0000000000275926

AUTHOR

Sandra Dolz

showing 3 related works from this author

WT1 isoform expression pattern in acute myeloid leukemia.

2013

WT1 plays a dual role in leukemia development, probably due to an imbalance in the expression of the 4 main WT1 isoforms. We quantify their expression and evaluate them in a series of AML patients. Our data showed a predominant expression of isoform D in AML, although in a lower quantity than in normal CD34+ cells. We found a positive correlation between the total WT1 expression and A, B and C isoforms. The overexpression of WT1 in AML might be due to a relative increase in A, B and C isoforms, together with a relative decrease in isoform D expression.

Gene isoformAdultMalecongenital hereditary and neonatal diseases and abnormalitiesCancer ResearchAdolescentCD34HL-60 CellsBiologyurologic and male genital diseasesPositive correlationCohort StudiesYoung AdultDual roleExpression patternhemic and lymphatic diseasesmedicineTumor Cells CulturedHumansProtein IsoformsWT1 ProteinsAgedAged 80 and overurogenital systemGene Expression Regulation LeukemicGene Expression ProfilingMyeloid leukemiaHematologyMiddle Agedmedicine.diseaseMolecular biologyfemale genital diseases and pregnancy complicationsLeukemiaLeukemia Myeloid AcuteOncologyCase-Control StudiesFemaleK562 CellsLeukemia research
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Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia

2014

Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), but additional chromosomal abnormalities (ACA) and other rearrangements can contribute in the development of the whole leukemic phenotype. We hypothesized that some ACA not detected by conventional techniques may be informative of the onset of APL. We performed the high-resolution SNP array (SNP-A) 6.0 (Affymetrix) in 48 patients diagnosed with APL on matched diagnosis and remission sample. Forty-six abnormalities were found as an acquired event in 23 patients (48%): 22 duplications, 23 deletions and 1 Copy-Neutral Loss of Heterozygocity (CN-LOH), being a duplication of 8(q24) (23%) and a deletion of 7(q33-qter) (…

AdultMaleAcute promyelocytic leukemiamedicine.medical_specialtyAdolescentOncogene Proteins FusionMicroarrayslcsh:MedicineLoss of HeterozygosityChromosomal translocationBiologyResearch and Analysis MethodsPolymorphism Single NucleotideTranslocation GeneticHematologic Cancers and Related DisordersLoss of heterozygosityYoung AdultLeukemia Promyelocytic AcuteLeukemiasGene duplicationMedicine and Health SciencesmedicineHumanslcsh:ScienceAgedChromosome AberrationsChromosomes Human Pair 15Multidisciplinarylcsh:RBreakpointCytogeneticsBiology and Life SciencesComputational BiologyHematologyMiddle AgedPrognosismedicine.diseaseMolecular biologyLeukemiaBioassays and Physiological AnalysisKaryotypingCancer researchlcsh:QFemaleResearch ArticleChromosomes Human Pair 17SNP arrayPLoS ONE
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Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care

2021

Knowledge about genetic predisposition to pediatric cancer is constantly expanding. The categorization and clinical management of the best-known syndromes has been refined over the years. Meanwhile, new genes for pediatric cancer susceptibility are discovered every year. Our current work shares the results of genetically studying the germline of 170 pediatric patients diagnosed with cancer. Patients were prospectively recruited and studied using a custom panel, OncoNano V2. The well-categorized predisposing syndromes incidence was 9.4%. Likely pathogenic variants for predisposition to the patient’s tumor were identified in an additional 5.9% of cases. Additionally, a high number of pathogen…

Cancer ResearchCàncer en els infantsGenetic counselingBioinformaticsgermlineMedical careArticleDNA sequencingGermlineworking toolGenetic predispositionmedicinegenetic syndromeRC254-282genetic counselingbusiness.industryIncidence (epidemiology)Neoplasms. Tumors. Oncology. Including cancer and carcinogensCancerpediatric oncologymedicine.diseasePediatric cancerOncologyhereditary cancerbusinessgenetic predispositionGenèticaCancers
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