This project is a retrospective observational study based on the molecular characterization of a Spanish population of patients with refractory radio-iodine differentiated thyroid cancer (DTC) and medullary thyroid carcinoma (MTC) with advanced and / or metastatic disease undergoing systemic treatment, or under clinical observation. Three diagnostic techniques will be performed on formalin-fixed paraffin embedded (FFPE) tumor samples from the study population: immunohistochemistry (IHC), fluorescence by in situ hybridization (FISH) as well as Next-Generation Sequencing (NGS) techniques by means of DNA and RNA analysis (Ion Platform Torrent - Oncomine Focus Assay, 52 gene detection). The results of each patient will be compared in order to correlate the results of each method.
Immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) techniques will be carried out to identify NTRK and RET alterations. NTRK alterations will be identified using IHC techniques (NTRK over-expression), and FISH techniques (break-apart method). RET alterations will also be identified using the FISH technique (break-apart method). At the same time, DNA and RNA will be extracted for sequencing techniques using the Oncomine Focus Assay platform, including 52 genes (35 Hotspot genes, 19 Copy number variants and 23 Gene fusions, including NTRK and RET).
Study Type
OBSERVATIONAL
Enrollment
150
VENTANA pan-TRK technique (EPR17341) Assay, with Optiview DAB-detection kit and Optiview amplification kit. Using FFPE slices
FISH using FFPE slices for genes: Neurotrophic tyrosin kinase 1 (NTRK1), Neurotrophic tyrosin kinase 3 (NTRK3) and rearranged during transfection (RET)
Oncomine Focus Assay Platform with 52 genes (35 Hotspot genes, 19 Copy number variants and 23 Gene fusions). Using FFPE slices
Hospital Universitario Vall d'Hebron
Barcelona, Barcelona, Spain
Hospital Clínic de Barcelona
Barcelona, Barcelona, Spain
Hospital Universitario Durán i Reinals
L'Hospitalet de Llobregat, Barcelona, Spain
Fundació Althaia
Manresa, Barcelona, Spain
Consorci Corporació Sanitària Parc Taulí de Sabadell
Sabadell, Barcelona, Spain
Hospital universitario Marqués de Valdecilla
Santander, Cantabria, Spain
Institut Català d'Oncologia Girona - ICO Girona
Girona, Girona, Spain
Hospital Universitario Ramón y Cajal
Madrid, Madrid, Spain
Hospital Universitario La Paz
Madrid, Madrid, Spain
Hospital General Universitario de Valencia
Valencia, Valencia, Spain
...and 2 more locations
Progression free survival (PFS)
Time from start of data capture (retrospectively) to progression disease. Patients may be stratified in subgroups attending to their histologic subtype and molecular genetic profile.
Time frame: Throughout the study. Approximately 2 years
Overall survival (OS)
Time from start of data capture (retrospectively) to death. Patients may be stratified in subgroups attending to their histologic subtype and molecular genetic profile.
Time frame: Throughout the study. Approximately 2 years
Objective response rate
Response to systemic treatments received if available. Patients may be stratified in subgroups attending to their histologic subtype and molecular genetic profile.
Time frame: Throughout the study. Approximately 2 years
Prevalence of genetic alterations
Frequency of genetic alterations in the study population determined by the molecular genetic interventions: IHC, FISH and NGS
Time frame: Throughout the study. Approximately 2 years
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