Landscape of Phenotype-Genotype Correlations in Romanian Patients with Medullary Thyroid Carcinoma

Germline RET screening is mandatory for all MTC cases. Somatic testing is critical in advanced disease, where M918T prevails in 75% of cases and guides tyrosine kinase inhibitor therapy. Codon 634 is the most frequent mutation in Romanian MTC, highlighting regional variation warranting population-adjusted screening and earlier prophylactic thyroidectomy.

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Publication Details

Journal
Cancers
Published
2025-12-27
DOI
https://doi.org/10.3390/cancers18010093
Primary Topic
Thyroid Cancer Diagnosis and Treatment
Type
article
Field-Weighted Citation Impact
0.00
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article

Landscape of Phenotype-Genotype Correlations in Romanian Patients with Medullary Thyroid Carcinoma

Elena Braha, Sorina Schipor, Laura-Semonia Stanescu, Monica Livia Gheorghiu et al.
Cancers
Thyroid Cancer Diagnosis and Treatment
article

Landscape of Phenotype-Genotype Correlations in Romanian Patients with Medullary Thyroid Carcinoma

Elena Braha, Sorina Schipor, Laura-Semonia Stanescu, Monica Livia Gheorghiu, Corin Virgil Badiu, Sofia-Maria Lider-Burciulescu, Andrei Muresan
article en

Abstract

Germline RET screening is mandatory for all MTC cases. Somatic testing is critical in advanced disease, where M918T prevails in 75% of cases and guides tyrosine kinase inhibitor therapy. Codon 634 is the most frequent mutation in Romanian MTC, highlighting regional variation warranting population-adjusted screening and earlier prophylactic thyroidectomy.

CancersVol. 18(1)
Carol Davila University of Medicine and Pharmacy (RO), Institutul Național de Endocrinologie C.I. Parhon (RO), National Center for Geriatrics and Gerontology (JP)
Good health and well-being
Openalex Percentile: Top 29%
Thyroid Cancer Diagnosis and Treatment
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