Alexandria Brumfield, Sara Abou Azar, Rachel Nordgren, Ronald N Cohen, David Sarne, Xavier M Keutgen, Megan Applewhite, Peter Angelos, Nicole A Cipriani
{"title":"Prevalence and Clinical Impact of BRAF p.V600E Mutation in Papillary Thyroid Carcinoma.","authors":"Alexandria Brumfield, Sara Abou Azar, Rachel Nordgren, Ronald N Cohen, David Sarne, Xavier M Keutgen, Megan Applewhite, Peter Angelos, Nicole A Cipriani","doi":"10.1007/s12022-025-09859-y","DOIUrl":null,"url":null,"abstract":"<p><p>Identifying risk factors in papillary thyroid carcinoma (PTC) that warrant more aggressive treatment is paramount. Importantly, the prevalence and clinical significance of BRAF p.V600E mutation in PTC remain debatable. This study aims to determine the association of BRAF p.V600E with demographic and clinicopathologic characteristics, including recurrence. Single institution data from consecutive PTC patients with BRAF p.V600E immunohistochemistry and/or molecular testing was collected between 2018 and 2022, including BRAF status, morphologic subtype, TN category, tumor size, nodal disease burden, tumor multifocality, extrathyroidal extension, treatment, follow-up time, loco-regional and distant recurrence, and mortality. This study included 301 patients, 30% male. The majority had BRAF p.V600E mutation (78.7%), and BRAF p.V600E was associated with morphologic subtype (p < 0.001), with 88% of classic subtype PTCs, 38% of PTCs with extensive follicular growth, and 100% of tall cell subtype expressing BRAF p.V600E. BRAF p.V600E was not associated with tumor size (p = 0.696) or nodal disease burden (p = 0.962). On multivariate analysis using Cox proportional hazard model, large volume nodal disease burden (HR 3.37, 95%CI 1.49-7.64, p = 0.004) and male gender (HR 2.29, 95%CI 1.23-4.26, p = 0.009) were significantly associated with recurrence. BRAF p.V600E (HR 0.71, 95% CI 0.31-1.65, p = 0.4) was not significantly associated with recurrence. In conclusion, presence of BRAF p.V600E in the absence of high risk histologic features does not have an impact on PTC recurrence, and thus, its utility in risk stratification is questionable in the setting of other clinicopathologic risk factors.</p>","PeriodicalId":55167,"journal":{"name":"Endocrine Pathology","volume":"36 1","pages":"13"},"PeriodicalIF":11.3000,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12003545/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Endocrine Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s12022-025-09859-y","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 0
Abstract
Identifying risk factors in papillary thyroid carcinoma (PTC) that warrant more aggressive treatment is paramount. Importantly, the prevalence and clinical significance of BRAF p.V600E mutation in PTC remain debatable. This study aims to determine the association of BRAF p.V600E with demographic and clinicopathologic characteristics, including recurrence. Single institution data from consecutive PTC patients with BRAF p.V600E immunohistochemistry and/or molecular testing was collected between 2018 and 2022, including BRAF status, morphologic subtype, TN category, tumor size, nodal disease burden, tumor multifocality, extrathyroidal extension, treatment, follow-up time, loco-regional and distant recurrence, and mortality. This study included 301 patients, 30% male. The majority had BRAF p.V600E mutation (78.7%), and BRAF p.V600E was associated with morphologic subtype (p < 0.001), with 88% of classic subtype PTCs, 38% of PTCs with extensive follicular growth, and 100% of tall cell subtype expressing BRAF p.V600E. BRAF p.V600E was not associated with tumor size (p = 0.696) or nodal disease burden (p = 0.962). On multivariate analysis using Cox proportional hazard model, large volume nodal disease burden (HR 3.37, 95%CI 1.49-7.64, p = 0.004) and male gender (HR 2.29, 95%CI 1.23-4.26, p = 0.009) were significantly associated with recurrence. BRAF p.V600E (HR 0.71, 95% CI 0.31-1.65, p = 0.4) was not significantly associated with recurrence. In conclusion, presence of BRAF p.V600E in the absence of high risk histologic features does not have an impact on PTC recurrence, and thus, its utility in risk stratification is questionable in the setting of other clinicopathologic risk factors.
确定甲状腺乳头状癌(PTC)的危险因素,保证更积极的治疗是至关重要的。重要的是,BRAF p.V600E突变在PTC中的患病率和临床意义仍有争议。本研究旨在确定BRAF p.V600E与人口学和临床病理特征(包括复发)的关系。收集2018年至2022年间连续PTC BRAF p.V600E免疫组化和/或分子检测患者的单机构数据,包括BRAF状态、形态学亚型、TN类别、肿瘤大小、淋巴结疾病负担、肿瘤多灶性、甲状腺外扩展、治疗、随访时间、局部区域和远处复发、死亡率。本研究纳入301例患者,其中30%为男性。BRAF p. v600e突变占多数(78.7%),且BRAF p. v600e与形态学亚型相关(p
期刊介绍:
Endocrine Pathology publishes original articles on clinical and basic aspects of endocrine disorders. Work with animals or in vitro techniques is acceptable if it is relevant to human normal or abnormal endocrinology. Manuscripts will be considered for publication in the form of original articles, case reports, clinical case presentations, reviews, and descriptions of techniques. Submission of a paper implies that it reports unpublished work, except in abstract form, and is not being submitted simultaneously to another publication. Accepted manuscripts become the sole property of Endocrine Pathology and may not be published elsewhere without written consent from the publisher. All articles are subject to review by experienced referees. The Editors and Editorial Board judge manuscripts suitable for publication, and decisions by the Editors are final.