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Pre- and Post-operative Circulating Tumoral DNA in Patients With Medullary Thyroid Carcinoma.
- Source :
-
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2022 Jul 14; Vol. 107 (8), pp. e3420-e3427. - Publication Year :
- 2022
-
Abstract
- Context: Measurement of driver mutations in circulating tumoral DNA (ctDNA) obtained by liquid biopsy has been shown to be a sensitive biomarker in several human tumors.<br />Objective: The aim of this study was to evaluate the clinical relevance of pre- and post-operative ctDNA in sporadic medullary thyroid cancer (sMTC).<br />Methods: We studied pre- and post-operative ctDNA in 26 and 23 sMTC patients, respectively. ctDNA results were correlated to serum calcitonin (Ct), carcinoembryonic antigen (CEA), and other clinical/pathological features.<br />Results: Twenty-six of 29 (89.7%) sMTCs were mutated either for RET or RAS and 3/29 (10.3%) were negative. Four of 26 (15.4%) cases showed positive pre-operative ctDNA with a significantly higher presence of RET M918T mutation (P = 0.0468). Patients with positive pre-operative ctDNA showed a higher variation allele frequency value of the somatic driver mutation (P = 0.0434) and a higher frequency of persistent disease (P = 0.0221). Post-operative ctDNA was positive only in 3/23 (13%) sMTCs and no one was positive for pre-operative ctDNA. Higher values of both Ct (P = 0.0307) and CEA (P = 0.0013) were found in positive ctDNA cases. Finally, the 7 cases harboring either pre- or post-operative positive ctDNA had a persistent disease (P = 0.0005) showing a higher post-operative serum Ct when compared with cases with negative ctDNA (P = 0.0092).<br />Conclusions: Pre-operative ctDNA in medullary thyroid cancer is not useful for diagnostic purposes, but it can be useful for predicting the outcome of the disease. In our series, post-operative ctDNA showed a potential for monitoring the response to therapies, but further studies are required to confirm our results.<br /> (© The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
- Subjects :
- Biomarkers, Tumor genetics
Carcinoembryonic Antigen genetics
Humans
Mutation
Carcinoma, Neuroendocrine diagnosis
Carcinoma, Neuroendocrine genetics
Carcinoma, Neuroendocrine surgery
Circulating Tumor DNA genetics
Thyroid Neoplasms diagnosis
Thyroid Neoplasms genetics
Thyroid Neoplasms surgery
Subjects
Details
- Language :
- English
- ISSN :
- 1945-7197
- Volume :
- 107
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- The Journal of clinical endocrinology and metabolism
- Publication Type :
- Academic Journal
- Accession number :
- 35470851
- Full Text :
- https://doi.org/10.1210/clinem/dgac222