Familial follicular cell-derived thyroid carcinoma

Area of Science:

• Endocrinology
• Oncology
• Genetics

Background:

• Follicular cell-derived well-differentiated thyroid cancers, including papillary (PTC) and follicular thyroid carcinomas, account for 95% of thyroid malignancies.
• Familial cases of these cancers represent 5% of all thyroid cancers and are classified as non-medullary thyroid carcinomas (NMTC).
• NMTC are broadly categorized into syndromic-associated and heterogeneous groups, with the former including conditions like Pendred syndrome, Carney complex (CNC), and PTEN-hamartoma tumor syndrome (PHTS).

Purpose of the Study:

• To review the clinical and pathological findings associated with familial papillary thyroid cancer (PTC).
• To highlight the importance of recognizing syndromic associations in patients with thyroid cancer.
• To emphasize the need for molecular genetic evaluation in identifying underlying familial syndromes.

Main Methods:

• Literature review of clinical and pathological findings in familial PTC.
• Discussion of syndromic associations including Familial Adenomatous Polyposis (FAP), CNC, Werner syndrome, and Pendred syndrome.
• Analysis of heterogeneous groups of familial PTC.

Main Results:

• Familial NMTC encompasses diverse clinical-pathological groups, including syndromic and non-syndromic forms.
• Syndromic associations with NMTC include a range of genetic disorders with varying degrees of established links.
• Established genotype-phenotype correlations are less defined in familial NMTC compared to medullary thyroid carcinomas (MTC).

Conclusions:

• Clinicians and pathologists must be aware of potential underlying familial syndromes in patients with thyroid cancer.
• Morphological findings can alert pathologists to recommend molecular genetic evaluation.
• Early identification of familial syndromes is crucial for appropriate patient management and genetic counseling.