| Texto completo | |
| Autor(es): |
Marmitt, Laura
;
Valente, Flavia Oliveira Facuri
;
Camacho, Cleber Pinto
;
da Silveira Duval, Marta Amaro
;
Lindsey, Susan Chow
;
Zanella, Andre Borsatto
;
Vaz, Carla Ferreira
;
de Barros Maciel, Rui Monteiro
;
Maia, Ana Luiza
Número total de Autores: 9
|
| Tipo de documento: | Artigo Científico |
| Fonte: | ENDOCRINE; v. N/A, p. 10-pg., 2025-09-30. |
| Resumo | |
Background RET genetic screening identifies individuals at risk of hereditary medullary thyroid carcinoma. The optimal timing for thyroidectomy in gene carriers is debated. Methods Outcomes of MEN2A patients diagnosed at <= 20 years were evaluated. Results Of 104 patients, four were index cases, and 100 (96.2%) diagnosed by genetic screening. The mean age at diagnosis was 11.2 +/- 5.6 years, and 65.4% were female. The most common pathogenic variant occurred at codon 634 (70.2%). Excluding index cases, 83 patients underwent thyroidectomy, 15 were under active surveillance, and two awaited surgery. The mean age at surgery was 13.2 +/- 5.0 years, and the median preoperative basal serum calcitonin (preCTN) level was 28.0 pg/mL (9.9-60.0). Tumor size ranged 0.1-3.5 cm. After a mean period of 10.9 years, 74 (91.4%) patients achieved an excellent response, while 7 (8.6%) had persistent disease (4 with biochemical and 3 with structural disease). Variables associated with persistent disease included age at diagnosis, age at surgery, preCTN levels, and lymph node or distant metastasis. ROC analysis assessed preCTN level as a predictor of lymph node metastasis and persistent disease; optimal preCTN cutoff values were 28.5 pg/mL (100% sensitivity and 53% specificity) and 71.9 pg/mL (100% sensitivity and 88% specificity). Conclusions Most young MEN2A patients who underwent thyroidectomy later than recommended by guidelines were disease-free after long-term follow-up, suggesting the possibility of delaying surgery in selected RET carriers with low serum CTN levels. (AU) | |
| Processo FAPESP: | 21/02752-6 - Neoplasia Endócrina múltipla tipo 2 e Carcinoma Medular da Tiroide: novas questões da biologia do desenvolvimento, genética, imunologia, epidemiologia, mecanismo de doença e manejo clínico |
| Beneficiário: | Rui Monteiro de Barros Maciel |
| Modalidade de apoio: | Auxílio à Pesquisa - Temático |