Rastreamento de vigilância oncológica para pacientes com SPJ.
O rastreamento e a vigilância do câncer são indicados para todos os indivíduos com SPJ.
Há dados limitados sobre a eficácia das várias modalidades de vigilância do câncer para pacientes com SPJ. As diretrizes para o rastreamento de câncer baseiam-se amplamente no parecer de especialistas.
Câncer gastrointestinal
As diretrizes europeias e dos EUA, junto com declarações de consenso, fazem as seguintes recomendações relativas à vigilância gastrointestinal:[17]Latchford A, Cohen S, Auth M, et al. Management of Peutz-Jeghers syndrome in children and adolescents: a position paper from the ESPGHAN Polyposis Working Group. J Pediatr Gastroenterol Nutr. 2019 Mar;68(3):442-52.
https://journals.lww.com/jpgn/Fulltext/2019/03000/Management_of_Peutz_Jeghers_Syndrome_in_Children.31.aspx
http://www.ncbi.nlm.nih.gov/pubmed/30585892?tool=bestpractice.com
[18]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.
https://www.gastrojournal.org/article/S0016-5085(22)00151-2/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/35487791?tool=bestpractice.com
[22]National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal, endometrial, and gastric [internet publication].
https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1436
[25]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.
https://gut.bmj.com/content/69/3/411.long
http://www.ncbi.nlm.nih.gov/pubmed/31780574?tool=bestpractice.com
[26]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.
https://www.thieme-connect.com/products/ejournals/html/10.1055/a-0965-0605
http://www.ncbi.nlm.nih.gov/pubmed/31342472?tool=bestpractice.com
[28]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.
https://www.mdpi.com/2077-0383/10/3/473/htm
http://www.ncbi.nlm.nih.gov/pubmed/33513864?tool=bestpractice.com
[39]MacFarland SP, Becktell K, Schneider KW, et al. Pediatric cancer screening in hereditary gastrointestinal cancer risk syndromes: an update from the AACR Childhood Cancer Predisposition Working Group. Clin Cancer Res. 2024 Oct 15;30(20):4566-71.
https://aacrjournals.org/clincancerres/article/30/20/4566/748802/Pediatric-Cancer-Screening-in-Hereditary
http://www.ncbi.nlm.nih.gov/pubmed/39190470?tool=bestpractice.com
[40]Valle L, Monahan KJ. Genetic predisposition to gastrointestinal polyposis: syndromes, tumour features, genetic testing, and clinical management. Lancet Gastroenterol Hepatol. 2024 Jan;9(1):68-82.
http://www.ncbi.nlm.nih.gov/pubmed/37931640?tool=bestpractice.com
A videoendoscopia por cápsula (VEC) ou a enterografia por tomografia computadorizada/ressonância magnética do intestino delgado deve ser iniciada aos 8 anos de idade (ou antes, se o paciente for sintomático). A endoscopia por cápsula é segura para uso em indivíduos com SPJ e polipose do intestino delgado que não apresentam sintomas obstrutivos. Se houver preocupação relativa à retenção de cápsula, uma cápsula biodegradável deve ser utilizada. Caso não sejam encontrados pólipos no exame inicial, as diretrizes dos EUA recomendam que a vigilância do intestino delgado seja restabelecida aos 18 anos de idade e continue a cada 2-3 anos ao longo da vida, enquanto as diretrizes europeias recomendam repetir a vigilância a cada 3 anos desde o início.
A endoscopia digestiva alta (EDA) e a colonoscopia para investigação de pólipos gastrointestinais superiores e colorretais devem ser realizadas a partir dos 8 anos de idade (ou antes, se o paciente for sintomático). Se forem encontrados pólipos, ambos os exames são repetidos a cada 2-3 anos; se nenhum pólipo for detectado, um exame basal subsequente é realizado aos 18 anos de idade e a cada 2-3 anos a partir de então.
Câncer de mama
O risco de câncer de mama ao longo da vida em mulheres com SPJ varia de 32% a 54%, chegando a 40% a 85%, o que é semelhante às taxas observadas com mutações BRCA-1 e BRCA-2.[18]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.
https://www.gastrojournal.org/article/S0016-5085(22)00151-2/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/35487791?tool=bestpractice.com
[22]National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal, endometrial, and gastric [internet publication].
https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1436
A US Multi-Society Task Force on Colorectal Cancer recomenda o autoexame da mama mensal a partir dos 18 anos de idade, exame da mama clínico a cada dois anos a partir dos 25 anos de idade, ressonância nuclear magnética (RNM) da mama anual a partir dos 25 a 29 anos, e mamografia com consideração de tomossíntese (mamografia tridimensional) alternando a cada 6 meses com RNM da mama com contraste a partir dos 30 a 75 anos.[18]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.
