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. 2022 Dec 17;14(24):6226.
doi: 10.3390/cancers14246226.

Prophylactic and Early Thyroidectomy in RET Germline Mutation Carriers in Pediatric and Adult Population: Long-Term Outcomes of a Series of 63 Patients

Francesca Torresan  1 , Simona Censi  2 , Gianmaria Pennelli  3 , Francesca Galuppini  3 , Caterina Mian  2 , Maurizio Iacobone  1
Affiliations

Prophylactic and Early Thyroidectomy in RET Germline Mutation Carriers in Pediatric and Adult Population: Long-Term Outcomes of a Series of 63 Patients

Francesca Torresan et al. Cancers (Basel). .

Abstract

Prophylactic and early thyroidectomy in RET germline mutation carriers allows the removal of the thyroid before medullary thyroid carcinoma (MTC) develops, or while it is still confined to the gland. This study was aimed to assess the clinicopathological features in RET carriers according to the age at surgery and the long-term outcomes after prophylactic and early thyroidectomy. A retrospective analysis of 63 operated asymptomatic RET carriers diagnosed after familial genetic screening was performed. Twenty-one RET carriers were operated at pediatric (<18 yrs) and 42 at adult (≥18 yrs) age. Serum preoperative calcitonin levels were significantly lower in pediatric compared to adult patients (p = 0.04); moreover, adult RET carriers had a greater frequency of microMTC at pathology (p = 0.009). Permanent postoperative morbidity occurred in 9.5% of patients, without differences between the two groups. Biochemical postoperative cure was achieved in all patients. At a median follow-up of 14 years, all C-cell hyperplasia patients are disease-free; conversely, biochemical, and structural recurrence of disease occurred in three adults and one pediatric patient with microMTC. The independent predictive factors of MTC were the age at surgery, the preoperative calcitonin level and the RET mutational risk profile (p < 0.02). In conclusion, prophylactic and early thyroidectomy are safe and effective procedures in achieving definitive cure in most RET carriers. However, since recurrences may occur at long-term in case of microMTC, thyroidectomy should be possibly performed earlier to prevent microMTC development.

Keywords: C-cells hyperplasia; RET mutations; adult population; hereditary medullary thyroid carcinoma; pediatric population; prophylactic thyroidectomy.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
RET mutations in 63 patients undergoing prophylactic or early thyroidectomy.
Figure 2
Figure 2
ROC curve showing specificity and sensitivity of preoperative serum calcitonin levels in the detection of medullary thyroid carcinoma in 63 RET mutations carriers undergoing thyroidectomy.
Figure 3
Figure 3
Recurrence probability in 63 RET mutations carriers with C-cell hyperplasia and medullary thyroid carcinoma (MTC).
See this image and copyright information in PMC

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