ArticleCold Spring Harbor molecular case studies2016
Putative BRAF activating fusion in a medullary thyroid cancer.
Article in Cold Spring Harbor molecular case studies, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 16 citations in OpenAlex.
- Kinase Fusion-Related Thyroid Carcinomas: Towards Predictive Models for Advanced Actionable Diagnostics.Endocrine pathology · 2022Review
- Integrated proteogenomic characterization of medullary thyroid carcinoma.Cell discovery · 2022Article
- Kinase fusion-related thyroid carcinomas: distinct pathologic entities with evolving diagnostic implications.Diagnostic histopathology (Oxford, England) · 2021Article
- A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer.Case reports in endocrinology · 2020Article
- Evaluating vandetanib in the treatment of medullary thyroid cancer: patient-reported outcomes.Cancer management and research · 2019Article
- Somatic cancer variant curation and harmonization through consensus minimum variant level data.Genome medicine · 2016Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Medullary thyroid cancer (MTC) is a malignancy of the calcitonin-producing parafollicular cells of the thyroid gland. Surgery is the only curative treatment for this cancer. External beam radiation therapy is reserved for adjuvant treatment of MTC with aggressive features. Targeted therapeutics vandetanib and cabozantinib are approved for the treatment of aggressive and metastatic tumors that are not amenable to surgery. The use of these multikinase inhibitors are supported by the observed overactivation of the RET oncoprotein in a large subpopulation of MTCs. However, not all patients carry oncogenic alterations of this kinase. Hence, there is still a need for comprehensive molecular characterization of MTC utilizing whole-genome and transcriptome-sequencing methodologies with the aim of identifying targetable mutations. Here, we describe the genomic profiles of two medullary thyroid cancers and report the presence of a putative oncogenic BRAF fusion in one. Such alterations, previously observed in other malignancies and known targets of available drugs, can benefit patients who currently have no treatment options.
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