17
Hereditary Tumor Syndromes
Table 4. Hereditary Tumor Syndromes Associated with
Thyroid Nodules/DTC
Syndrome
Gene
(Chromosomal
Location)
Type(s) of Thyroid
Neoplasia
APC-Associated
Polyposis (familial
adenomatous polyposis
[FAP], attenuated FAP,
Gardner syndrome, &
Turcot syndrome)
APC (5q21-q22) PTC (cribriform-morular
variant)
Carney Complex • PRKAR1A (17q24.2)
• "CNC2" (2p16)
• Multinodular goiter
• Follicular adenomas
• DTC (PTC & 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, & Proteus-like
syndrome)
PTEN (10q23) • Multinodular goiter
• Follicular adenomas
• DTC (FTC
overrepresented)
Werner syndrome WRN (8p12) DTC (PTC and FTC)
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.