https://www.gastrojournal.org/article/S0016-5085(22)00151-2/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/35487791?tool=bestpractice.com
A National Comprehensive Cancer Network (NCCN) recomenda mamografia e RNM anualmente, a partir dos 30 anos de idade aproximadamente.[22]National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal, endometrial, and gastric [internet publication].
https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1436
Dada a variação no risco de câncer de mama ao longo da vida, as diretrizes diferem quanto à frequência dos exames clínicos das mamas, com a US Multi-Society Task Force on Colorectal Cancer recomendando-os a cada 6 meses a partir dos 25 anos e a NCCN recomendando-os a cada 6-12 meses a partir dos 30 anos.[18]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.
https://www.gastrojournal.org/article/S0016-5085(22)00151-2/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/35487791?tool=bestpractice.com
[22]National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal, endometrial, and gastric [internet publication].
https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1436
A mastectomia profilática pode ser considerada de acordo com o caso.[18]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.
https://www.gastrojournal.org/article/S0016-5085(22)00151-2/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/35487791?tool=bestpractice.com
Câncer de pâncreas
O câncer de pâncreas é a terceira neoplasia maligna mais comum (depois do câncer de mama e colorretal) em indivíduos com SPJ, com risco vitalício de 11% a 36% de adenocarcinoma ductal pancreático.[18]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.
https://www.gastrojournal.org/article/S0016-5085(22)00151-2/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/35487791?tool=bestpractice.com
[22]National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal, endometrial, and gastric [internet publication].
https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1436
Recomenda-se vigilância por ultrassonografia endoscópica (USE) e/ou RNM ou colangiopancreatografia por ressonância magnética (CPRM). O International Cancer of the Pancreas Screening Consortium recomenda exames de imagem do pâncreas a cada 1-2 anos a partir dos 40 anos.[18]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.
https://www.gastrojournal.org/article/S0016-5085(22)00151-2/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/35487791?tool=bestpractice.com
[41]Canto MI, Harinck F, Hruban RH, et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 Mar;62(3):339-47.
https://gut.bmj.com/content/62/3/339.long
http://www.ncbi.nlm.nih.gov/pubmed/23135763?tool=bestpractice.com
A NCCN recomenda exames de imagem anuais do pâncreas com USE ou RNM/CPRM a partir dos 30-35 anos de idade (com início mais precoce se houver história familiar de câncer de pâncreas; a NCCN sugere iniciar 10 anos antes da idade de início na família).[22]National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal, endometrial, and gastric [internet publication].
https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1436
A US Multi-Society Task Force on Colorectal Cancer também recomenda exames de imagem pancreática anuais a partir dos 35 anos de idade.[18]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.
https://www.gastrojournal.org/article/S0016-5085(22)00151-2/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/35487791?tool=bestpractice.com
Cânceres ginecológicos
Os riscos vitalícios para câncer de ovário, útero e cervical são estimados em 21%, 9% e 10% a 23%, respectivamente.[18]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.
https://www.gastrojournal.org/article/S0016-5085(22)00151-2/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/35487791?tool=bestpractice.com
As diretrizes diferem em relação à idade recomendada para iniciar o rastreamento com exame pélvico, esfregaço cervical e ultrassonografia transvaginal; a NCCN recomenda o início aproximadamente aos 18-20 anos, e outras sociedades recomendam o início mais tardiamente, aos 25 anos.[8]Syngal S, Brand RE, Church JM, et al; American College of Gastroenterology. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015 Feb;110(2):223-62.
https://journals.lww.com/ajg/Fulltext/2015/02000/ACG_Clinical_Guideline__Genetic_Testing_and.8.aspx
http://www.ncbi.nlm.nih.gov/pubmed/25645574?tool=bestpractice.com
[22]National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal, endometrial, and gastric [internet publication].
https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1436
Quase todos os cânceres de ovário em pacientes com SPJ são tumores do cordão sexual com túbulos anulares (TCSTA). Tais tumores podem causar menstruação irregular e puberdade precoce. Recomenda-se exame físico anual para verificar a puberdade precoce, começando no momento do diagnóstico, bem como exame pélvico anual e ultrassonografia pélvica a partir dos 18-20 anos de idade.[8]Syngal S, Brand RE, Church JM, et al; American College of Gastroenterology. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015 Feb;110(2):223-62.
https://journals.lww.com/ajg/Fulltext/2015/02000/ACG_Clinical_Guideline__Genetic_Testing_and.8.aspx
http://www.ncbi.nlm.nih.gov/pubmed/25645574?tool=bestpractice.com
[22]National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal, endometrial, and gastric [internet publication].
https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1436
Para vigilância de câncer uterino, recomenda-se realizar um exame pélvico anual a partir dos 18 a 25 anos. O American College of Gastroenterology (ACG) recomenda a ultrassonografia transvaginal anual a partir dos 25 anos de idade.[8]Syngal S, Brand RE, Church JM, et al; American College of Gastroenterology. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015 Feb;110(2):223-62.
