Table 8 Hereditary syndromes associated with thyroid cancers of follicular cell origin
From: Genetic susceptibility to hereditary non-medullary thyroid cancer
Name | Mode of Inheritance | Responsible gene | Chromosome | Thyroid cancer histological subtype | Phenotypes other than thyroid cancer |
|---|---|---|---|---|---|
FAP and Gardner’s syndrome | Autosomal dominant | APC | 5q21 | PTC with cribriform pattern | Colorectal carcinoma, ampullary carcinoma, hepatoblastoma, medulloblastoma |
Cowden Syndrome | Autosomal dominant | PTEN, SDHB-D, PIK3CA, AKT1,KLLN,SEC23B | 10q22–23 1p36.13 3q26.32 14q32.33 10q23.31 20p11.23 | PTC (classical and follicular variants) FTC | Multiple hamartomas, follicular thyroid carcinoma, benign thyroid nodules, breast cancer, endometrial cancer |
Werner syndrome | Autosomal recessive | WRN | 8p11–21 | PTC, FTC, ATC (anaplastic thyroid carcinoma) | Premature aging, scleroderma-like skin changes, cataracts, subcutaneous calcifications, muscular atrophy, diabetes |
Carney complex | Autosomal dominant | PRKAR1 | 17q22–24 | PTC, FTC | Spotty skin pigmentation, cardiac myxomas, endocrine tumours |
DICER1 syndrome | Autosomal dominant | DICER1 | 14q32.13 | PTC, DTC | Endocrine tumours (thyroid, parathyroid, pituitary, pineal gland, endocrine pancreas, paragangliomas, medullary, adrenocortical, ovarian, and testicular tumours |
Pendred syndrome | Autosomal recessive | SLC26A4, FOXI1, KCNJ10 | 7q21–34 | PTC, FTC, ATC | Sensorineural deafness/hearing impairment, goiter, and an abnormal organification of iodide with or without hypothyroidism |
Ataxia-telangiectasia | autosomal recessive | ATM | 11q22–23 | PTC | Cerebellar degeneration, telangiectasia, immunodeficiency, recurrent sinopulmonary infections, radiation sensitivity, premature aging, lymphoid cancer, poor growth, gonadal atrophy, insulin resistant diabetes |
Bannayan-Riley- Ruvalcaba syndrome | autosomal dominant | PTEN | 10q23.3 | PTC, FTC | Macrocephaly, hamartomatous tissue overgrowth, lipomas, pigmented macules on the penis, developmental delay, large birth weight, joint hyperextensibility, endometrial cancer, renal cell carcinoma, Lhermitte–Duclos disease |
Peutz-Jeghers syndrome | Autosomal dominant | STK11 | Â | PTC, DTC | Gastrointestinal (GI) polyposis, mucocutaneous pigmented macules, breast cancer, uterine cancer, cervical cancer, lung cancer, ovarian cancer, testicular cancers |
PTEN hamartoma tumour syndrome | autosomal dominant | PTEN | 10q23.31 | FTC, PTC, fvPTC, MNG | Breast cancer, Endometrial cancer, FTC, Gastrointestinal hamartomas, Lhermitte-Duclos disease, Macrocephaly, Macular pigmentation of the glans penis, Multiple mucocutaneous lesions, Autism spectrum disorder, Colon cancer, Esophageal glycogenic acanthosis, Lipomas, Mental retardation, Renal cell carcinoma, Testicular lipomatosis, PTC, fvPTC, thyroid adenoma, MNG |
Li-Fraumeni syndrome | Autosomal dominant | TP53 | 17p13.1 | cPTC, FVPTC | Adrenocortical carcinomas, breast cancer, central nervous system tumours, osteosarcomas, soft-tissue sarcomas, leukemia, lymphoma, gastrointestinal cancers, cancers of head and neck, kidney, larynx, lung, skin, ovary, pancreas, prostate, and testis |