Medullary thyroid carcinoma in children

Area of Science:

• Endocrinology
• Oncology
• Genetics

Background:

• Medullary thyroid carcinoma (MTC) originates from thyroid parafollicular C cells, comprising 5% of thyroid malignancies.
• MTC presents as sporadic (80%) or hereditary (20%), with hereditary forms associated with Multiple Endocrine Neoplasia syndromes (MEN2).
• Childhood MTC is typically associated with MEN2 families, while sporadic MTC is usually diagnosed in adults.

Purpose of the Study:

• To summarize the understanding of childhood medullary thyroid carcinoma.
• To highlight genotype-phenotype correlations in MEN2 syndromes.
• To outline diagnostic and therapeutic approaches for pediatric MTC.

Main Methods:

• Review of existing literature on MTC in children.
• Analysis of diagnostic criteria including serum calcitonin and neck ultrasound.
• Evaluation of treatment strategies, including surgery and pharmacotherapy.

Main Results:

• Children with clinically evident MTC often belong to MEN2A or MEN2B families.
• RET genetic screening identifies children at risk, who may develop MTC later in life.
• Total thyroidectomy and central neck dissection are standard, with potential to omit dissection if basal calcitonin is low.
• Vandetanib is effective for advanced metastatic MTC in both children and adults.

Conclusions:

• Childhood MTC diagnosis relies on calcitonin levels and imaging, with genetic screening crucial for hereditary cases.
• Treatment involves surgery and potentially targeted therapy, with tailored approaches based on disease stage and calcitonin levels.
• Understanding genotype-phenotype correlations aids in managing MEN2-associated MTC.