{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T10:47:44Z","timestamp":1776077264086,"version":"3.50.1"},"reference-count":48,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,1,17]],"date-time":"2023-01-17T00:00:00Z","timestamp":1673913600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>The incidence of thyroid cancer has increased worldwide. Ecuador presents the highest incidence among Latin American countries and the second around the world. Genetic alteration is the driving force for thyroid tumorigenesis and progression. The change from valine (V) to glutamic acid (E) at codon 600 of the BRAF gene (BRAF<jats:sup>Val600Glu<\/jats:sup>) is the most commonly reported mutation in thyroid cancer. Moreover, the BRAF mutation is not the only mutation that has been correlated with TC. For instance, mutations and overexpression of the KIT gene has been associated with different types of cancer, including lung and colon cancer, and neuroblastoma.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>A woman in her early fifties, self-identified as mestizo, from Otavalo, Imbabura-Ecuador had no systemic diseases and denied allergies, but she had a family history of a benign thyroid nodule. Physical examination revealed a thyroid gland enlargement. The fine-needle aspiration biopsy indicated papillary thyroid cancer. The patient underwent a successful total thyroidectomy with an excellent recovery and no additional treatments after surgery. Using Next-Generation sequencing a heterozygous mutation in the BRAF gene, causing an amino acid change Val600Glu was identified. Similarly, in the KIT gene, a heterozygous mutation resulting in an amino acid change Leu678Phe was detected. Moreover, an ancestry analysis was performed, and the results showed 3.1% African, 20.9% European, and 76% Native American ancestry.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This report represents the genetic characteristics of papillary thyroid cancer in an Ecuadorian woman with a mainly Native American ethnic component. Further studies of pathological variants are needed to determine if the combined demographic and molecular profiles are useful to develop targeted treatments focused on the Ecuadorian population.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fonc.2022.1101530","type":"journal-article","created":{"date-parts":[[2023,1,17]],"date-time":"2023-01-17T06:10:25Z","timestamp":1673935825000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":6,"title":["Identification of KIT and BRAF mutations in thyroid tissue using next-generation sequencing in an Ecuadorian patient: A case report"],"prefix":"10.3389","volume":"12","author":[{"given":"Santiago","family":"Cadena-Ullauri","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elius","family":"Paz-Cruz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafael","family":"Tamayo-Trujillo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Guevara-Ram\u00edrez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viviana","family":"Ruiz-Pozo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Solis-Pazmino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristhian","family":"Garcia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Godoy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eddy","family":"Lincango-Naranjo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Karina","family":"Zambrano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2023,1,17]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.30699\/ijp.13.2.125","article-title":"A review of driver genetic alterations in thyroid cancers","volume":"13","author":"Khatami","year":"2018","journal-title":"Iran J Pathol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12885-020-07137-0","article-title":"Thyroid cancer in Ecuador","volume":"20","author":"L\u00f3pez Gavilanez","year":"2020","journal-title":"BMC Cancer"},{"key":"B3","doi-asserted-by":"publisher","first-page":"1","DOI":"10.32457\/ijmss.v8i2.1347","article-title":"Differentiated thyroid cancer clinical trends in Quito, Ecuador","volume":"8","author":"Pacheco-Ojeda","year":"2021","journal-title":"Int J Med Surg Sci"},{"key":"B4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3390\/cancers12082164","article-title":"Molecular markers guiding thyroid cancer management","volume":"12","author":"Nyl\u00e9n","year":"2020","journal-title":"Cancers (Basel)"},{"key":"B5","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1016\/j.ecl.2018.10.006","article-title":"Management of papillary thyroid microcarcinoma","volume":"48","author":"Brito","year":"2019","journal-title":"Endocrinol Metab Clin North Am"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s40463-021-00543-9","article-title":"BRAF V600E mutation is associated with aggressive features in papillary thyroid carcinomas \u2264 1.5 cm","volume":"50","author":"Silver","year":"2021","journal-title":"J Otolaryngol - Head Neck Surg"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1530\/EC-21-0410","article-title":"BRAF V600E mutation in papillary thyroid carcinoma: its relation to clinical features and oncologic outcomes in a single cancer centre experience","volume":"10","author":"Al-Masri","year":"2021","journal-title":"Endocr Connect"},{"key":"B8","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1371\/journal.pone.0173913","article-title":"Loss of c-KIT expression in thyroid cancer cells","volume":"12","author":"Franceschi","year":"2017","journal-title":"PloS One"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2015.05.042","article-title":"KIT signaling promotes growth of colon xenograft tumors in