Table 1.
Genetic alterations in syndromes related to non-medullary thyroid cancer (NMTC).
| Syndrome | Gene | Inheritance Pattern | Other Malignant Tumors | Prevalent Types of Thyroid Tumors | Benign Manifestations | Reference |
|---|---|---|---|---|---|---|
| Ataxia-telangiectasia syndrome * | ATM | AR * | Lymphocytic leukemia, lymphoma, stomach adenocarcinoma, medulloblastoma, glioma | FTC, PTC • | degenerative cerebellar atrophy, telangiectasias, immune defects | [15] |
| ATM | AD | breast cancer, digestive tract cancer, lymphoma, leukemia | [15,16] | |||
| Carney complex | PRKAR1A | AD | - | Follicular hyperplasia, nodular hyperplasia, FA, cystic changes, PTC, FTC | Spotty skin pigmentation (lips, conjunctiva, vaginal, and penile mucosa), cutaneous and mucosal myxoma, cardiac myxoma, breast myxomatosis, primary pigmented nodular adrenocortical disease, GH-producing adenoma, large cell calcifying Sertoli cell tumors, psammomatous melanotic schwannomas | [17] |
| Cowden syndrome | PTEN, SDHB-D, SEC23B, KLLN, PARP4, AKT1, PIK3CA, USF3, TTN, RASAL1 | AD | FTC, breast cancer, epithelial endometrial cancer, colon cancer, renal cell carcinoma melanoma | MNG, Hashimoto thyroiditis, FA, FTC, cPTC, FVPTC, C-cell hyperplasia | Macrocephaly | [18,19] |
| DICER1 syndrome | DICER1 | AD | Pleuropulmonary blastoma, ovarian Sertoli-Leydig cell tumor, genitourinary and cerebral sarcomas | MNG, PTC, FA | MNG, cystic nephroma | [20,21] |
| Familial adenomatous polyposis | APC | AD | Digestive tract cancers, fibrosarcomas | CMVPTC, PTC | Intestinal polyps, osteomas, fibromas, desmoid tumors, dental abnormalities, leiomyomas, congenital hypertrophy of the retinal pigment epithelium | [22,23] |
| Li-Fraumeni syndrome | TP53 | AD | Breast, brain, and adreno cortical cancers and sarcomas | cPTC, FVPTC | [13,24] | |
| Werner syndrome | WRN | AR | Atypical melanoma, bone, or soft tissue sarcomas | FTC, PTC, ATC | Aging, bilateral cataract, type 2 diabetes mellitus, hypogonadism, meningioma | [2,25] |
* Ataxia-telangiectasia syndrome occurs only in autosomal recessive pattern. However, heterozygotic carriers have an increased risk to cancer radio ionizing-induced. • An increased risk for thyroid cancer was observed in relatives of A-T patients, but the histological type was not specified in those epidemiological analysis. The above information is inferred from susceptibility thyroid cancer studies [26,27].