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Updated: Jul 9, 2026
Spontaneous Murine Model of Anaplastic Thyroid Cancer
Published on: February 3, 2023
Hereditary non-medullary thyroid cancer
1Department of Surgery, University of California, San Francisco, 1600 Divisadero Street C-342, San Francisco, CA 94143, USA. kebebewe@surgery.ucsf.edu
Abstract:
An estimated 5% of all non-medullary thyroid cancers are hereditary. If three or more first-degree relatives are affected, there is a greater than 94% chance that these cases are hereditary non-medullary thyroid cancer (HNMTC). Although, the susceptibility gene(s) for HNMTC has not been identified, there are enough epidemiologic studies and kindreds reported to suggest a hereditary predisposition to thyroid cancer. Until the susceptibility genes are identified, clinicians will have to rely on comprehensive history taking to identify at-risk families and clinically screen at-risk family members. When families are at risk for HNMTC, it is unclear whether neck examination and or neck ultrasound is most effective for screening. Hereditary non-medullary thyroid cancer is associated with more aggressive disease than sporadic HNMTC, especially in index cases, with higher rates of multicentric tumors, lymph node metastasis, and extrathyroidal invasion. Aggressive screening may benefit other members of the affected kindred because the outcome for the non-index cases is better. Although no studies have demonstrated any difference in mortality in patients with HNMTC versus sporadic disease, disease-free survival is shorter in HNMTC. Aggressive surgical and postoperative medical therapy is warranted in patients with HNMTC. It is likely that emerging molecular approaches may help identify the gene or genes involved in HNMTC which would have important clinical ramifications.
Insights
Hereditary non-medullary thyroid cancer (HNMTC) accounts for 5% of thyroid cancers. Early detection and aggressive treatment are crucial due to its aggressive nature and shorter disease-free survival.
Area of Science:
- Oncology
- Genetics
- Endocrinology
Background:
- Hereditary non-medullary thyroid cancer (HNMTC) comprises an estimated 5% of all non-medullary thyroid cancers.
- A family history of three or more affected first-degree relatives suggests a high probability (>94%) of HNMTC.
- While specific susceptibility genes remain unidentified, epidemiological data strongly indicate a hereditary predisposition.
Purpose of the Study:
- To review the current understanding of hereditary non-medullary thyroid cancer (HNMTC).
- To discuss clinical screening strategies for at-risk families.
- To highlight the aggressive nature and management of HNMTC.
Main Methods:
- Literature review of epidemiological studies and kindreds reporting hereditary thyroid cancer.
- Analysis of clinical characteristics and outcomes in HNMTC.
- Discussion of current and potential future management strategies.
Main Results:
- HNMTC is associated with more aggressive disease compared to sporadic cases, including higher rates of multicentricity, lymph node metastasis, and extrathyroidal invasion.
- Disease-free survival is shorter in HNMTC patients, although mortality differences are not yet demonstrated.
- Aggressive screening and treatment may improve outcomes for affected kindred members.
Conclusions:
- Comprehensive family history is essential for identifying at-risk individuals for HNMTC.
- The optimal screening method (neck examination vs. ultrasound) for at-risk families requires further clarification.
- Aggressive surgical and postoperative medical therapies are warranted for HNMTC, with molecular approaches potentially identifying causative genes in the future.
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