Thyroid Cancer Screening and Management in Adopted Patients with Family History

Initial Assessment and History Gathering

The American College of Medical Genetics and Genomics recommends determining the type of thyroid cancer affected the biological family members to guide testing approach 3, 4
The National Comprehensive Cancer Network suggests considering the number of affected first-degree relatives, age at diagnosis, and ethnicity when assessing the risk of thyroid cancer 3, 4, 5
The American Thyroid Association recommends inquiring about any known genetic testing results in biological relatives to inform testing decisions 3, 4

The American Thyroid Association recommends immediate referral for genetic counseling and RET genetic testing if the family history suggests MTC 1, 6
The Endocrine Society suggests that RET proto-oncogene testing should be performed, as germline RET mutations cause Multiple Endocrine Neoplasia type 2 (MEN2A, MEN2B) and familial MTC 2
The National Comprehensive Cancer Network recommends screening for pheochromocytoma (plasma metanephrines) before any intervention, as 50% of MEN2 patients develop pheochromocytomas 2
The American Association of Clinical Endocrinologists recommends screening for hyperparathyroidism (calcium, PTH) as 20-30% of MEN2A patients develop this 2

The American College of Medical Genetics and Genomics recommends evaluating for familial cancer syndromes that include thyroid cancer, such as Cowden syndrome (PTEN mutation) and familial adenomatous polyposis (APC mutation) 1, 6
The National Comprehensive Cancer Network suggests considering thyroid ultrasound screening for individuals with a family history of NMTC, particularly those with three or more affected family members 1

The American College of Medical Genetics and Genomics recommends referring for cancer predisposition assessment if there is any medullary thyroid cancer in the family history, or if there is non-medullary thyroid cancer plus one additional Carney complex criterion or two additional Cowden syndrome criteria 1, 6