Table 1.

Familial Syndromes Associated With Thyroid Cancer.5,6

Familial Syndrome Clinical Characteristics Inheritance Pattern Involved Gene Thyroid Cancer
Multiple endocrine neoplasia (MEN) 2A and 2B 2A: MTC, pheochromocytoma, primary hyperparathyroidism
2B: MTC, pheochromocytoma, neurofibromatosis
Autosomal dominant RET proto-oncogene MTC
Familial medullary thyroid cancer Isolated medullary thyroid cancer Autosomal dominant RET proto-oncogene MTC
McCune Albright syndrome Precocious puberty, polyostotic fibrous dysplasia, café-au-lait spots Mosaic GNAS1 FC
Familial adenomatous polyposis (FAP) Intestinal adenomatous polyps Autosomal dominant APC tumor suppressor gene PTC
Gardner syndrome Variant of FAP, with addition of desmoid tumors, ostomas Autosomal dominant APC tumor suppressor gene PTC
Carney complex Hyperpigmentation of mucosa, schwannomas, pituitary and testicular tumors Autosomal dominant PRKARI PTC
Cowden syndrome Hamartomas of multiple organs Autosomal dominant PTEN tumor suppressor gene FC
Werner syndrome DM, cataracts, muscle atrophy, premature aging Autosomal dominant WRN FC, PTC
* DM, diabetes mellitus; FC, follicular thyroid cancer; MTC, medullary thyroid cancer; PTC, papillary thyroid cancer
RMMJ Rambam Maimonides Medical Journal Rambam Health Care Campus 2014 April; 5(2): e0008. ISSN: 2076-9172
Published online 2014 April 28. doi: 10.5041/RMMJ.10142