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Molecular and clinical analysis of papillary thyroid carcinoma

Laufzeit: 01.01.2018 - 31.12.2025

Kurzfassung


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). In the field of gene fusions driving tumorigenesis in papillary thyroid carcinoma (PTC), rearrangement of the proto-oncogene RET is the most frequent alteration. Apart from the most common rearrangement of RET to CCDC6, more than 15 partner genes are yet reported. The landscape of RET rearrangements in...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). In the field of gene fusions driving tumorigenesis in papillary thyroid carcinoma (PTC), rearrangement of the proto-oncogene RET is the most frequent alteration. Apart from the most common rearrangement of RET to CCDC6, more than 15 partner genes are yet reported. The landscape of RET rearrangements in PTC ("RET-PTC") can notably be enlarged by modern targeted next-generation sequencing, indicating similarities between oncogenic pathways in other cancer types with identical genetic alterations. Further research is required to improve an individualized approach to papillary thyroid carcinoma according to the underlying genetics (RET/PTC, RAS, BRAF). 
 1. Targeted next-generation sequencing is performed for BRAF-wild type PTC with confirmation of the results by Sanger sequencing.
2. BRAF and RAS status are analyzed using conventional PCR
3. A "UniProt" and „Pfam“ database research is performed to assess protein alterations resulting from specific molecular alterations, e.g.. RET rearrangements.
4. Postoperative clinical outcome (patient age, gender, tumor size, focality, lymph node affection, and iodine avidity) is analyzed for distinct mutational profiles.
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