Lynch Syndrome and Thyroid Nodules: A Single Center Experience

Author:

Spinelli Irene1ORCID,Moffa Simona2,Fianchi Francesca1,Mezza Teresa2,Cinti Francesca2ORCID,Di Giuseppe Gianfranco2ORCID,Marmo Clelia3,Ianiro Gianluca1,Ponziani Francesca Romana1ORCID,Tortora Annalisa4,Riccioni Maria Elena3,Giaccari Andrea2,Gasbarrini Antonio1ORCID

Affiliation:

1. Centro Malattie Apparato Digerente (CEMAD), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy

2. Centro per le Malattie Endocrine e Metaboliche, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy

3. Endoscopia Digestiva Chirurgica, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy

4. Gastroenterologia B, Azienda Ospedaliera Universitaria Integrata Verona, 37126 Verona, Italy

Abstract

Background: Lynch syndrome (LS) is a genetic disease with increased risk of colorectal cancer and other malignancies. There are few reported cases of thyroid cancer in LS patients. The aim of this study is to investigate the presence of thyroid nodules in LS patients and to explore their association with the genetic features of the disease. Methods: A retrospective and descriptive analysis was conducted to include all LS patients followed at the CEMAD (Centro Malattie Apparato Digerente) of Fondazione Policlinico Universitario A. Gemelli IRCCS. The characteristics of LS disease, gene mutations, and previous history of thyroid disease were evaluated. Majority of patients underwent thyroid ultrasound (US), and nodule cytology was performed when needed. Results: Of a total of 139 patients with LS, 110 patients were included in the study. A total of 103 patients (74%) underwent thyroid ultrasound examinations, and 7 patients (5%) had a previous history of thyroid disease (cancer or multinodular goiter). The mean age was 51.9 years. Thyroid nodules were found in 62 patients (60%) who underwent US, and 9 of them (14%) had suspicious features of malignancy, inducing a fine-needle aspiration biopsy. A cytologic analysis classified 7 of 9 cases (78%) as TIR2 and 2 (22%) as TIR3a. Between patients with nodular thyroid disease (single nodule, multinodular goiter, and cancer), most of them (25 patients, 36% of total) were carriers of the MSH6 mutation, while 22 (32%), 17 (24%), and 5 (7%) had MSH2, MLH1, and PMS2 mutations, respectively. Conclusions: A high prevalence of thyroid nodules was found in patients with LS, especially in MSH6-carrying patients. Performing at least one thyroid ultrasound examination is suggested for the detection of nodular thyroid disease in LS patients. Systematic investigations are needed to estimate their prevalence, features, and risk of malignant transformation.

Publisher

MDPI AG

Reference27 articles.

1. Diagnosis and management of Lynch syndrome;Edwards;Frontline Gastroenterol.,2022

2. (2024, March 21). NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Genetic/Familial High-Risk Assessment: Colorectal Version 2.2023—30 October 2023. Available online: https://www.nccn.org/profile?ReturnURL=https%3a%2f%2fwww.nccn.org%2fprofessionals%2fphysician_gls%2fpdf%2fgenetics_colon.pdf.

3. (2024, March 21). InSiGHT: Colon Cancer Gene Variant Database. Available online: https://www.insight-group.org/syndromes/lynch-syndrome/.

4. American College of Gastroenterology. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes;Syngal;Am. J. Gastroenterol.,2015

5. Papillary thyroid carcinoma as first and isolated neoplastic disease in a Lynch syndrome family member with a germline MLH1 mutation;Verrienti;Endocrine,2022

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3