mice and is upregulated in a subset of human colon cancers","volume":"149","author":"Chen","year":"2015","journal-title":"Gastroenterology"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.3892\/or.2016.4963","article-title":"Amyloid precursor protein cooperates with c-KIT mutation\/overexpression to regulate cell apoptosis in AML1-ETO-positive leukemia via the PI3K\/AKT signaling pathway","volume":"36","author":"Yu","year":"2016","journal-title":"Oncol Rep"},{"key":"B11","first-page":"1","volume-title":"Treatment of thyroid cancer by type and stage","year":"2021"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btt607","article-title":"Protter: Interactive protein feature visualization and integration with experimental proteomic data","volume":"30","author":"Omasits","year":"2014","journal-title":"Bioinformatics"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0029684","article-title":"Straightforward inference of ancestry and admixture proportions through ancestry-informative insertion deletion multiplexing","volume":"7","author":"Pereira","year":"2012","journal-title":"PLoS One"},{"key":"B14","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41598-019-45723-w","article-title":"The three-hybrid genetic composition of an Ecuadorian population using AIMs-InDels compared with autosomes, mitochondrial DNA and y chromosome data","volume":"9","author":"Zambrano","year":"2019","journal-title":"Sci Rep"},{"key":"B15","unstructured":"Age-standardized rate (Ecuador) per 100 000, incidence, males and females thyroid2022"},{"key":"B16","doi-asserted-by":"publisher","first-page":"35","DOI":"10.25100\/cm.v49i1.3785","article-title":"Trends in cancer incidence and mortality over three decades in Quito-Ecuador","volume":"49","author":"Cordero","year":"2018","journal-title":"Colomb Med"},{"key":"B17","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12885-019-5485-8","article-title":"Thyroid cancer in Ecuador, a 16 years population-based analysis (2001-2016)","volume":"19","author":"Salazar-Vega","year":"2019","journal-title":"BMC Cancer"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2013.3190","article-title":"Association between BRAF V600E mutation and mortality in patients with papillary thyroid cancer","volume":"309","author":"Xing","year":"2013","journal-title":"JAMA - J Am Med Assoc"},{"key":"B19","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12885-020-07735-y","article-title":"Thyroid cancer overdiagnosis and overtreatment: a cross- sectional study at a thyroid cancer referral center in Ecuador","volume":"21","author":"Solis-Pazmino","year":"2021","journal-title":"BMC Cancer"},{"key":"B20","doi-asserted-by":"publisher","first-page":"1","DOI":"10.5402\/2012\/384707","article-title":"Sociodemographic predictors of survival in differentiated thyroid cancer: Results from the SEER database","volume":"2012","author":"Johnston","year":"2012","journal-title":"ISRN Endocrinol"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2018.29065.abstracts","article-title":"High prevalence of BRAFV600E mutation in patients with papillary thyroid cancer from Northern Ecuadorian andes","volume":"28","author":"Solis-Pazmino","year":"2018","journal-title":"Am Thyroid Assoc"},{"key":"B22","doi-asserted-by":"publisher","first-page":"97","DOI":"10.20945\/2359-3997000000120","article-title":"Association between BRAF (V600E) mutation and clinicopathological features of papillary thyroid carcinoma: A brazilian single-centre case series","volume":"63","author":"Pess\u00f4a-Pereira","year":"2019","journal-title":"Arch Endocrinol Metab"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.21037\/gs-20-430","article-title":"Prevalence of BRAFV600E mutation in Asian series of papillary thyroid carcinoma\u2013a contemporary systematic review","volume":"9","author":"Rashid","year":"2020","journal-title":"Gland Surg"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2018.78.5097","article-title":"BRAF V600E confers male sex disease-specific mortality risk in patients with papillary thyroid cancer","volume":"36","author":"Wang","year":"2018","journal-title":"J Clin Oncol"},{"key":"B25","doi-asserted-by":"publisher","DOI":"10.1155\/2013\/965212","article-title":"Worldwide increasing incidence of thyroid cancer: Update on epidemiology and risk factors","volume":"2013","author":"Pellegriti","year":"2013","journal-title":"J Cancer Epidemiol"},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2016.3288","article-title":"Mortality risk stratification by combining BRAF V600E and TERT promoter mutations in papillary thyroid cancer genetic duet of BRAF and TERT promoter mutations in thyroid cancer mortality","volume":"3","author":"Liu","year":"2017","journal-title":"JAMA Oncol"},{"key":"B27","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1007\/s12022-011-9184-5","article-title":"BRAFV600E mutation in papillary thyroid carcinoma: Significant association with node metastases and extra thyroidal invasion","volume":"23","author":"Chakraborty","year":"2012","journal-title":"Endocr Pathol"},{"key":"B28","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1097\/CCO.0000000000000148","article-title":"The changing epidemiology of thyroid cancer: Why is incidence increasing","volume":"27","author":"Vigneri","year":"2015","journal-title":"Curr Opin Oncol"},{"key":"B29","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.22635","article-title":"Increased cancer incidence after radioiodine treatment for hyperthyroidism","volume":"109","author":"Metso","year":"2007","journal-title":"Cancer"},{"key":"B30","doi-asserted-by":"publisher","DOI":"10.1245\/s10434-013-2892-y","article-title":"The