We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Pediatric Medullary Thyroid Carcinoma: Clinical Presentations and Long-Term Outcomes in 144 Patients Over 6 Decades.
- Authors
Hensley, Sarah G; Hu, Mimi I; Bassett, Roland L; Ying, Anita K; Zafereo, Mark E; Perrier, Nancy D; Busaidy, Naifa L; Hyde, Samuel M; Grubbs, Elizabeth G; Waguespack, Steven G
- 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.
- Subjects
MEDULLARY thyroid carcinoma; SYMPTOMS; OLDER patients; OVERALL survival; FAMILY history (Medicine); CHILD patients
- Publication
Journal of Clinical Endocrinology & Metabolism, 2024, Vol 109, Issue 9, p2256
- ISSN
0021-972X
- Publication type
Article
- DOI
10.1210/clinem/dgae133