Small Intestinal Involvement and Genotype-Phenotype Correlation in Familial Adenomatous Polyposis

Tanaka, Kumiko; Sato, Yasushi; Ishikawa, Hideki; Muguruma, Naoki; Teramae, Satoshi; Takeuchi, Yoji; Mitsui, Yasuhiro; Okamoto, Koichi; Miyata, Hiroshi; Bando, Yoshimi; Sonoda, Tomoko; Ohmiya, Naoki; Mutoh, Michihiro; Takayama, Tetsuji

doi:10.1016/j.tige.2021.10.001

Cited by 6 publications

(7 citation statements)

References 19 publications

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“…Of the 126 patients, the proportions of patients with desmoid tumor stage ≥III, number of FGPs ≥1000, multiple gastric neoplasms, gastric neoplasm with HGD, Spigelman stage ≥III, and severe colorectal polyposis were 3%, 16%, 21%, 12%, 41%, and 7%, respectively. With reference to previous reports on genotype–phenotype correlations of the APC gene, 18,19 patients with an APC pathogenic germline variant in codons 1398–1580 showed various severe phenotypes (Table 2). There were 10 FAP patients with a variant within this region.…”

Section: Resultsmentioning

confidence: 77%

“…As for duodenal lesions, we previously reported that APC pathogenic germline variants in codons 1251–1580 were significantly associated with a high number of small bowel polyps, including duodenal ones. 19 In subsequent investigations, there were no desmoid tumor and gastric lesions of severe phenotypes in patients with variants in codons 1250–1397 of Region D (Table S1 ). Then, in the current study, codons 1398–1580 were targeted for the identification of a genotype–phenotype correlation.…”

Section: Discussionmentioning

confidence: 95%

“…For duodenal and colorectal lesions, Spigelman stage of ≥III and severe colorectal polyposis upon the classification of the density of colorectal adenomas were defined as a severe phenotype. For the regionality of the APC pathogenic germline variant site, we referred to previous reports 18,19 . Based on these reports, APC genetic sites were divided into six regions.…”

Section: Methodsmentioning

confidence: 99%

“…For the regionality of the APC pathogenic germline variant site, we referred to previous reports. 18 , 19 Based on these reports, APC genetic sites were divided into six regions. Furthermore, we modified the regions from the results of the severe phenotype in the current study.…”

Section: Methodsmentioning

confidence: 99%

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Genotype–phenotype correlation for extracolonic aggressive phenotypes in patients with familial adenomatous polyposis

Shimamoto,

Takeuchi,

Ishiguro

et al. 2023

Cancer Science

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Familial adenomatous polyposis (FAP) patients develop various life‐threatening extracolonic comorbidities that appear individually or within a family. This diversity can be explained by the localization of the adenomatous polyposis coli (APC) variant, but few reports provide definitive findings about genotype–phenotype correlations. Therefore, we investigated FAP patients and the association between the severe phenotypes and APC variants. Of 247 FAP patients, 126 patients from 85 families identified to have APC germline variant sites were extracted. These sites were divided into six groups (Regions A to F), and the frequency of severe comorbidities was compared among the patient phenotypes. Of the 126 patients, the proportions of patients with desmoid tumor stage ≥III, number of FGPs ≥1000, multiple gastric neoplasms, gastric neoplasm with high‐grade dysplasia, and Spigelman stage ≥III were 3%, 16%, 21%, 12%, and 41%, respectively, while the corresponding rates were 30%, 50%, 70%, 50%, and 80% in patients with Region E (codons 1398–1580) variants. These latter rates were significantly higher than those for patients with variants in other regions. Moreover, the proportion of patients with all three indicators (desmoid tumor stage ≥III, number of FGPs ≥1000, and Spigelman stage ≥III) was 20% for those with variants in Region E and 0% for those with variants in other regions. Variants in Region E indicate aggressive phenotypes, and more intensive management is required.

