Identification of KIT and BRAF mutations in thyroid tissue using next-generation sequencing in an Ecuadorian patient: A case report

• DOI: 10.3389/fonc.2022.1101530
• Publication Date: 2023-01-17T06:10:25Z
• Authors: Santiago Cadena-U...; Elius Paz-Cruz; Rafael Tamayo-Tru...; Patricia Guevara-...; Viviana Ruiz-Pozo; Paola Solis-Pazmino; Cristhian Garcia; Richard Godoy; Eddy Lincango-Nar...; Ana Karina Zambrano
• Keywords: Thyroid Nodules

The incidence of thyroid cancer has increased worldwide. Ecuador presents the highest among Latin American countries and second around world. Genetic alteration is driving force for tumorigenesis progression. change from valine (V) to glutamic acid (E) at codon 600 BRAF gene (BRAFVal600Glu) most commonly reported mutation in cancer. Moreover, not only that been correlated with TC. For instance, mutations overexpression KIT associated different types cancer, including lung colon neuroblastoma.A woman her early fifties, self-identified as mestizo, Otavalo, Imbabura-Ecuador had no systemic diseases denied allergies, but she a family history benign nodule. Physical examination revealed gland enlargement. fine-needle aspiration biopsy indicated papillary patient underwent successful total thyroidectomy an excellent recovery additional treatments after surgery. Using Next-Generation sequencing heterozygous gene, causing amino Val600Glu was identified. Similarly, resulting Leu678Phe detected. ancestry analysis performed, results showed 3.1% African, 20.9% European, 76% Native ancestry.This report represents genetic characteristics Ecuadorian mainly ethnic component. Further studies pathological variants are needed determine if combined demographic molecular profiles useful develop targeted focused on population.