Assuntos
Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/terapia , Colonoscopia , Neoplasias Colorretais/diagnóstico por imagem , Neoplasias Colorretais/terapia , Detecção Precoce de Câncer , Síndromes Neoplásicas Hereditárias/diagnóstico por imagem , Síndromes Neoplásicas Hereditárias/terapia , Vigilância da População , Alelos , Neoplasias Encefálicas/genética , Neoplasias Colorretais/genética , Consenso , Neoplasias Duodenais/diagnóstico por imagem , Neoplasias do Endométrio/diagnóstico , Feminino , Testes Genéticos , Humanos , Neoplasias do Íleo/diagnóstico por imagem , Neoplasias do Jejuno/diagnóstico por imagem , Leucemia/diagnóstico , Linfoma/diagnóstico , Imageamento por Ressonância Magnética , Síndromes Neoplásicas Hereditárias/genética , Neoplasias Urológicas/diagnósticoRESUMO
The US Multi-Society Task Force on Colorectal Cancer, with invited experts, developed a consensus statement and recommendations to assist health care providers with appropriate management of patients with biallelic mismatch repair deficiency (BMMRD) syndrome, also called constitutional mismatch repair deficiency syndrome. This position paper outlines what is known about BMMRD, the unique genetic and clinical aspects of the disease, and reviews the current management approaches to this disorder. This article represents a starting point from which diagnostic and management decisions can undergo rigorous testing for efficacy. There is a lack of strong evidence and a requirement for further research. Nevertheless, providers need direction on how to recognize and care for BMMRD patients today. In addition to identifying areas of research, this article provides guidance for surveillance and management. The major challenge is that BMMRD is rare, limiting the ability to accumulate unbiased data and develop controlled prospective trials. The formation of effective international consortia that collaborate and share data is proposed to accelerate our understanding of this disease.
Assuntos
Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/terapia , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/terapia , Neoplasias do Endométrio/diagnóstico , Neoplasias Hepáticas/diagnóstico , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/terapia , Vigilância da População , Neoplasias Urológicas/diagnóstico , Alelos , Neoplasias Encefálicas/genética , Neoplasias Colorretais/genética , Neoplasias do Endométrio/genética , Feminino , Aconselhamento Genético , Humanos , Neoplasias Hepáticas/genética , Síndromes Neoplásicas Hereditárias/genética , Neoplasias Urológicas/genéticaRESUMO
The US Multi-Society Task Force on Colorectal Cancer, with invited experts, developed a consensus statement and recommendations to assist health care providers with appropriate management of patients with biallelic mismatch repair deficiency (BMMRD) syndrome, also called constitutional mismatch repair deficiency syndrome. This position paper outlines what is known about BMMRD, the unique genetic and clinical aspects of the disease, and reviews the current management approaches to this disorder. This article represents a starting point from which diagnostic and management decisions can undergo rigorous testing for efficacy. There is a lack of strong evidence and a requirement for further research. Nevertheless, providers need direction on how to recognize and care for BMMRD patients today. In addition to identifying areas of research, this article provides guidance for surveillance and management. The major challenge is that BMMRD is rare, limiting the ability to accumulate unbiased data and develop controlled prospective trials. The formation of effective international consortia that collaborate and share data is proposed to accelerate our understanding of this disease.
