Hereditary versus sporadic medullary thyroid carcinoma: A single tertiary centre cohort study
https://doi.org/10.15605/jafes.041.S1
- Author:
Qin Zhi Lee
1
;
Raja Nurazni Raja Azwan
1
;
Chin Voon Tong
1
;
Zanariah Hussein
1
Author Information
1. Endocrinology Unit, Department of Medicine, Hospital Putrajaya
- Publication Type:Journal Article
- MeSH:
Thyroid Neoplasms;
Cohort Studies
- From:
Journal of the ASEAN Federation of Endocrine Societies
2026;41(S1):9-
- CountryPhilippines
- Language:English
-
Abstract:
Introduction:Medullary thyroid carcinoma (MTC) comprises sporadic and hereditary forms, the latter commonly associated with
multiple endocrine neoplasia type 2 (MEN2) which is identifiable through genetic screening of germline RET protooncogene. We compared the clinicopathological features and outcomes of hereditary and sporadic MTC in our single
centre.
Methodology:We conducted a retrospective audit of patients with MTC from 2000 to 2026. Patients were classified as either hereditary
or sporadic based on genetic testing and/or family history of MTC/MEN2A syndrome. Variables analyzed included age
at diagnosis, mode of presentation, pre-operative calcitonin, tumor size, lymph node (LN) involvement, post-operative
biochemical cure, repeat surgery and presence of structural residual/recurrent disease.
Results:A total of 57 patients were included (18 hereditary [31.6%], 39 presumed sporadic [68.4%]) with a median follow-up of
7.5 years (IQR 1.5–12.4). Hereditary MTC was diagnosed at a significantly younger age than sporadic MTC (33.0 vs. 44.7
years, p = 0.010) where 33% of the cases were diagnosed via screening detection whereas sporadic MTC more commonly
presented with symptomatic neck swelling (84.6% vs. 50.0%, p = 0.008). There were no significant differences in median
pre-operative calcitonin (513.5 vs. 1148.0 pg/mL, p = 0.101), tumor size (24.5 vs. 22.5 mm, p = 0.301), or LN involvement
(41.7% vs. 61.5%, p = 0.307) between hereditary and sporadic MTC. Long-term outcomes were also comparable, with
no differences in biochemical status, need for repeat surgery or residual/recurrent structural disease.
Conclusion:Hereditary MTC presents earlier and is more frequently detected due to screening, whereas sporadic MTC often presents
symptomatically. Long-term outcomes are not primarily determined by hereditary status alone. Early access to RET
mutation testing with a view to initiating prophylactic treatments rather than post detection surgery may improve
disease burden.
- Full text:202607281013566068BP_A003.pdf
