Table 4.
Hereditary Tumor Syndromes Associated with Thyroid Nodules/Differentiated Thyroid Cancer
| Hereditary syndromea | Gene (chromosomal location) | Type of thyroid neoplasia |
|---|---|---|
| APC-associated polyposis (familial adenomatous polyposis [FAP], attenuated FAP, Gardner syndrome, and Turcot syndrome) | • APC (5q21-q22) | • PTC (cribriform-morular variant) |
| Carney complex | • PRKAR1A (17q24.2) • “CNC2” (2p16) |
• Multinodular goiter • Follicular adenomas • DTC (PTC and FTC) |
| DICER1 Syndrome | • DICER1 (14q32.13) | • Multinodular goiter • DTC (due to second somatic mutation in DICER1, possibly related to treatment of pleuropulmonary blastoma) |
| PTEN hamartoma tumor syndrome (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) | • PTEN (10q23) | • Multinodular goiter • Follicular adenomas • DTC (FTC overrepresented) |
| Werner syndrome | • WRN (8p12) | • DTC (PTC and FTC) |
a
Although DTC has also been reported to occur in patients with Beckwith–Wiedemann syndrome, the familial paraganglioma syndromes, Li–Fraumeni Syndrome, McCune–Albright syndrome, and Peutz–Jeghers syndrome, it remains unclear if these tumors are a direct result of the underlying genetic defect.