0000000000275922

AUTHOR

Pascual Bolufer

showing 4 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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Epidermal growth factor receptor in human breast cancer: Correlation with cytosolic and nuclear ER receptors and with biological and histological tum…

1990

Epidermal growth factor receptor (EGFr) and cytosolic (cER) and nuclear (nER) estradiol receptors were quantified in 220 primary breast cancers. The EGFr was significantly more frequent (chi 2 = 5.9; P less than 0.025) and its concentration was significantly higher (P less than 0.001) among ER- tumors than in ER+ tumors. There was a significantly greater proportion (chi 2 = 6.4; P less than 0.05) of node involvement in EGFr+/ER+ tumors than in EFGr-/ER+. Increases in the proportion of EGFr+ in ER- tumors are parallel to Scarff-Bloom scores (chi 2 = 6.1; P less than 0.05) and there is a significant trend (Spearman rs = 0.25; P less than 0.05) towards increased EGFr concentrations with histol…

Adultmedicine.medical_specialtyBreast NeoplasmsReceptors EstradiolCorrelationCytosolEpidermal growth factorInternal medicinemedicineHumansEpidermal growth factor receptorReceptorAgedAged 80 and overCell NucleusbiologyCancerMiddle Agedmedicine.diseasePathophysiologyErbB ReceptorsCytosolCarcinoma Intraductal NoninfiltratingEndocrinologyOncologybiology.proteinHuman breastEuropean Journal of Cancer and Clinical Oncology
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Role of MTHFR (677, 1298) haplotype in the risk of developing secondary leukemia after treatment of breast cancer and hematological malignancies

2007

Therapy-related myelodysplasia and acute myeloid leukemia (t-MDS/AML) is a malignancy occurring after exposure to chemotherapy and/or radiotherapy. Polymorphisms involved in chemotherapy/radiotherapy response genes could be related to an increased risk of developing this neoplasia. We have studied 11 polymorphisms in genes of drug detoxification pathways (NQO1, glutathione S-transferase pi) and DNA repair xeroderma pigmentosum, complementation group (3) (XPC(3), X-ray repair cross complementing protein (1)), Nijmegen breakage syndrome (1), excision repair cross-complementing rodent repair deficiency, complementation group (5) and X-ray repair cross complementing protein (3) and in the methy…

OncologyCancer Researchmedicine.medical_specialtyXeroderma pigmentosumAntineoplastic AgentsBreast NeoplasmsSingle-nucleotide polymorphismPolymorphism Single NucleotideBreast cancerRisk Factorshemic and lymphatic diseasesInternal medicinemedicineHumansMethylenetetrahydrofolate Reductase (NADPH2)Leukemiabiologybusiness.industryHaplotypeMyeloid leukemiaNeoplasms Second PrimaryHematologyMiddle Agedmedicine.diseaseHaplotypesOncologyCase-Control StudiesHematologic NeoplasmsMethylenetetrahydrofolate reductaseImmunologybiology.proteinbusinessNijmegen breakage syndromeNucleotide excision repairLeukemia
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Variant Three-Way Translocation of Inversion 16 in AML-M4Eo Confirmed by Fluorescence In Situ Hybridization Analysis

1999

The inv(16) and t(16;16) characterize a subgroup of acute myelomonocytic leukemia (AML) with distinct morphological features and a favorable prognosis. Both cytogenetic abnormalities result in a fusion of CBF beta at 16q22 and MYH11 gene at 16p13, whose detection by PCR and fluorescence in situ hybridization (FISH) is useful for diagnosis and monitoring of the disease. Variant translocations of inv(16)/t(16;16) are very rare and whether they are also associated with a favorable prognosis is unknown. We report a patient presenting with typical AML-M4Eo and a three-way translocation of inv(16) involving 16p13, 16q22, and 3q22. FISH studies on bone marrow (BM) chromosomes using CBFB and MYH11 …

AdultMaleCancer ResearchChromosomal translocationBiologyLeukemia Myelomonocytic AcuteTranslocation GeneticChromosome 16GeneticsmedicineHumansMolecular BiologyIn Situ Hybridization FluorescenceChromosomal inversionmedicine.diagnostic_testReverse Transcriptase Polymerase Chain ReactionHybridization probemedicine.diseaseMolecular biologyEosinophilsLeukemiaFusion transcriptChromosome InversionAcute myelomonocytic leukemiaFemaleChromosomes Human Pair 16Fluorescence in situ hybridizationCancer Genetics and Cytogenetics
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