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Section: Resultsmentioning

confidence: 77%

Section: Discussionmentioning

confidence: 95%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Genotype–phenotype correlation for extracolonic aggressive phenotypes in patients with familial adenomatous polyposis

Shimamoto,

Takeuchi,

Ishiguro

et al. 2023

Cancer Science

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“…Nos idosos, o principal motivo patológico, para se ter uma estomia intestinal, está frequentemente interligada a neoplasia maligna do reto, em especifico o câncer do colón retal. Contudo, há outros motivos que podem indicar a construção de uma estomia intestinal em idosos, e na população em geral, como: Diverticulite; Obstrução intestinal; Tumores abdominais e pélvicos; Doença intestinal; Trauma abdominal; Perfuração ou abscesso abdominal não traumático; Doença Inflamatória Intestinal; e Polipose Intestinal (Moraes et al, 2020;Tanaka et al, 2022).…”

Section: Categoria 6 -O Processo De Envelhecimento E O Impacto Do Est...unclassified

Interfaces das estomias intestinais nos ciclos de vida

Pedrosa,

Souza,

Ribeiro

et al. 2024

Braz. J. of Sci.

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O termo Qualidade de Vida apesar de não possuir uma definição consensual, se baseia na percepção individual de um completo bem-estar físico, mental e social que permeia um conceito dinâmico, amplo, subjetivo e polissêmico. O indivíduo estomizado necessita de cuidados pós-operatórios e ajuda nas tarefas do dia a dia, além do autocuidado e interações sociais para se manter psicologicamente e fisicamente saudável já que são inúmeras mudanças nos hábitos e rotina de vida. A partir dessa perspectiva, surge o seguinte questionamento para o estudo: Quais os impactos da estomia nos diferentes ciclos de vida? O objetivo dessa pesquisa foi analisar a repercussão da confecção de um estoma intestinal de pacientes em diferentes estágios da vida, colaborando para a atualização do conhecimento em múltiplas asserções. Trata-se de um estudo descritivo, qualitativo do tipo análise reflexiva, elaborado a partir revisão da literatura sobre as “interfaces das estomia intestinais nos ciclos de vida”. Para tanto, foi realizada uma revisão narrativa. Os estudos de revisão narrativa são publicações com a finalidade de descrever e discutir o estado da arte de um determinado assunto. Os resultados obtidos por meio da revisão de literatura permitem dizer que a qualidade de vida das pessoas com estomia é um aspecto fundamental para a sua saúde física, emocional e social. Em cada ciclo de vida, as pessoas estomizadas enfrentam desafios específicos que afetam a sua rotina e sua forma de se relacionar na sociedade. Por fim, é importante destacar que a qualidade de vida das pessoas com ostomias não é apenas uma questão de escolha do dispositivo ideal, mas também de acesso a cuidados de saúde adequados e de políticas públicas que garantam o acesso a dispositivos e materiais de qualidade. É importante que esses indivíduos estejam sempre sendo acompanhados por uma equipe multiprofissional, junto com uma rede de apoio familiar propiciando o autocuidado, e a manutenção de sua autoimagem.

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Genotype–phenotype correlation of small-intestinal polyps on small-bowel capsule endoscopy in familial adenomatous polyposis

Fukushi¹,

Yamada²,

gawa³

et al. 2023

Gastrointestinal Endoscopy

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Small Intestinal Involvement and Genotype-Phenotype Correlation in Familial Adenomatous Polyposis

Cited by 6 publications

References 19 publications

Genotype–phenotype correlation for extracolonic aggressive phenotypes in patients with familial adenomatous polyposis

Genotype–phenotype correlation for extracolonic aggressive phenotypes in patients with familial adenomatous polyposis

Interfaces das estomias intestinais nos ciclos de vida

Genotype–phenotype correlation of small-intestinal polyps on small-bowel capsule endoscopy in familial adenomatous polyposis

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