Lynch Syndrome and Thyroid Nodules: A Single Center Experience

Area of Science:

• Genetics
• Oncology
• Endocrinology

Background:

• Lynch syndrome (LS) increases cancer risk but has limited reported thyroid cancer cases.
• Investigating thyroid nodules in LS patients is crucial due to potential malignancy risk.

Purpose of the Study:

• To determine the prevalence of thyroid nodules in Lynch syndrome patients.
• To explore the association between thyroid nodules and specific genetic mutations in LS.

Main Methods:

• Retrospective analysis of 110 Lynch syndrome patients.
• Evaluation of LS disease characteristics, gene mutations, and thyroid history.
• Thyroid ultrasound and fine-needle aspiration biopsy for nodule assessment.

Main Results:

• Thyroid nodules detected in 60% of patients undergoing ultrasound.
• MSH6 mutation carriers showed the highest prevalence of nodular thyroid disease (36%).
• Suspicious nodules requiring biopsy were found in 14% of those with nodules.

Conclusions:

• High prevalence of thyroid nodules in LS patients, especially MSH6 carriers.
• Thyroid ultrasound screening is recommended for LS patients.
• Further research is needed on nodule features and malignant transformation risk.