Alberto Valiente

Hospital Universitario de Navarra

Introduction Rearrangements of the BCL3 gene due to the translocation t(14;19)(q32;q13) can be identified in up to 1% of chronic lymphocytic leukemias (CLL) with stimulated karyotype and is associated with an adverse outcome. In this study, we aimed at unraveling the clinico-molecular features of CLL harboring t(14;19), including the response to no...

INTRODUCTION. Chromosome banding analysis (CBA) is the gold standard to identify complex karyotypes (CK; ≥3 chromosomal aberrations in the same clone). CK are predictors of poor prognosis and treatment refractoriness in patients with chronic lymphocytic leukemia (CLL). Patients with CK (15% at diagnosis) constitute a heterogeneous subgroup with hig...

Multiple myeloma (MM) is a very heterogeneous disease, characterized by multiple cytogenetic aberrations on plasma cells (PC) that have been traditionally used to predict the outcome of the disease. A mayor issue on the analysis of PC is the sometimes low infiltration of these cells in the bone marrow that hampers cytogenetic studies. To solve this...

Although i(17q) [i(17q)] is frequently detected in hematological malignancies, few studies have assessed its clinical role in chronic lymphocytic leukemia (CLL). We recruited a cohort of 22 CLL patients with i(17q) and described their biological characteristics, mutational status of the genes TP53 and IGHV and genomic complexity. Furthermore, we an...

Genomic complexity identified by chromosome banding analysis (CBA) predicts a worse clinical outcome in CLL patients treated either with standard or new treatments. Herein, we analyzed the clinical impact of complex karyotypes (CK) with or without high-risk FISH deletions (ATM and/or TP53, HR-FISH) in a cohort of 1045 untreated MBL/CLL patients. In...

Our study aimed to analyze the presence of mutations in SF3B1 and other spliceosome-related genes in myelodysplastic syndromes with ringed sideroblasts (MDS-RS) by combining conventional Sanger and next-generation sequencing (NGS) methods, and to determine the feasibility of this approach in a clinical setting. 122 bone marrow samples from MDS-RS p...

Patients with chronic lymphocytic leukemia (CLL) harboring TP53 aberrations (TP53abs; chromosome 17p deletion and/or TP53 mutation) exhibit an unfavorable clinical outcome. Chromosome 8 abnormalities, namely losses of 8p (8p-) and gains of 8q (8q+) have been suggested to aggravate the outcome of patients with TP53abs. However, the reported series w...

INTRODUCTION Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal myeloid stem cell disorders highly prevalent in elderly populations. MDS are characterized by inefficient hematopoiesis, peripheral blood (PB) cytopenias, and increased risk of transformation to acute myeloid leukemia (AML; 20–30%). Around 50% of MDS patients carry at...

Basis. Abnormalities in chromosome 8 (8p-/8q+) are observed in 2-5% of CLL patients. Microarray studies have revealed up to 30-40% of 8 alterations in del(17p) patients and an independent association with poor outcome. Large series assessing CLL patients with 8p-/8q+ are scarce. Aims. 1. To describe the frequency of 8q gains (8q+) and 8p losses (8p...

INTRODUCTION AND AIMS: Abnormalities of chromosome 1 (chr 1) are frequently found in hematopoietic stem cell disorders, but their impact and prognosis in Myelodysplastic Syndrome (MDS) remains unclear. For this reason, we retrospectively analyzed a large series of patients. MATERIALS AND METHODS: A series of 90 patients with MDS and abnormalities o...

Deletion of 13q14 as the sole abnormality is a good prognostic marker in chronic lymphocytic leukemia (CLL). Nonetheless, the prognostic value of reciprocal 13q14 translocations [t(13q)] with related 13q losses has not been fully elucidated. We described clinical and biological characteristics of 25 CLL patients with t(13q), and compared with 62 pa...

Losses in 13q as a sole abnormality confer a good prognosis in chronic lymphocytic leukaemia (CLL). Nevertheless, its heterogeneity has been demonstrated and the clinical significance of biallelic 13q deletions remains controversial. We compared the clinico-biological characteristics of a series of 627 patients harbouring isolated 13q deletions by...

Fundamento. El conocimiento de factores que se comportan como pronósticos en la leucemia linfoblástica aguda (LLA) es cada vez más importante para establecer una estrategia de tratamiento correcta. Se analiza la supervivencia global (SG), supervivencia libre de eventos (SLE) y los factores pronósticos en 16 años de experiencia en nuestra comunidad....

The determination of prognostic factors in acute lymphoblastic leukaemia (ALL) is increasingly important in establishing a correct treatment. We analyse the overall survival (OS), event free survival (EFS) and prognostic factors in our 16 years experience of treating acute lymphoblastic leukaemia. We performed univariate and multivariate analyses o...

Fragile X syndrome is caused by the absence or reduction of the fragile X mental retardation protein (FMRP) because FMR1 gene expression is reduced. Alleles with repeat sizes of 55-200 are classified as premutations, and it has been demonstrated that FMR1 expression is elevated in the premutation range. However, the majority of the studies reported...

