Scholarlink

Background <p><i>RET</i> genetic screening identifies individuals at risk of hereditary medullary thyroid carcinoma. The optimal timing for thyroidectomy in gene carriers is debated.</p> Methods <p>Outcomes of MEN2A patients diagnosed at ≤ 20 years were evaluated.</p> Results <p>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&#xa0;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).</p> Conclusions <p>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 <i>RET</i> carriers with low serum CTN levels.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Optimal timing of early thyroidectomy in young patients with MEN2A and its impact on disease outcome

  • 期刊论文

  • 发表日期：

    2025年9月30日

查看全文
  • Laura Marmitt,
  • Flávia Oliveira Facuri Valente,
  • Cleber Pinto Camacho,
  • Marta Amaro da Silveira Duval,
  • Susan Chow Lindsey,
  • André Borsatto Zanella,
  • Carla Ferreira Vaz,
  • Rui Monteiro de Barros Maciel,
  • Ana Luiza Maia

摘要

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.