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Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study

Rui M B Maciel1, Cleber P Camacho1, Lígia V M Assumpção2

  • 1Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil.

Endocrine Connections
|February 15, 2019
PubMed

Insights

Multiple endocrine neoplasia type 2 (MEN2) is a genetic disorder linked to RET gene mutations. This study reveals unique RET mutation profiles in Brazilian patients, influenced by diverse ancestry, differing from European populations.

Area of Science:

  • Genetics
  • Endocrinology
  • Oncology

Background:

  • Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disorder.
  • It is caused by germline mutations in the RET gene, leading to medullary thyroid carcinoma (MTC) and other endocrine tumors.
  • RET mutation profiles can exhibit geographical variations.

Purpose of the Study:

  • To compare the types and prevalence of RET mutations in Brazilian MEN2 patients with international data.
  • To investigate the influence of Brazil's diverse genetic ancestry on RET mutation patterns.

Main Methods:

  • Collected clinical and molecular data from 554 patients with surgically confirmed MTC from 176 MEN2 families across 18 Brazilian centers.
  • Analyzed RET gene mutation types and frequencies.
  • Compared Brazilian data with major published European series.

Main Results:

  • The most frequent mutations in Brazil were in codon 634 (76 families), codon 918 (34 families), and codon 804 (22 families).
  • Similar prevalence was observed for mutations in codons C618, C620, C630, E768, and S891 compared to Europe.
  • Some mutations showed lower prevalence in Brazil, while G533C and M918V were found mainly in Brazil, reflecting the country's mixed ancestry.

Conclusions:

  • Brazilian MEN2 patients exhibit distinct RET mutation profiles.
  • Genetic ancestry significantly influences the prevalence of specific RET mutations in Brazil.
  • Findings highlight the importance of considering ethnic background in understanding MEN2 genetics.
Keywords:
BrazilRETmedullary thyroid carcinomamultiple endocrine neoplasiapheochromocytoma

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