Pre- and Post-operative Circulating Tumoral DNA in Patients With Medullary Thyroid Carcinoma.
J Clin Endocrinol Metab
; 107(8): e3420-e3427, 2022 07 14.
Article
em En
| MEDLINE
| ID: mdl-35470851
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. OBJECTIVE:
The aim of this study was to evaluate the clinical relevance of pre- and post-operative ctDNA in sporadic medullary thyroid cancer (sMTC).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.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 (Pâ =â 0.0468). Patients with positive pre-operative ctDNA showed a higher variation allele frequency value of the somatic driver mutation (Pâ =â 0.0434) and a higher frequency of persistent disease (Pâ =â 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 (Pâ =â 0.0307) and CEA (Pâ =â 0.0013) were found in positive ctDNA cases. Finally, the 7 cases harboring either pre- or post-operative positive ctDNA had a persistent disease (Pâ =â 0.0005) showing a higher post-operative serum Ct when compared with cases with negative ctDNA (Pâ =â 0.0092).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.Palavras-chave
Texto completo:
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias da Glândula Tireoide
/
Carcinoma Neuroendócrino
/
DNA Tumoral Circulante
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
J Clin Endocrinol Metab
Ano de publicação:
2022
Tipo de documento:
Article