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September 12, 2025PLoS ONEOpen Access

Genotype-phenotype correlations of germline mutations in exon 10 of the RET proto-oncogene from 14 MEN2A families of Ethnic Han Chinese

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Authors

FLFeng LiWenzhou Medical University WCWeiying ChenWenzhou Medical University ZCZhenyu ChenXihua University

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Implication

Retrospective analysis identifies somatic mutations in exon 10 of the RET gene in MEN2A families, suggesting critical implications for early diagnosis and treatment.

Key Points

Exon 10 mutations in the RET gene cause significant clinical features and high penetrance for medullary thyroid carcinoma in MEN2A families.
Among 74 participants with mutations, the C618 variant was most prevalent at 71.6%, indicating a strong correlation with the familial MTC phenotype.
Significant differences were noted in clinical outcomes and serum calcitonin levels between patients with distinct RET mutations, guiding personalized treatment strategies.
The study highlights the need for genetic testing and family history assessment to improve early diagnosis of MEN2A and implement appropriate management.

Cite This Study

Li et al. (2025) studied this question.

synapsesocial.com/papers/68d44a3031b076d99fa53165 https://doi.org/10.1371/journal.pone.0332136

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Implication

Retrospective analysis identifies somatic mutations in exon 10 of the RET gene in MEN2A families, suggesting critical implications for early diagnosis and treatment.

Genotype-phenotype correlations of germline mutations in exon 10 of the RET proto-oncogene from 14 MEN2A families of Ethnic Han Chinese

Discussion

Member takes

Implication

Key Points

Cite This Study

Genotype-phenotype correlations of germline mutations in exon 10 of the RET proto-oncogene from 14 MEN2A families of Ethnic Han Chinese

Discussion

Member takes

Implication

Key Points

Cite This Study

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