acceleration in papillary thyroid cancer incidence rates is similar among racial and ethnic groups in the united states","volume":"20","author":"Aschebrook-Kilfoy","year":"2013","journal-title":"Ann Surg Oncol"},{"key":"B31","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13058-018-1085-9","article-title":"Identification of novel common breast cancer risk variants at the 6q25 locus among latinas 06 biological sciences","volume":"21","author":"Hoffman","year":"2019","journal-title":"Breast Cancer Res"},{"key":"B32","doi-asserted-by":"publisher","DOI":"10.1530\/EC-19-0376","article-title":"BRAF and TERT mutations in papillary thyroid cancer patients of Latino ancestry","volume":"8","author":"Estrada-Fl\u00f3rez","year":"2019","journal-title":"Endocr Connect"},{"key":"B33","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms6260","article-title":"Genome-wide association study of breast cancer in latinas identifies novel protective variants on 6q25","volume":"5","author":"Fejerman","year":"2014","journal-title":"Nat Commun"},{"key":"B34","doi-asserted-by":"publisher","DOI":"10.2147\/TCRM.S105023","article-title":"Papillary thyroid carcinoma risk factors in the yunnan plateau of southwestern China","volume":"12","author":"Zeng","year":"2016","journal-title":"Ther Clin Risk Manage"},{"key":"B35","doi-asserted-by":"publisher","DOI":"10.1016\/j.fct.2020.111778","article-title":"Dietary habits and thyroid cancer risk: A hospital-based case\u2013control study in Sicily (South Italy)","volume":"146","author":"Fiore","year":"2020","journal-title":"Food Chem Toxicol"},{"key":"B36","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2014.29.8.1054","article-title":"Clinicopathological features of rare BRAF mutations in korean thyroid cancer patients","volume":"29","author":"Cho","year":"2014","journal-title":"J Korean Med Sci"},{"key":"B37","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1155\/2022\/6562149","article-title":"The prognostic implication of the BRAF V600E mutation in papillary thyroid cancer in a Chinese population","volume":"2022","author":"Ye","year":"2022","journal-title":"Int J Endocrinol"},{"key":"B38","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1677\/ERC-07-0212","article-title":"BRAF(V600E) mutation and the biology of papillary thyroid cancer","volume":"15","author":"Frasca","year":"2008","journal-title":"Endocr Relat Cancer"},{"key":"B39","first-page":":96-108","article-title":"The MAPK (ERK) pathway: Investigational combinations for the treatment of BRAF- mutated metastatic melanoma","volume":"38","author":"McCain","year":"2013","journal-title":"P T"},{"key":"B40","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-2104","article-title":"BRAF V600E mutation and its association with clinicopathological features of papillary thyroid cancer: A meta-analysis","volume":"97","author":"Li","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"B41","first-page":"1","volume-title":"Dabrafenib \u2013 trametinib braf combination approved for solid tumors with BRAF mutations","year":"2022"},{"key":"B42","doi-asserted-by":"publisher","DOI":"10.1016\/j.jprot.2016.05.019","article-title":"Oncogenic KIT mutations in different exons lead to specific changes in melanocyte phospho-proteome","volume":"144","author":"Sanlorenzo","year":"2016","journal-title":"J Proteomics"},{"key":"B43","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2013.0610","article-title":"RET\/PTC, or BRAF mutations in advanced stage of papillary thyroid carcinoma","volume":"24","author":"Zou","year":"2014","journal-title":"Thyroid"},{"key":"B44","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1089\/thy.2013.0235","article-title":"Concomitant BRAF(V600E) mutation and RET\/PTC rearrangement is a frequent occurrence in papillary thyroid carcinoma","author":"Guerra","year":"2014","journal-title":"Thyroid"},{"key":"B45","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.42.723","article-title":"C-kit proto-oncogene is more likely to lose expression in differentiated thyroid carcinoma than three thyroid-specific genes: Thyroid peroxidase, thyroglobulin, and thyroid stimulating hormone receptor","volume":"42","author":"Tanaka","year":"1995","journal-title":"Endocr J"},{"key":"B46","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/1479-5876-10-7","article-title":"C-KIT receptor expression is strictly associated with the biological behaviour of thyroid nodules","volume":"10","author":"Tomei","year":"2012","journal-title":"J Transl Med"},{"key":"B47","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/1471-2156-14-6","article-title":"Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations","volume":"14","author":"Chin","year":"2013","journal-title":"BMC Genet"},{"key":"B48","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/nmeth.1527","article-title":"Limitations of next generation genome sequence assembly","volume":"8","author":"Alkan","year":"2011","journal-title":"Nat Methods"}],"container-title":["Frontiers in Oncology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2022.1101530\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,17]],"date-time":"2023-01-17T06:10:35Z","timestamp":1673935835000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2022.1101530\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,17]]},"references-count":48,"alternative-id":["10.3389\/fonc.2022.1101530"],"URL":"https:\/\/doi.org\/10.3389\/fonc.2022.1101530","relation":{},"ISSN":["2234-943X"],"issn-type":[{"value":"2234-943X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1,17]]},"article-number":"1101530"}}