0000000000435943

AUTHOR

Petra B. Musholt

showing 3 related works from this author

Detection of RET rearrangements in papillary thyroid carcinoma using RT-PCR and FISH techniques - A molecular and clinical analysis.

2019

Abstract Introduction Oncogenic BRAF and RAS mutations as well as multiple known (and yet unknown) RET fusion oncogenes comprise the majority of causative molecular alterations in papillary thyroid carcinoma (PTC). Apparently “mutation-negative” PTCs encompass a heterogenous group impeding analysis of prognostic significance of underlying genetics. Material and methods BRAF wild type PTC tissue of 56 patients was analyzed using two established methods: hybrid-specific RT-PCR for the predominant rearrangement RET/PTC1 and fluorescent in situ hybridization (FISH). Clinical features of the cases with and without RET rearrangement were compared (patient age, gender, tumor size, focality, lymph …

0301 basic medicineAdultMaleProto-Oncogene Proteins B-rafmedicine.medical_specialtyendocrine system diseasesIn situ hybridizationThyroid carcinomaIodine Radioisotopes03 medical and health sciences0302 clinical medicinemedicineHumansAvidityOncogene FusionThyroid NeoplasmsLymph nodeIn Situ Hybridization FluorescenceAgedRET/PTC RearrangementGene RearrangementClinical pathologybusiness.industryReverse Transcriptase Polymerase Chain ReactionProto-Oncogene Proteins c-retGeneral MedicineMiddle AgedTumor BurdenReverse transcription polymerase chain reaction030104 developmental biologymedicine.anatomical_structureReal-time polymerase chain reactionOncologyThyroid Cancer Papillary030220 oncology & carcinogenesisCancer researchSurgeryFemaleLymph NodesbusinessEuropean journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology
researchProduct

Identification of Differentially Expressed Genes in Papillary Thyroid Carcinomas With and Without Rearrangements of the Tyrosine Kinase Receptors RET…

2005

Background The transforming capacities of RET and/or NTRK1 chimeric oncogenes as well as the molecular background of non-rearranged papillary thyroid carcinomas (PTCs) remain to be elucidated. To assess altered gene expression, we examined PTCs with and without tyrosine kinase receptor rearrangements by mRNA differential display (DD). Materials and methods Six of 13 PTCs examined harbored RET chimeras (3× RET/PTC1, 1× RET/PTC3) and/or NTRK1 chimeras (2× trk, 1× TRK-T3, 2 unknown TRK hybrids). The method of DD analysis was refined by a novel fragment-recovery technique using a high-performance fluorescence scanner. Results Of 500 up- or down-regulated mRNA transcripts, 19 selected fragments …

AdultMaleAdolescentendocrine system diseasesDown-RegulationBiologyReceptor tyrosine kinaseGene expressionHumansThyroid NeoplasmsReceptor trkAGeneAgedCell ProliferationGene RearrangementRegulation of gene expressionGene Expression ProfilingProto-Oncogene Proteins c-retGene rearrangementMiddle AgedCarcinoma PapillaryUp-RegulationGene Expression Regulation NeoplasticGene expression profilingTumor progressionTrk receptorDisease ProgressionCancer researchbiology.proteinFemaleSurgeryJournal of Surgical Research
researchProduct

Congenital primary hypothyroidism with subsequent adenomatous goiter in a Turkish patient caused by a homozygous 10-bp deletion in the thyroid peroxi…

2006

Summary Objective  Congenital primary hypothyroidism occurs in 1 of 4000 births. Whereas the majority of the cases are due to developmental defects of the thyroid gland, 20% carry a defect in thyroid hormonogenesis. We report a Turkish boy who had goitrous hypothyroidism due to a mutation in the thyroid peroxidase (TPO) gene. Design  The TPO gene was sequenced directly from genomic DNA and cDNA which was transcribed from three RNA samples harvested from different parts of the patient's excised thyroid gland. Patient  The boy was thyroidectomized because of continuing growth of his thyroid gland and development of multiple nodes suspected of malignancy by ultrasound examination. Histopatholo…

AdenomaMaleThyroid Hormonesendocrine systemmedicine.medical_specialtyPathologyGoiterAdolescentTurkeyendocrine system diseasesEndocrinology Diabetes and Metabolismmedicine.medical_treatmentThyroid Function TestsBiologyIodide PeroxidaseThyroid function testsFrameshift mutationConsanguinityEndocrinologyThyroid peroxidaseInternal medicineCongenital HypothyroidismmedicineHumansIntracellular partmedicine.diagnostic_testHomozygoteThyroidThyroidectomyPrimary hypothyroidismmedicine.diseasePedigreeThyroxinemedicine.anatomical_structureEndocrinologyThyroidectomybiology.proteinGene DeletionGoiter NodularClinical Endocrinology
researchProduct