Evidence map›Paper›PMID 41514606›Full record

ArticleCancers2025

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

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

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Article in Cancers, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Laura-Semonia StanescuDepartment of Endocrinology, "Carol Davila" University of Medicine and Pharmacy, 0505474 Bucharest, Romania.
Sofia-Maria Lider-BurciulescuDepartment of Physiology, "Carol Davila" University of Medicine and Pharmacy, 0505474 Bucharest, Romania.
Andrei MuresanDepartment of Research, "CI Parhon" National Institute of Endocrinology, 011863 Bucharest, Romania.
Sorina Violeta SchiporDepartment of Research, "CI Parhon" National Institute of Endocrinology, 011863 Bucharest, Romania.ORCID 0000-0002-4886-2174
Elena BrahaDepartment of Research, "CI Parhon" National Institute of Endocrinology, 011863 Bucharest, Romania.
Monica Livia GheorghiuDepartment of Endocrinology, "Carol Davila" University of Medicine and Pharmacy, 0505474 Bucharest, Romania.ORCID 0000-0002-1754-5619
Corin BadiuDepartment of Endocrinology, "Carol Davila" University of Medicine and Pharmacy, 0505474 Bucharest, Romania.ORCID 0000-0002-8087-8125

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND/

objectiveTo comprehensively characterize the genetic landscape of medullary thyroid carcinoma (MTC) in a Romanian cohort.

methodsGermline and somatic RET testing were performed in 164 MTC patients (105 sporadic, 59 hereditary) consecutively enrolled at a single tertiary center (2021-2024) using genomic DNA or DNA extracted from fresh surgical or paraffin-embedded pathology specimens.

resultsHereditary MTC (hMTC) accounted for 59/164 (35.9%) cases. Among hMTC, 58/59 (98.3%) had MEN2 (72.4% classic, 5.2% with cutaneous lichen amyloidosis, 5.2% with Hirschsprung disease, and 17.2% with familial medullary thyroid carcinoma), and 1/59 (1.7%) had MEN3. Codon 634 mutations were the most prevalent (33/59, 55.9%). Extracellular cysteine-rich domain mutations were significantly more prevalent in syndromic cases (

conclusionsGermline 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.

Indexed as

germlinehereditarymedullary thyroid cancermutationsRETsomaticsporadic

Identifiers

PMID41514606
PMCPMC12784787

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