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• W2999589623 abstract "Abstract Background Medullary thyroid carcinomas (MTC) account for 3% to 5% of all thyroid cancers. In most cases, MTC is hereditary and occurs as part of the multiple endocrine neoplasia (MEN) type 2A and 2B syndromes. There is a strong genotype‐phenotype correlation associated with the respective RET mutations, making risk‐adapted management possible. Procedure We report the prospectively collected data on children and adolescents of the multicenter nonrandomized German GPOH‐MET registry. Children and adolescents with MTC and C‐cell hyperplasia (CCH) were included. Results From 1997 to June 2019, a total of 57 patients with MTC and 17 with CCH were reported. In patients with MTC, median follow‐up was five years (range, 0‐19) and median age at diagnosis 10 years (range, 0‐17). Overall survival and event‐free survival (EFS) were 87% and 52%, respectively. In total 96.4% of patients were affected by MEN2 syndromes, which was in 37/42 MEN2A and 3/28 MEN2B ( M918T mutation) inherited. EFS in MEN2A was 78%, and in MEN2B 38% ( P < 0.001). In multivariate analyses, lymph node (LN) status and postoperatively elevated calcitonin were significant prognostic factors for EFS. Notably, modest‐risk mutation carriers presented with MTC at a rather young age, without raised calcitonin, and LN metastases. Conclusions Identification of children carrying de novo RET M918T mutations by means of the characteristic phenotype is crucial to detect MTC at an early stage, which will be associated with improved survival. As calcitonin levels may be false‐negative and modest‐risk mutation carriers present with a variable phenotype, particular attention should be paid to these children." @default.
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• W2999589623 date "2020-01-11" @default.
• W2999589623 modified "2023-10-17" @default.
• W2999589623 title "Revisiting the genotype‐phenotype correlation in children with medullary thyroid carcinoma: A report from the GPOH‐MET registry" @default.
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• W2999589623 doi "https://doi.org/10.1002/pbc.28171" @default.
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