Resumo
Definição
História e exame físico
Principais fatores diagnósticos
- presença de fatores de risco
- obstrução do intestino delgado
- pigmentação mucocutânea
Outros fatores diagnósticos
- desconforto e distensão abdominal
- dor abdominal
- hemorragia digestiva
- prolapso de pólipo perianal
- testículo aumentado (sem massas)
- ginecomastia bilateral
- fadiga
- palidez
Fatores de risco
- história familiar positiva
- mutação das linhas germinativas no gene STK11
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- endoscopia
- enterografia por ressonância magnética
- histologia do pólipo
- teste genético para STK11
Algoritmo de tratamento
polipose confirmada inicialmente: sintomática ou assintomática
após colonoscopia de vigilância inicial
Colaboradores
Autores
Luke Engelking, MD
Associate Professor of Internal Medicine
UT Southwestern Medical Center
Dallas
TX
Declarações
LE is a Principal Investigator for, and has received grant support from, the National Institutes of Health-National Institute of Diabetes and Digestive and Kidney Diseases (NIH-NIDDK) and the Cancer Prevention and Research Institute of Texas.
Po-Hong Liu, MD
Fellow
UT Southwestern Medical Center
Dallas
TX
Declarações
PL declares that he has no competing interests.
Agradecimentos
Dr Luke Engelking and Dr Po-Hong Liu would like to gratefully acknowledge Dr Brandie Heald, Dr James Church, and Dr Carol A. Burke, previous contributors to this topic.
Declarações
BH declares that she has received payment from the following but has no contractual agreement to disseminate product information for them: Speakers Bureau Myriad Genetics Lab, and the advisory board for Invitae. BH is also President of the Collaborative Group of the Americas on Inherited Colorectal Cancer, for which she does not receive payment. JC declares that he has no competing interests. CAB receives research support from Cancer Prevention Pharmaceuticals.
Revisores
Daniel Von Allmen, MD
Chief of Pediatric Surgery
University of North Carolina
Chapel Hill
NC
Declarações
DVA declares that he has no competing interests.
Patrick Morrison, MD
Consultant in Clinical Genetics
Department of Medical Genetics
Belfast HSC Trust
Belfast
UK
Declarações
PM declares that he has no competing interests.
Referências
Principais artigos
Boland CR, Idos GE, Durno C, et al. Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology. 2022 Jun;162(7):2063-85.Texto completo Resumo
Monahan KJ, Bradshaw N, Dolwani S, et al. Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG). Gut. 2020 Mar;69(3):411-44.Texto completo Resumo
van Leerdam ME, Roos VH, van Hooft JE, et al. Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) guideline. Endoscopy. 2019 Sep;51(9):877-95.Texto completo Resumo
Wagner A, Aretz S, Auranen A, et al. The management of Peutz-Jeghers syndrome: European Hereditary Tumour Group (EHTG) guideline. J Clin Med. 2021 Jan 27;10(3):473.Texto completo Resumo
National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal [internet publication].Texto completo
Artigos de referência
Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
Diagnósticos diferenciais
- Síndrome da polipose juvenil
- Síndrome do tumor hamartoma-PTEN
- Síndrome da polipose hereditária mista
Mais Diagnósticos diferenciaisDiretrizes
- NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal
- Adverse events associated with EGD and EGD-related techniques
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