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Syndromic Familial Nonmedullary Thyroid Carcinoma

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  • First Online:
Endocrine Pathology

Part of the book series: Encyclopedia of Pathology ((EP))

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Definition

Thyroid cancers are well recognized to be potentially familial. Approximately 30% of medullaty thyroid carcinomas and 5–10% of nonmedullary (follicular cell-derived) thyroid carcinomas are predisposed by inheritable genetic abnormalities. Unlike familial medullary thyroid carcinomas which are nearly always caused by activating RET gene mutations, cases of familial nonmedullary thyroid carcinoma have shown remarkable clinical and etiologic heterogeneity which can be divided into two groups (Nose 2011): (1) genetic syndromes with predominantly nonthyroid manifestations, and (2) familial nonmedullary thyroid carcinoma (FNMTC) which is defined as two or more first-degree relatives with well-differentiated follicular cell-derived thyroid carcinoma in the absence of an apparent syndromic or environmental cause.

This entry focuses on eight hereditary syndromes, each of which is characterized by a unique constellation of nonthyroid abnormalities while concurrently incurring an...

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Authors and Affiliations

  1. Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA

    Ying-Hsia Chu & Vânia Nosé

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  1. Ying-Hsia Chu
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  2. Vânia Nosé
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Correspondence to Vânia Nosé .

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Editors and Affiliations

  1. University of Insubria, Varese, Italy

    Stefano La Rosa

  2. Department of Medicine and Surgery, Unit of Pathology, University of Insubria, Varese, Italy

    Silvia Uccella

  3. Department of Biomedical Sciences, Humanitas University and Service of Pathology, Humanitas Research Hospital, Milan, Italy

    Silvia Uccella

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Chu, YH., Nosé, V. (2022). Syndromic Familial Nonmedullary Thyroid Carcinoma. In: La Rosa, S., Uccella, S. (eds) Endocrine Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-62345-6_5241

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  • DOI: https://doi.org/10.1007/978-3-030-62345-6_5241

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