Una proporción de los cánceres colorrectales presentan algún tipo de predisposición genética que es posible reconocer en la práctica clínica. Desde los clásicos patrones hereditarios dominantes de la poliposis adenomatosa familiar o el cáncer de colon hereditario no asociado a poliposis, pasando por la transmisión recesiva mostrada por la poliposis...

A proportion of colorectal cancers shows some type of genetic predisposition that can be recognised in clinical practice. From the classical dominant inheritance pattern of familial adenomatous polyposis or hereditary non-polyposis colorectal cancer, through the recessive transmission of the MYH associated polyposis, to the new syndromes of the "se...

Prior to the discovery of the Huntington's disease (HD) mutation, the prevalence, incidence, and new mutation rates for this disease were based on the presence of progressive choreic movements and a positive family history. To evaluate the uptake of the HD genetic analysis in Spain, and to provide additional information on the epidemiology of this...

The association between the presence of the allele APOE*epsilon4 (apolipoprotein E) and sporadic Alzheimer disease (AD) has been long established. However, the possible influence of other genetic factors is still under debate. This study investigated the role of the a 1-antichymotrypsin (ACT) gene as a susceptibility factor for developing late-onse...

Background and objective The association between the presence of the allele APOE*ε4 (apolipoprotein E) and sporadic Alzheimer disease (AD) has been long established. However, the possible influence of other genetic factors is still under debate. This study investigated the role of the a 1-antichymotrypsin (ACT) gene as a susceptibility factor for d...

RESUMEN La anemia de Fanconi (AF) es un síndrome de ines-tabilidad cromosómica, autosómico recesivo, caracte-rizado por una hipersensibilidad del DNA a agentes clastogénicos. Clínicamente presenta una insuficiencia medular progresiva, diversas anomalías congénitas e incremento en la predisposición a padecer enfermeda-des malignas. Se han definido o...

Fanconi's anaemia (FA) is an autosomal recessive syndrome associated with chromosomal instability, and hypersensitivity of the DNA to claustrogenic agents. Clinically it presents a progressive marrow insufficiency, different congenital anomalies and an predisposition to malignancy. Eight complementation groups have been defined and the genes corres...

We report two adult patients with Philadelphia chromosome positive (Ph+) B-cell acute lymphoblastic leukemia (ALL) who presented an additional dic(16;18)(q11;p11) that, to the best of our knowledge, has never been previously reported. Fluorescence in situ hybridization analysis confirmed the translocation and showed it to be dicentric. Both patient...

Heat shock proteins (HSP) are thought to play a role in the immune response making probable their contribution to celiac disease (CD). We studied the polymorphisms in the 5' regulatory region of the HSP70-1 gene and performed genomic HLA-DQ and -DR typing in 128 CD patients and 94 healthy controls from Navarra (Spain). The frequency of the C allele...

We report on two sibs and a cousin with bilateral choanal atresia. At 2 months, one sib died of complications following surgical correction of her defects. We evaluated her brother and cousin at age 7 and 9 years, respectively. Both had a tall forehead, maxillary hypoplasia, prognathism, and absence of certain deciduous and permanent teeth. Psychom...

Editor—Hereditary neuropathy with liability to pressure palsies (HNPP) or tomaculous neuropathy is an autosomal dominant disease.1 HNPP patients present with acute or recurrent transient muscle palsies and paraesthesias, usually after minor trauma. HNPP is characterised from the pathological point of view by the presence of sausage shaped swelling...

Congenital deafness is a relatively frequent disorder that shows a heterogeneous aetiology. Knowledge and the control of some risk factors have decreased the incidence of acquired deafness and increased the relative importance of genetic cause. In an attempt to investigate the clinical relevance of congenital deafness and the mechanisms of preventi...

We report on a baby with holoprosencephaly, median cleft lip, cardiac and genital anomalies, normal upper limbs, and a 46,XX karyotype. We also reviewed 22 karyotypically normal cases whose clinical features resembled trisomy 13 syndrome and compared them with the case we present. The problem of variable expression of the pseudotrisomy 13 syndrome...

We have studied the haematologic, cytogenetic and molecular features in a patient with Ph positive ALL. The cytogenetic study showed the presence of a Ph chromosome since diagnosis. Molecular analysis showed rearrangement within the first intron of bcr gen instead of M-bcr as in CML. This an evidence of genic fusion between c-abl oncogene and bcr g...

We have studied the haematologic cytogenetic and molecular features in a patient with Ph negative CML of 15 years of evolution. Cytogenetic analysis showed a normal karyotype in different studies. Molecular study showed rearrangement within bcr region. This gene fusion between c-abl oncogene and bcr gene is typical of the Ph chromosome. These resul...

Thirteen cases of Ph-positive CML have been studied from a cytogenetic and molecular point of view. All cases had Ph chromosome identified as t(9;22). Three of these cases were in blast crisis, and additional alterations to the Ph chromosome were found. The molecular study was made using the 3'bcr probe to analyze the ability to detect the transloc...