienced B cells, and we found that DNA methylat...
Article
Aims and methods: We aimed to define the clinicopathological characteristics of 29 primary sinonasal diffuse large B-cell lymphoma (DLBCL(sn) ) in a series of 240 DLBCL(all NOS) including DLBCL(sn) training set (n=11) and validation set (n=18), and DLBCL(non-sn) (n=211). Results: In the training set 82% had non-GCB phenotype and 18% were EBER(+)...
Data
Document S1. Supplemental Experimental Procedures, Figures S1–S3, and Table S1–S5