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Hereditary tumor syndromes associated with thyroid nodules or differentiated thyroid cancer

Hereditary tumor syndromes associated with thyroid nodules or differentiated thyroid cancer
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)
  • APC (5q21-q22)
  • 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)
  • DTC (PTC and FTC)
 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)
APC: adenomatous polyposis coli; FAP: familial adenomatous polyposis; PTC: papillary thyroid cancer; PRKAR1A: protein kinase A regulatory 1-alpha subunit gene; CNC2: Carney complex type 2; DTC: differentiated thyroid cancer; FTC: follicular thyroid cancer; PPNAD: primary pigmented nodular adrenocortical disease; PTEN: phosphatase and tensin homolog; WRN: Werner syndrome gene (RECQ protein-like 2).
* 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.
¶ A form of Carney complex (type 2) has been mapped to a locus on 2p16, but the specific gene has not been identified.
Δ Refer to UpToDate content on primary pulmonary blastoma and related table.
Adapted with permission from: Francis GL, Waguespack SG, Bauer AJ, et al. Management Guidelines for Children with Thyroid Nodules and Differentiated Thyroid Cancer. Thyroid 2015; 25:716. Copyright © 2015 Mary Ann Liebert. The publisher for this copyrighted material is Mary Ann Liebert, Inc. publishers.
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