Research Topic

Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Clinical and Genetic Update

About this Research Topic

Non medullary thyroid cancers (NMTC) originate from the follicular cells of the thyroid gland and account for over 90% of all thyroid cancers. About 3-10% of the NMTCs are of familial origin, and familial NMTC (FNMTC) is defined as two or more affected first-degree relatives with ...

Non medullary thyroid cancers (NMTC) originate from the follicular cells of the thyroid gland and account for over 90% of all thyroid cancers. About 3-10% of the NMTCs are of familial origin, and familial NMTC (FNMTC) is defined as two or more affected first-degree relatives with NMTC.

Clinicopathological correlations have resulted in the further subclassification of FNMTCs into two groups. FNMTC may occur as a minor component of syndromic familial cancer syndromes (Gardner and Cowden syndrome, Carney complex type 1, Werner and DICER1 syndromes) or as a non-syndromic familial disease.

The majority of FNMTC cases is non-syndromic with unknown susceptibility gene(s) and defined as two or more first-degree relatives affected with NMTC.

The clinical characteristics of FNMTC are controversial. Some, but not all, authors have reported an earlier age of onset, higher incidence of multifocality and lymph node metastasis, and a more aggressive outcome with more frequent relapses, compared with sporadic disease. Interestingly, FNMTC might be more aggressive, with higher thyroid cancer–specific mortality, in families with three or more members affected by FNMTC compared to families with two members affected.

The hereditary factors contributing to the unfavorable course of FNMTC remain poorly understood. FNMTC cases are characterized by high genetic heterogeneity (molecular heterogeneity), making it difficult to identify key molecular changes. Moreover, polygenic inheritance is also plausible, particularly in those cases where only two family members are affected. Given the fairly frequent occurrence of NMTC, a definitive diagnosis of FNMTC must be made with caution, particularly in families where only two members are affected. In conclusion, the results obtained to date do not allow any clear determination of the impact of the changes in a particular gene as a key factor in the development and prognosis of PTC. Further research is warranted to fully characterize the pathogenesis of PTC and the genetic contribution to this disease.

This Research Topic will explore the following topics in the form of Clinical Trial, Original Research, Review, Min-Review, and Systematic Review articles:

• Epidemiological aspects of FNMTC
• Clinical and pathological findings of patients with FNMTC
• The genetic landscape of non-syndromic FNMTC
• FNMTC studies focus on families with 3 or more affected members
• Identification of molecular predictors of disease aggressiveness


Keywords: familial non-medullary thyroid carcinoma, familial thyroid carcinoma, susceptibility genes, oncogenic mutations


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Submission Deadlines

05 July 2020 Manuscript
04 August 2020 Manuscript Extension

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Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

05 July 2020 Manuscript
04 August 2020 Manuscript Extension

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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