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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.
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.
摘要：
背景：林奇综合征（LS）是一种遗传性疾病，其结直肠癌和其他恶性肿瘤的风险增加。LS患者中很少有甲状腺癌的报道。这项研究的目的是调查LS患者中甲状腺结节的存在，并探讨其与疾病遗传特征的关系。
方法：进行了回顾性和描述性分析，以包括在FondazionePoliclinico大学A.GemelliIRCCS的CEMAD（CentroMalattieApparatoDigerute）随访的所有LS患者。LS病的特点，基因突变,和以前的甲状腺疾病史进行评估。大多数患者接受甲状腺超声检查（美国），必要时进行结节细胞学检查。
结果：共139例LS患者，110名患者被纳入研究。共有103例(74%)患者接受了甲状腺超声检查,7例患者(5%)既往有甲状腺疾病史(癌症或多结节性甲状腺肿).平均年龄为51.9岁。在接受US治疗的62例患者（60％）中发现了甲状腺结节，其中9人(14%)有可疑的恶性肿瘤特征，诱导细针穿刺活检。细胞学分析将9例中的7例（78％）分为TIR2，2例（22％）分为TIR3a。结节性甲状腺疾病患者之间（单个结节，多结节性甲状腺肿,和癌症），他们中的大多数(25名患者，总数的36％）是MSH6突变的携带者，而22（32%），17（24%），和5（7％）有MSH2，MLH1和PMS2突变，分别。
结论：在LS患者中发现甲状腺结节的患病率很高，尤其是携带MSH6的患者。建议进行至少一次甲状腺超声检查，以检测LS患者的结节性甲状腺疾病。需要进行系统的调查以估计其患病率，特点,和恶性转化的风险。
方法：进行了回顾性和描述性分析，以包括在FondazionePoliclinico大学A.GemelliIRCCS的CEMAD（CentroMalattieApparatoDigerute）随访的所有LS患者。LS病的特点，基因突变,和以前的甲状腺疾病史进行评估。大多数患者接受甲状腺超声检查（美国），必要时进行结节细胞学检查。
结果：共139例LS患者，110名患者被纳入研究。共有103例(74%)患者接受了甲状腺超声检查,7例患者(5%)既往有甲状腺疾病史(癌症或多结节性甲状腺肿).平均年龄为51.9岁。在接受US治疗的62例患者（60％）中发现了甲状腺结节，其中9人(14%)有可疑的恶性肿瘤特征，诱导细针穿刺活检。细胞学分析将9例中的7例（78％）分为TIR2，2例（22％）分为TIR3a。结节性甲状腺疾病患者之间（单个结节，多结节性甲状腺肿,和癌症），他们中的大多数(25名患者，总数的36％）是MSH6突变的携带者，而22（32%），17（24%），和5（7％）有MSH2，MLH1和PMS2突变，分别。
结论：在LS患者中发现甲状腺结节的患病率很高，尤其是携带MSH6的患者。建议进行至少一次甲状腺超声检查，以检测LS患者的结节性甲状腺疾病。需要进行系统的调查以估计其患病率，特点,和恶性转化的风险。
