Cadena-Ullauri Santiago, Paz-Cruz Elius, Tamayo-Trujillo Rafael, Guevara-Ramírez Patricia, Ruiz-Pozo Viviana, Solis-Pazmino Paola, Garcia Cristhian, Godoy Richard, Lincango-Naranjo Eddy, Zambrano Ana Karina
Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador.
Surgery Group of Los Angeles, Department of Colorectal Surgery, Los Angeles, CA, United States.
Front Oncol. 2023 Jan 17;12:1101530. doi: 10.3389/fonc.2022.1101530. eCollection 2022.
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) 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.
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.
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.
甲状腺癌的发病率在全球范围内呈上升趋势。厄瓜多尔在拉丁美洲国家中发病率最高，在全球排名第二。基因改变是甲状腺肿瘤发生和发展的驱动力。BRAF基因第600密码子处从缬氨酸（V）到谷氨酸（E）的变化是甲状腺癌中最常报道的突变。此外，BRAF突变并非唯一与甲状腺癌相关的突变。例如，KIT基因的突变和过表达与包括肺癌、结肠癌和神经母细胞瘤在内的不同类型癌症有关。
一名五十出头的女性，自称是混血儿，来自厄瓜多尔伊马布拉省奥塔瓦洛，无全身性疾病，否认过敏史，但有良性甲状腺结节家族史。体格检查发现甲状腺肿大。细针穿刺活检显示为乳头状甲状腺癌。患者成功接受了全甲状腺切除术，术后恢复良好，无需额外治疗。通过下一代测序，在BRAF基因中发现了一个杂合突变，导致氨基酸变化Val600Glu。同样，在KIT基因中，检测到一个导致氨基酸变化Leu678Phe的杂合突变。此外，还进行了血统分析，结果显示有3.1%的非洲血统、20.9%的欧洲血统和76%的美洲原住民血统。
本报告描述了一名以美洲原住民种族成分为主的厄瓜多尔女性乳头状甲状腺癌的基因特征。需要进一步研究病理变异，以确定人口统计学和分子特征的组合是否有助于开发针对厄瓜多尔人群的靶向治疗方法。
