Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance
Arch. endocrinol. metab. (Online)
; 63(4): 369-375, July-Aug. 2019. tab, graf
Artigo
em Inglês
| LILACS
| ID: biblio-1019359
Biblioteca responsável:
BR1.1
ABSTRACT
ABSTRACT Objective Paraganglioma (PGL) and pheochromocytoma (PCC) are rare neuroendocrine tumors that were considered to be predominantly sporadic. However, with the identification of novel susceptibility genes over the last decade, it is currently estimated that up to 40% of cases can occur in the context of a hereditary syndrome. We aimed to characterize PGL/PCC families to exemplify the different scenarios in which hereditary syndromes can be suspected and to emphasize the importance for patients and their families of making an opportune genetic diagnosis. Materials and methods Retrospective analysis of patients diagnosed with PGL/PCC. Germline mutations were studied using next-generation sequencing panels including SDHA, SDHB, SDHC and SDHD. Clinical data were collected from clinical records, and all patients received genetic counseling. Results We describe 4 families with PGL/PCC and germline mutations in SDH complex genes. 2 families have SDHB mutations and 2 SDHD mutations. The clinical presentation of the patients and their families was heterogeneous, with some being atypical according to the literature. Conclusions PGL/PCC are more commonly associated with a germline mutation than any other cancer type, therefore, all individuals with these types of tumors should undergo genetic risk evaluation. NGS multigene panel testing is a cost-effective approach given the overlapping phenotypes. Individuals with germline mutations associated with PGL/PCC should undergo lifelong clinical, biochemical and imaging surveillance and their families should undergo genetic counseling. For all these reasons, it is critical that all medical staff can suspect and diagnose these inherited cancer predisposition syndromes.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Contexto em Saúde:
ODS3 - Saúde e Bem-Estar
Problema de saúde:
Meta 3.4: Reduzir as mortes prematuras devido doenças não transmissíveis
Base de dados:
LILACS
Assunto principal:
Paraganglioma
/
Feocromocitoma
/
Neoplasias das Glândulas Suprarrenais
/
Mutação em Linhagem Germinativa
Tipo de estudo:
Estudo diagnóstico
/
Estudo observacional
/
Estudo prognóstico
/
Fatores de risco
/
Estudo de rastreamento
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Arch. endocrinol. metab. (Online)
Assunto da revista:
Endocrinologia
/
Metabolismo
Ano de publicação:
2019
Tipo de documento:
Artigo
País de afiliação:
Brasil
/
Colômbia
Instituição/País de afiliação:
A.C. Camargo Cancer Center/BR
/
Hospital Sírio-Libanês/BR
/
Hospital Universitario San Ignacio/CO