Gabora Katalin, Bălăcescu Ovidiu, Trifa Adrian, Morariu Ana Maria, Pop Bogdan, Vişan Simona, Fetica Bogdan, Piciu Andra, Piciu Doina
Doctoral School of the Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Department of Functional Genomics, Proteomics and Experimental Pathology, "Prof. Dr. Ion Chiricuță" Institute of Oncology, Cluj-Napoca, Romania.
Med Pharm Rep. 2022 Jul;95(3):275-281. doi: 10.15386/mpr-2346. Epub 2022 Jul 26.
Thyroid carcinoma is the most frequent endocrine malignancy. It develops following a complex interaction of environmental and genetic factors. Its incidence is on the rise mostly due to the frequent diagnosis of microcarcinomas (tumor <1 cm). In most cases, it has very good prognosis and survival rates. The incidence of a second primary malignancy in thyroid cancer patients is higher than in the general population. In this article, we focus on the role of BRAF V600E mutation in the development of other primary neoplasms associated with thyroid carcinoma.
This study was conducted in the department of Nuclear Medicine and Genetics of the "Prof. Dr. Ion Chiricuță" Institute of Oncology of Cluj-Napoca. We evaluated patients with thyroid carcinoma, who were diagnosed and treated for other malignancies such as breast, colorectal, lung cancer and malignant melanoma. In addition, we tested for the BRAF V600E mutation using paraffin samples of patients.
We identified 17 patients that had thyroid carcinoma associated with other primary malignancies. Two of the patients included in the study had three associated primary cancers. The time interval between the diagnoses of two primary neoplasms in the same patient was 6.15 years, with a standard deviation (SD) of 5.39 years. The most common primary tumor associated with thyroid carcinoma in this study was breast cancer. We applied genetic testing for the BRAF V600E mutation in 12 patients. The BRAF V600E mutation positivity rate was 26.9% and most of the cancer associations were metachronous (occurring at least 6 months after thyroid cancer).
The BRAF V600E mutation is an important prognostic factor in the neoplasms included in this study, but its presence is not a predictive factor for the appearance of a metachronous or synchronous associated primary neoplasm to thyroid cancer.
甲状腺癌是最常见的内分泌系统恶性肿瘤。它是在环境因素和遗传因素复杂的相互作用下发展形成的。其发病率上升主要归因于微癌（肿瘤<1cm）的频繁诊断。在大多数情况下，它的预后和生存率非常好。甲状腺癌患者发生第二原发性恶性肿瘤的几率高于普通人群。在本文中，我们重点关注BRAF V600E突变在与甲状腺癌相关的其他原发性肿瘤发生过程中的作用。
本研究在克卢日-纳波卡市“伊昂·基里库察教授”肿瘤研究所的核医学与遗传学部门开展。我们评估了被诊断并接受过其他恶性肿瘤（如乳腺癌、结直肠癌、肺癌和恶性黑色素瘤）治疗的甲状腺癌患者。此外，我们使用患者的石蜡样本检测BRAF V600E突变。
我们确定了17例患有与其他原发性恶性肿瘤相关的甲状腺癌患者。研究纳入的患者中有2例伴有三种相关原发性癌症。同一患者的两种原发性肿瘤诊断之间的时间间隔为6.15年，标准差（SD）为5.39年。本研究中与甲状腺癌相关的最常见原发性肿瘤是乳腺癌。我们对12例患者进行了BRAF V600E突变的基因检测。BRAF V600E突变阳性率为26.9%，且大多数癌症关联是异时性的（发生在甲状腺癌至少6个月之后）。
BRAF V600E突变是本研究中所涉及肿瘤的一个重要预后因素，但其存在并非甲状腺癌异时性或同时性相关原发性肿瘤出现的预测因素。
