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Publications (8)

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    Lucas Krauel · Luis García-Aparicio · Noelia Pérez · [...] · Josep María Ribó
    [Show abstract] [Hide abstract] ABSTRACT: Malakoplakia is a rare chronic inflammatory disease that was originally described in the urinary bladder but can involve many other organs and soft tissues. It is believed to be caused by an alteration in the bacterial phagocytic system. Clinically, it is described as single or multiple tumors that can appear in any part of the body. Histologically, the presence of Michaelis-Gutmann bodies is pathognomonic. Malakoplakia in children is rare. Few pediatric cases in the urinary tract, kidney, or gastrointestinal tract have been published. We present a case of urinary and gastrointestinal malakoplakia in a 12-year-old girl.
    Full-text Article · Jan 2009 · Urology
  • Ofelia Cruz · Noelia Perez · Eva Rodriguez · [...] · Jaume Mora
    Conference Paper · Dec 2008
  • M. Sunol · O. Cruz · E. Rodriguez · [...] · J. Mora
    Conference Paper · Dec 2008
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    [Show abstract] [Hide abstract] ABSTRACT: Gene expression profiling of NBTs with different ploidy status. List of differentially expressed genes identified applying different multiple testing corrections. Differentially expressed genes are displayed according to tumour ploidy and chromosomal location. A. List of 6 differentially expressed genes [FDR P < 0,01]; B. List of 12 differentially expressed genes [SDP P < 0,1]; C. List of 51 differentially expressed genes [FDR P < 0,05];.D. List of 254 differentially expressed genes [FDR P < 0,1].
    Full-text Dataset · Aug 2008
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    [Show abstract] [Hide abstract] ABSTRACT: Clinicobiological characteristics of all patients studied. Dx: specimen at diagnosis; rel: specimen at relapse. Primary Tumour: ABD: abdomen; ADR: adrenal gland; ABD+T: abdominal and mediastinal; RP: retroperitoneal. Metastasis: L: liver; MD-LN: Mediastinal lymph nodes; PL: pleural; T: testicular; PS: paraspinal; BM: bone marrow; B: bone; SKN: skin; Br: Brain. Age: at Diagnosis in months. Tx: therapy; * cases included in gene expression analysis; ** one dose of doxorubicin and cyclophosphamide; *** one cycle of carboplatin/VP-16 and 450 cGy to the liver; N5-7: MSKCC protocols; CCG and POG: prior CCG or POG protocols before arriving at MSKCC. -: no chromosomal alteration,LOH: loss of heterozygosity; +: chromosome arm 17q gain; Status: D: dead; A: alive. F/u: follow-up in months.
    Full-text Dataset · Aug 2008
  • Ramon Navarro · Astrid Laguna · Noelia Perez · [...] · Ofelia Cruz
    Conference Paper · Jun 2008
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    [Show abstract] [Hide abstract] ABSTRACT: Neuroblastic tumours (NBTs) represent a heterogeneous spectrum of neoplastic diseases associated with multiple genetic alterations. Structural and numerical chromosomal changes are frequent and are predictive parameters of NBTs outcome. We performed a comparative analysis of the biological entities constituted by NBTs with different ploidy status. Gene expression profiling of 49 diagnostic primary NBTs with ploidy data was performed using oligonucleotide microarray. Further analyses using Quantitative Real-Time Polymerase Chain Reaction (Q-PCR); array-Comparative Genomic Hybridization (aCGH); and Fluorescent in situ Hybridization (FISH) were performed to investigate the correlation between aneuploidy, chromosomal changes and gene expression profiles. Gene expression profiling of 49 primary near-triploid and near-diploid/tetraploid NBTs revealed distinct expression profiles associated with each NBT subgroup. A statistically significant portion of genes mapped to 1p36 (P = 0.01) and 17p13-q21 (P < 0.0001), described as recurrently altered in NBTs. Over 90% of these genes showed higher expression in near-triploid NBTs and the majority are involved in cell differentiation pathways. Specific chromosomal abnormalities observed in NBTs, 1p loss, 17q and whole chromosome 17 gains, were reflected in the gene expression profiles. Comparison between gene copy number and expression levels suggests that differential expression might be only partly dependent on gene copy number. Intratumoural clonal heterogeneity was observed in all NBTs, with marked interclonal variability in near-diploid/tetraploid tumours. NBTs with different cellular DNA content display distinct transcriptional profiles with a significant portion of differentially expressed genes mapping to specific chromosomal regions known to be associated with outcome. Furthermore, our results demonstrate that these specific genetic abnormalities are highly heterogeneous in all NBTs, and suggest that NBTs with different ploidy status may result from different mechanisms of aneuploidy driving tumourigenesis.
    Full-text Article · Feb 2008 · BMC Medical Genomics
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    [Show abstract] [Hide abstract] ABSTRACT: We describe a patient with a novel WT1 pS50X germ line mutation, who developed bilateral Wilms tumours, both with stromal-type histology. Both tumours showed loss of the wild type WT1 allele (loss of heterozygosity (LOH)) and a tumour specific mutation in catenin beta1 (CTNNB1), S45P in the left and Delta45S in the right tumour. Molecular analysis of microdissected cells from the left tumour revealed the same S45P CTNNB1 mutation in blastema, tubuli, stroma and muscle, and a different CTNNB1 mutation (T41A) in stromal cells isolated from another area of the same slide. Microdissection of two areas of muscle cells from the right tumour revealed the same Delta45S mutation and no CTNNB1 mutation nor LOH of WT1 in normal kidney cells. One year later, the patient developed a new set of bilateral tumours. Both tumours showed LOH of the wild type WT1 allele, but different CTNNB1 mutations as in the first tumours: S45C on the right and S45F on the left side, demonstrating that these developed independently and are not relapses. This case demonstrates the high risk for the development of Wilms tumours in patients with germ line truncation mutations.
    Full-text Article · Jul 2007 · Journal of Medical Genetics