Abstract
Thyroid cancer may have a familial predisposition but a specific germline alteration responsible for the disease has not been discovered yet. We have shown that familial papillary thyroid cancer (FPTC) patients have an imbalance in telomere-telomerase complex with short telomeres and increased telomerase activity. A germline mutation (A339V) in thyroid transcription factor-1 has been described in patients with multinodular goiter and papillary thyroid cancer. In this report, the presence of the A339V mutation and the telomere length has been studied in FPTC patients and unaffected family members. All samples analyzed displayed a pattern typical of the homozygous wild type revealing the absence of the A339V mutation. Shortening of telomeres was confirmed in all patients. We concluded that the A339V mutation in thyroid transcription factor-1 (TITF-1/NKX2.1) is not correlated with the familial form of PTC, even when the tumor was in the context of multinodular goiter.
Highlights
Thyroid cancer may have a familial predisposition but a specific germline alteration responsible for the disease has not been discovered yet
Ngan et al demonstrated the presence of a new germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter
The mutation was dominantly inherited in two families with members bearing MNG/PTC [9]. In light of these evidences, we investigated the presence of A339V mutation in patients with the occurrence of familial papillary thyroid cancer (FPTC) and short telomeres
Summary
Thyroid cancer may have a familial predisposition but a specific germline alteration responsible for the disease has not been discovered yet. Findings Familial non-medullary thyroid cancer (FNMTC), most frequently of papillary hystotype (FPTC), recurs in two or more members of the same family in about 10% of the patients. Ngan et al demonstrated the presence of a new germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter
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