https://journals.lww.com/ajg/Fulltext/2015/02000/ACG_Clinical_Guideline__Genetic_Testing_and.8.aspx
http://www.ncbi.nlm.nih.gov/pubmed/25645574?tool=bestpractice.com
A NCCN não recomenda o rastreamento por ultrassonografia de rotina, mas aconselha exame pélvico anual dos 18 aos 20 anos e biópsia do endométrio na presença de sangramento anormal.[22]National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal, endometrial, and gastric [internet publication].
https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1436
Uma grande proporção de câncer cervical em pacientes com SPJ é adenocarcinoma com desvio mínimo (antes conhecido como adenoma maligno), um adenocarcinoma raro e bem diferenciado de difícil detecção com citologia em meio líquido e que tem prognóstico desfavorável. As diretrizes recomendam o exame pélvico anual e a citologia em meio líquido a partir dos 18-25 anos de idade (novamente, as diretrizes diferem em relação à idade em que os exames devem ser iniciados).[8]Syngal S, Brand RE, Church JM, et al; American College of Gastroenterology. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015 Feb;110(2):223-62.
https://journals.lww.com/ajg/Fulltext/2015/02000/ACG_Clinical_Guideline__Genetic_Testing_and.8.aspx
http://www.ncbi.nlm.nih.gov/pubmed/25645574?tool=bestpractice.com
[18]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.
https://www.gastrojournal.org/article/S0016-5085(22)00151-2/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/35487791?tool=bestpractice.com
[22]National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal, endometrial, and gastric [internet publication].
https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1436
A NCCN também defende a consideração de uma histerectomia total após a mulher ter uma família completa.[22]National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal, endometrial, and gastric [internet publication].
https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1436
Câncer de testículo
Pacientes do sexo masculino com SPJ têm risco vitalício de 9% de desenvolver tumor de células de Sertoli, com idade média de 9 anos no diagnóstico.[18]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.
https://www.gastrojournal.org/article/S0016-5085(22)00151-2/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/35487791?tool=bestpractice.com
[22]National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal, endometrial, and gastric [internet publication].
https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1436
[39]MacFarland SP, Becktell K, Schneider KW, et al. Pediatric cancer screening in hereditary gastrointestinal cancer risk syndromes: an update from the AACR Childhood Cancer Predisposition Working Group. Clin Cancer Res. 2024 Oct 15;30(20):4566-71.
https://aacrjournals.org/clincancerres/article/30/20/4566/748802/Pediatric-Cancer-Screening-in-Hereditary
http://www.ncbi.nlm.nih.gov/pubmed/39190470?tool=bestpractice.com
Recomenda-se o exame testicular anual e a observação de alterações feminizantes, com uma ultrassonografia testicular de acompanhamento se forem detectadas anormalidades. A US Multi-Society Task Force on Colorectal Cancer recomenda o rastreamento desde o nascimento, enquanto a NCCN recomenda começar no momento do diagnóstico.[18]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.
https://www.gastrojournal.org/article/S0016-5085(22)00151-2/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/35487791?tool=bestpractice.com
[22]National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal, endometrial, and gastric [internet publication].
https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1436
Câncer pulmonar
O risco vitalício estimado de câncer pulmonar em pacientes com SPJ é de 7% a 17%.[8]Syngal S, Brand RE, Church JM, et al; American College of Gastroenterology. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015 Feb;110(2):223-62.
https://journals.lww.com/ajg/Fulltext/2015/02000/ACG_Clinical_Guideline__Genetic_Testing_and.8.aspx
http://www.ncbi.nlm.nih.gov/pubmed/25645574?tool=bestpractice.com
As diretrizes diferem em relação às recomendações de vigilância. A US Multi-Society Task Force on Colorectal Cancer e a NCCN recomendam simplesmente educar os pacientes sobre os sintomas e o abandono do hábito de fumar.[18]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.
https://www.gastrojournal.org/article/S0016-5085(22)00151-2/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/35487791?tool=bestpractice.com
[22]National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal, endometrial, and gastric [internet publication].
https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1436
No entanto, o American College of Chest Physicians, a American Society of Clinical Oncology e a American Cancer Society aconselham a tomografia computadorizada (TC) de baixa dose anualmente dos 55 aos 74 anos (com base no nível de risco cumulativo em pacientes com SPJ, que é semelhante a pessoas com história de tabagismo de mais de 30 maços-ano que abandonaram o hábito de fumar por 10-15 anos).[18]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.
https://www.gastrojournal.org/article/S0016-5085(22)00151-2/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/35487791?tool=bestpractice.com
As evidências que dão suporte a essas recomendações não são robustas. Na opinião dos autores, essa vigilância deve ser individualizada com base no fenótipo, na idade e incidência esperadas da doença, e na história familiar.[Figure caption and citation for the preceding image starts]: Pólipo hamartomatoso identificado no intestino delgado por endoscopia por cápsulaDo acervo de Dra. Carol A. Burke, usado com permissão [Citation ends].