{"doi":"10.1210/clinem/dgae133","title":"Pediatric Medullary Thyroid Carcinoma: Clinical Presentations and Long-Term Outcomes in 144 Patients Over 6 Decades","abstract":"CONTEXT: Sporadic medullary thyroid carcinoma (sMTC) rarely occurs in childhood and no studies have specifically focused on this entity. OBJECTIVE: To describe the clinical presentations and long-term outcomes of a large cohort of children and young adults with sMTC compared with hereditary MTC (hMTC). METHODS: Retrospective study of 144 patients diagnosed with MTC between 1961 and 2019 at an age ≤ 21 years and evaluated at a tertiary referral center. RESULTS: In 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. CONCLUSION: sMTC 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.","journal":"The Journal of Clinical Endocrinology & Metabolism","year":2024,"id":432035,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":15,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.5787,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":239797,"name":"Mimi I. Hu","orcid":"0000-0003-0355-030X","position":1,"is_corresponding":false},{"id":58751,"name":"Roland L. Bassett","orcid":"0000-0002-4534-2042","position":2,"is_corresponding":false},{"id":1236624,"name":"Anita K. Ying","orcid":"0000-0001-9136-5280","position":3,"is_corresponding":false},{"id":296139,"name":"Mark Zafereo","orcid":"0000-0001-7918-9739","position":4,"is_corresponding":false},{"id":245221,"name":"Nancy D. Perrier","orcid":"0000-0001-5933-1005","position":5,"is_corresponding":false},{"id":943958,"name":"Naifa L. Busaidy","orcid":"0000-0002-3808-6378","position":6,"is_corresponding":false},{"id":476564,"name":"Samuel M. Hyde","orcid":"0000-0003-3008-667X","position":7,"is_corresponding":false},{"id":1236625,"name":"Elizabeth Grubbs","orcid":"0000-0002-1550-8427","position":8,"is_corresponding":false},{"id":296141,"name":"Steven G. Waguespack","orcid":"0000-0003-0280-0100","position":9,"is_corresponding":false},{"id":1236623,"name":"S Hensley","orcid":"0000-0003-3342-2499","position":0,"is_corresponding":true}],"reference_count":69,"raw_metadata":null,"created_at":"2026-07-19T01:59:35.267142Z","pmid":"38441533","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}