Personalized management for phaeochromocytomas and paragangliomas in Latin America: A genetic perspective

Autor(es)

Freitas-Castro, Felipe ; Almeida, Madson Q.

• Tipo de documento: Artigo Científico
• Fonte: BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM; v. 39, n. 1, p. 8-pg., 2025-01-01.

Resumo

Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors with clinical heterogeneity and a high association with hereditary disease, affecting approximately 30 % of the cases. Differences in the presentation and genetic etiologies of PPGLs have been demonstrated between Chinese and European patients. The frequency of germline genetic diagnosis was remarkably higher in Brazilian patients (similar to 50 %) compared with other cohorts (Chinese 21 %, European 31 %, and The Cancer Genome Atlas Program cohort 27 %). Interestingly, germline SDHB genetic defects were also more prevalent in Brazilian patients (17 %) with PPGLs when compared with other cohorts (3-9 %). The SDHB exon 1 deletion was responsible for approximately 50 % of the SDHB pathogenic/likely pathogenic variants in Brazilian patients with PPGLs due to a founder effect. The germline SDHB exon 1 deletion represents similar to 10 % of the germline drivers in Brazilian patients (and possibly in Latin America). Therefore, a single diagnostic PCR for the SDHB exon 1 deletion might be very useful in clinical practice for genetic testing and counseling of patients with PPGLs in Latin America. (AU)

• Processo FAPESP: 19/15873-6 - Investigação de novos aspectos genéticos, clínicos e anatomopatológicos da hipertensão arterial de origem endócrina
• Beneficiário: Madson Queiroz Almeida
• Modalidade de apoio: Auxílio à Pesquisa - Temático
• Processo FAPESP: 21/11240-9 - Sequenciamento completo do exoma para investigação de novas causas genéticas dos Feocromocitomas e Paragangliomas metastáticos
• Beneficiário: Felipe Freitas de Castro
• Modalidade de apoio: Bolsas no Brasil - Pós-Doutorado