Familial Nonmedullary Thyroid Carcinoma (FNMTC) is a subtype of thyroid cancer characterized by its occurrence in two or more first-degree relatives without identifiable environmental causes. Despite its rarity, FNMTC presents distinctive clinical features, including early onset, multifocal and bilateral tumors, and high recurrence rates. While syndromic FNMTC cases have been associated with specific genetic mutations, non-syndromic cases lack a defined genetic basis. The definition of FNMTC remains contentious, but recent studies propose a threshold of three affected family members to distinguish it from sporadic cases. Clinical comparisons between familial and sporadic nonmedullary thyroid carcinoma suggest a potentially more aggressive nature in familial cases, especially in families with three or more affected members. The necessity for screening in FNMTC remains debated, to optimize efficacy, screening may be limited to families with three or more affected members.

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Familial Nonmedullary Thyroid Carcinoma: Definition, Genetics and Screening Challenges

  • Hannelore I. Coerts,
  • Rajam S. Raghunathan,
  • Insoo Suh,
  • Jesse D. Pasternak

摘要

Familial Nonmedullary Thyroid Carcinoma (FNMTC) is a subtype of thyroid cancer characterized by its occurrence in two or more first-degree relatives without identifiable environmental causes. Despite its rarity, FNMTC presents distinctive clinical features, including early onset, multifocal and bilateral tumors, and high recurrence rates. While syndromic FNMTC cases have been associated with specific genetic mutations, non-syndromic cases lack a defined genetic basis. The definition of FNMTC remains contentious, but recent studies propose a threshold of three affected family members to distinguish it from sporadic cases. Clinical comparisons between familial and sporadic nonmedullary thyroid carcinoma suggest a potentially more aggressive nature in familial cases, especially in families with three or more affected members. The necessity for screening in FNMTC remains debated, to optimize efficacy, screening may be limited to families with three or more affected members.