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Translational Medicine / 转化医学Thyroid Cancer & MEN Syndromes

Frédéric Castinetti

MD, PhD

🏢Aix-Marseille University, La Conception Hospital🌐France

Professor of Endocrinology; Head, Department of Endocrinology

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Key Papers
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Awards
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Key Contributions

👥Biography 个人简介

Frédéric Castinetti, MD, PhD is Professor of Endocrinology and Head of the Department of Endocrinology at Aix-Marseille University and La Conception Hospital in Marseille, France. He is an internationally recognized expert in hereditary endocrine cancer syndromes, with a particular focus on Multiple Endocrine Neoplasia type 2 (MEN2), medullary thyroid cancer (MTC), and pituitary tumor genetics. His research integrates molecular genetics, clinical endocrinology, and surgical oncology to optimize outcomes for patients with hereditary endocrine neoplasias. Professor Castinetti has made seminal contributions to the understanding of genotype–phenotype correlations in MEN2, providing critical evidence for timing recommendations on prophylactic thyroidectomy in RET mutation carriers. He led studies on outcomes of MTC in MEN2A and MEN2B patients treated at reference centers in France, contributing to European consensus guidelines. His research on rare pituitary tumors, including pituitary carcinomas and aggressive adenomas, complements his MEN work and addresses the full spectrum of endocrine neoplasia syndromes. He chairs the French Society of Endocrinology working group on hereditary endocrine tumors, contributes to the European Reference Network on Rare Endocrine Conditions (Endo-ERN), and has co-authored over 200 peer-reviewed publications. He is a frequent invited speaker at the European Congress of Endocrinology and American Thyroid Association meetings.

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🧪Research Fields 研究领域

Multiple Endocrine Neoplasia Type 2
Medullary Thyroid Cancer
Pituitary Tumors
Hereditary Endocrine Cancer
RET Germline Mutations
Prophylactic Thyroidectomy

🎓Key Contributions 主要贡献

Genotype–Phenotype Correlations and Prophylactic Thyroidectomy Timing in MEN2

Led multicenter French studies establishing clinical and molecular predictors of MTC aggressiveness in MEN2A and MEN2B kindreds, informing international consensus recommendations on the optimal age and biochemical thresholds for prophylactic thyroidectomy in RET germline mutation carriers.

Long-Term Outcomes After Prophylactic Thyroidectomy in MEN2

Conducted the largest French cohort studies on long-term oncological outcomes following prophylactic thyroidectomy in MEN2, demonstrating that early surgery in appropriate-risk RET mutation carriers achieves near-complete cure and validating current risk-stratified guidelines.

Pituitary Carcinoma and Aggressive Pituitary Tumors

Contributed to international consensus classifications and treatment algorithms for pituitary carcinomas and aggressive pituitary adenomas, including evaluation of temozolomide chemotherapy and emerging targeted approaches in these rare tumors within the MEN1 and sporadic settings.

Representative Works 代表性著作

[1]

Management of Patients with Hereditary Medullary Thyroid Carcinoma

European Journal of Endocrinology (2019)

Comprehensive review and data synthesis on the management of MEN2-associated MTC, including prophylactic thyroidectomy criteria, surveillance, and systemic therapy for advanced disease.

[2]

The Pituitary Society Guidance: Pituitary Tumour Classification and Perioperative Management of Pituitary Tumours

Nature Reviews Endocrinology (2023)

International consensus guidance on pituitary tumor classification and perioperative management, incorporating the latest WHO 2022 criteria and emerging molecular stratification.

[3]

Risk of Malignancy in MEN1 Patients: Results from a National French Prospective Study

Journal of Clinical Endocrinology and Metabolism (2017)

Prospective French cohort study characterizing the spectrum and risk of malignant transformation in MEN1, informing surveillance protocols and surgical intervention thresholds.

🏆Awards & Recognition 奖项与荣誉

🏆French Society of Endocrinology Young Investigator Prize
🏆European Society of Endocrinology Research Award
🏆Endo-ERN Distinguished Contribution Award

📄Data Sources 数据来源

Last updated: 2026-04-06 | All information from publicly available academic sources

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