0000000000871870

AUTHOR

Juan C. Tardío

showing 3 related works from this author

Solitary Fibrous Tumor of the Vulva: Report of 2 Cases, Including a De Novo Dedifferentiated Solitary Fibrous Tumor Diagnosed After Molecular Demonst…

2018

Solitary fibrous tumor (SFT) is a neoplasm of fibroblastic lineage that has been documented in almost every anatomic location. Vulval SFT is very rare with only 10 cases reported to date. We present 2 additional SFTs located in the vulva, in adult women of 59 and 25 yr of age. The first showed a classic morphology and immunophenotype with uniform and strong STAT6 nuclear expression. The other one was a spindle-cell de novo dedifferentiated SFT with heterogeneous nuclear and cytoplasmic STAT6 staining, which could only be correctly diagnosed after molecular analysis with demonstration of a NAB2-STAT6 gene fusion. This genetic aberration is considered to represent the major pathogenic driver …

0301 basic medicineAdultPathologymedicine.medical_specialtySolitary fibrous tumorLineage (genetic)Oncogene Proteins FusionBiologyPathology and Forensic MedicineVulvaVulva03 medical and health sciences0302 clinical medicineImmunophenotypingmedicineNeoplasmHumansOncogene FusionDedifferentiated Solitary Fibrous TumorVulvar NeoplasmsObstetrics and GynecologyMiddle Agedmedicine.diseaseRepressor Proteins030104 developmental biologymedicine.anatomical_structure030220 oncology & carcinogenesisSolitary Fibrous TumorsOncogene FusionFemaleDifferential diagnosisSTAT6 Transcription FactorInternational journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists
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Defining Ewing and Ewing-like small round cell tumors (SRCT): The need for molecular techniques in their categorization and differential diagnosis. A…

2016

Abstract Background Differentiation of Ewing sarcoma family of tumors (ESFT) and Ewing-like tumors remains problematic. Certain ESFT with morphological and immunohistochemical (IHC) profiles lack the EWSR1-ETS transcript. To improve diagnostic accuracy we investigated the presence of several specific transcripts in 200 small round cell tumors (SRCT) displaying ESFT morphology and immunophenotype in which EWSR1 FISH analysis was non-informative or negative. Design 200 tumors (formalin-fixed, paraffin-embedded) were analyzed by RT-PCR. All tumors were tested for EWSR1-ETS , EWSR1 / WT1 , PAX3 / 7-FOX01 or SYT / SSX transcripts, and the negative tumors were subsequently analyzed for CIC / DUX4…

0301 basic medicinePathologymedicine.medical_specialtyOncogene Proteins FusionDesmoplastic small-round-cell tumorCD99Sarcoma EwingBiologyTranslocation GeneticPathology and Forensic MedicineDiagnosis DifferentialFusion gene03 medical and health sciences0302 clinical medicineImmunophenotypingBiomarkers TumormedicineHumansPathology MolecularIn Situ Hybridization FluorescenceRNA-Binding ProteinsGeneral Medicinemedicine.diseaseSynovial sarcoma030104 developmental biology030220 oncology & carcinogenesisSarcoma Small CellImmunohistochemistryCalmodulin-Binding ProteinsSarcomaRNA-Binding Protein EWSDifferential diagnosisAnnals of Diagnostic Pathology
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Ewing-like sarcoma with CIC-DUX4 gene fusion in a patient with neurofibromatosis type 1. A hitherto unreported association.

2015

Sarcoma with CIC-DUX4 gene fusion is emerging as the most prevalent subset of Ewing-like undifferentiated small round cell sarcomas with around 50 cases published. We report hereby the case of a 40-year-old male who presented a CIC-DUX4 sarcoma in deep soft tissues in his thigh. He had been diagnosed with neurofibromatosis type 1 at age 19 and over the years underwent resection of multiple neural neoplasms, including two malignant peripheral nerve sheath tumors with classical spindle-cell histopathology. The CIC-DUX4 sarcoma was treated with surgical resection, radiation and chemotherapy, but lung and brain metastases developed and the patient died from the disease 14 months after diagnosis…

AdultMalePathologymedicine.medical_specialtySoft Tissue NeoplasmLung NeoplasmsNeurofibromatosis 1Oncogene Proteins Fusionmedicine.medical_treatmentSoft Tissue NeoplasmsThighBiologyPathology and Forensic MedicineFusion geneFatal OutcomemedicineHumansNeurofibromatosisChemotherapyBrain NeoplasmsSoft tissueCell Biologymedicine.diseasemedicine.anatomical_structureSarcoma Small CellHistopathologySarcomaPathology, research and practice
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