ArticleThe Journal of clinical endocrinology and metabolism2024
Pediatric Medullary Thyroid Carcinoma: Clinical Presentations and Long-Term Outcomes in 144 Patients Over 6 Decades.
Article in The Journal of clinical endocrinology and metabolism, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 13 citations in OpenAlex.
- Article
- The Prostate is a Common Site of Disease in Patients with MEN2B and Medullary Thyroid Carcinoma.Endocrine-related cancer · 2026Observational
- Optimal timing of early thyroidectomy in young patients with MEN2A and its impact on disease outcome.Endocrine · 2025Observational
- A Comparative Study on the Multidimensional Features of Hereditary and Sporadic Medullary Thyroid Carcinoma Patients: A Single-Center Retrospective Study.Medicina (Kaunas, Lithuania) · 2025Article
- Paediatric Thyroid Carcinoma: The Genetic Revolution and Its Implications for Therapy and Outcomes.Cancers · 2025Review
- An Analysis of Primary Hyperparathyroidism in Individuals Diagnosed with Multiple Endocrine Neoplasia Type 2.Diseases (Basel, Switzerland) · 2025Review
- Overview of management and therapeutic advances in medullary thyroid cancer.Endocrine oncology (Bristol, England) · 2025Review
- Medullary thyroid carcinoma in a 6-year-old boy with previous Langerhans cell histiocytosis presenting high level of pro-calcitonin.Pediatric endocrinology, diabetes, and metabolism · 2024Article
- Medullary thyroid carcinoma and RET molecular testing: A virtual tumor board on clinical decision-making.CA: a cancer journal for cliniciansArticle
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
contextSporadic medullary thyroid carcinoma (sMTC) rarely occurs in childhood and no studies have specifically focused on this entity.
objectiveTo describe the clinical presentations and long-term outcomes of a large cohort of children and young adults with sMTC compared with hereditary MTC (hMTC).
methodsRetrospective study of 144 patients diagnosed with MTC between 1961 and 2019 at an age ≤ 21 years and evaluated at a tertiary referral center.
resultsIn contrast to hMTC (n = 124/144, 86%), patients with sMTC (n = 20/144, 14%) are older (P < .0001), have larger tumors (P < .0001), a higher initial stage grouping (P = .001) and have more structural disease (P = .0045) and distant metastases (DM) (P = .00084) at last follow-up, but are not more likely to die from MTC (P = .42). Among 77 patients diagnosed clinically, not by family history (20/20 sMTC and 57/124 hMTC), there was no difference in the initial stage (P = .27), presence of DM at diagnosis (P = 1.0), disease status at last follow-up (P = .13), overall survival (P = .57), or disease-specific survival (P = .87). Of the 12 sMTC tumors that underwent somatic testing, 11 (91%) had an identifiable alteration: 10 RET gene alterations and 1 ALK fusion.
conclusionsMTC is primarily a RET-driven disease that represents 14% of childhood-onset MTC in this cohort. Pediatric sMTC patients are older, present with clinical disease at a more advanced TNM classification, and have more persistent disease at last follow-up compared with hMTC, but these differences disappear when comparing those presenting clinically. Somatic molecular testing should be considered in sMTC patients who would benefit from systemic therapy.
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