Hereditary syndrome* | Gene (chromosomal location) | Type of thyroid neoplasia | Other clinical features |
APC-associated polyposis (familial adenomatous polyposis [FAP], attenuated FAP, Gardner syndrome, and Turcot syndrome) (MIM #175100) | | - PTC (cribriform-morular variant)
| - Colorectal polyps (adenomas) and carcinoma
- Upper gastrointestinal polyps and carcinoma
- Hepatoblastoma
- Osteomas
- Dental anomalies
- Retinal abnormalities
- Soft-tissue tumors (epidermoid cysts, fibromas)
- Desmoid tumors
- Adrenal masses (primarily adrenocortical adenomas)
|
Carney complex (MIM #160980) | | - Multinodular goiter
- Follicular adenomas
- DTC (PTC and FTC)
| - Spotty skin pigmentation (on lips, conjunctiva, vaginal and penile mucosa)
- Endocrine tumors (including PPNAD, Sertoli cell tumors, and GH-secreting adenomas)
- Nonendocrine tumors (cardiac, subcutaneous, or breast myxomas; schwannomas and others)
|
DICER1 syndromeΔ (MIM #138800; MIM #601200) | | - Multinodular goiter
- DTC (FTC overrepresented)
| - Macrocephaly
- Pleuropulmonary blastoma
- Cystic nephroma
- Wilms tumor
- Pineoblastoma
- Various other tumors (urinary tract, blood, gonads [Sertoli-Leydig and ovarian], others)Δ
|
PTEN hamartoma tumor syndrome (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) (MIM #158350) | | - Multinodular goiter
- DTC (FTC overrepresented)
| - Macrocephaly
- Autism or developmental delay
- Penile freckling or other benign skin lesions
- Arteriovenous malformations or hemangiomas
- Gastrointestinal polyps
|
Werner syndrome (MIM #277700) | | | Features of premature aging: - Premature graying and thinning of hair; skin atrophy
- Cataracts
- Osteoporosis
- Premature atherosclerosis
- Predisposition to a variety of benign and malignant neoplasms (osteosarcoma, soft tissue tumors, and melanoma)
|