Cargando…

Intussusception reveals MUTYH-associated polyposis syndrome and colorectal cancer: a case report

BACKGROUND: We are reporting a rare case of MUTYH-associated polyposis, a colorectal cancer hereditary syndrome, diagnosticated after an intussusception. Colorectal cancer is an important cause of cancer related mortality that can be manifested by an intussusception, a rare occurrence in adults and...

Descripción completa

Detalles Bibliográficos
Autores principales:	de Mesquita, Gustavo Heluani Antunes, Carvalho, Bárbara Justo, de Almeida Medeiros, Kayo Augusto, Nii, Fernanda, Martines, Diego Ramos, Pipek, Leonardo Zumerkorn, Jardim, Yuri Justi, Waisberg, Daniel Reis, Obara, Marcos Takeo, Sitnik, Roberta, Meyer, Alberto, Mangueira, Cristóvão Luis Pitangueiras
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451307/ https://www.ncbi.nlm.nih.gov/pubmed/30953464 http://dx.doi.org/10.1186/s12885-019-5505-8

Ejemplares similares

Large primary hepatic gastrinoma in young patient treated with trisegmentectomy: A case report and review of the literature
por: Pipek, Leonardo Zumerkorn, et al.
Publicado: (2018)

Laparoscopically excised retroperitoneal presacral Schwannoma: atypical pre and postoperative manifestations – case report
por: Carvalho, Bárbara Justo, et al.
Publicado: (2019)

Treating incarcerated inguinal hernias with TEP is a viable option for experienced surgeons
por: de Almeida Medeiros, Kayo Augusto, et al.
Publicado: (2020)

Survival curve identifies critical period for postoperative mortality in cardiac patients undergoing emergency general surgery
por: Martines, Diego Ramos, et al.
Publicado: (2020)

Instrument to evaluate the knowledge of patient with cirrhosis on his disease: construction and validity
por: Stelmach, Mariana, et al.
Publicado: (2021)

MUTYH: Not just polyposis
por: Curia, Maria Cristina, et al.
Publicado: (2020)

MUTYH Associated Polyposis (MAP)
por: Poulsen, M.L.M, et al.
Publicado: (2008)

Component separation of abdominal wall with intraoperative botulinum A presents satisfactory outcomes in large incisional hernias: a case report
por: Oliveira, Lucas Torres, et al.
Publicado: (2017)

Adenoma development in familial adenomatous polyposis and MUTYH‐associated polyposis: somatic landscape and driver genes
por: Rashid, Mamunur, et al.
Publicado: (2015)

Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary
por: Papp, Janos, et al.
Publicado: (2015)

Hereditary Colorectal Tumors: A Literature Review on MUTYH-Associated Polyposis
por: Kantor, Micaella, et al.
Publicado: (2017)

Increased prevalence of Barrett’s esophagus in patients with MUTYH-associated polyposis (MAP)
por: Daans, Ceranza G., et al.
Publicado: (2020)

Complete Response to Immunotherapy in a Patient with MUTYH-Associated Polyposis and Gastric Cancer: A Case Report
por: Mathias-Machado, Maria Cecilia, et al.
Publicado: (2023)

Do NSAIDs suppress polyps in MUTYH-associated polyposis? A case report
por: Sturgeon, Duveen, et al.
Publicado: (2011)

T.03.9 MUTYH-ASSOCIATED POLYPOSIS: IS TIME TO CHANGE UPPER GI SURVEILLANCE?
por: Sanchez-Mete, L., et al.
Publicado: (2022)

Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas
por: Nielsen, Maartje, et al.
Publicado: (2009)

MUTYH the base excision repair gene family member associated with colorectal cancer polyposis
por: Kashfi, Seyed Mohammad Hossein, et al.
Publicado: (2013)

Survival of MUTYH-Associated Polyposis Patients With Colorectal Cancer and Matched Control Colorectal Cancer Patients
por: Nielsen, Maartje, et al.
Publicado: (2010)

Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes
por: Forte, Giovanna, et al.
Publicado: (2022)

Seizure control in mono- and combination therapy in a cohort of patients with Idiopathic Generalized Epilepsy
por: Pipek, Leonardo Zumerkorn, et al.
Publicado: (2022)

MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors
por: Venesio, Tiziana, et al.
Publicado: (2012)

Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome
por: Clendenning, Mark, et al.
Publicado: (2013)

Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants
por: Dell’Elice, Anastasia, et al.
Publicado: (2021)

ODP488 Incidental papillary thyroid cancer found after hemi-thyroidectomy in man with MUTYH-associated polyposis
por: Yuen, Alexa, et al.
Publicado: (2022)

Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition
por: Aceto, Gitana Maria, et al.
Publicado: (2015)

Personalized medicine and the clinical laboratory
por: Pinho, João Renato Rebello, et al.
Publicado: (2014)

Adenine DNA Glycosylase Activity of 14 Human MutY Homolog (MUTYH) Variant Proteins Found in Patients with Colorectal Polyposis and Cancer
por: Goto, Masanori, et al.
Publicado: (2010)

An Individual with Both MUTYH-Associated Polyposis and Lynch Syndrome Identified by Multi-Gene Hereditary Cancer Panel Testing: A Case Report
por: Cohen, Stephanie A., et al.
Publicado: (2016)

Single molecule glycosylase studies with engineered 8-oxoguanine DNA damage sites show functional defects of a MUTYH polyposis variant
por: Nelson, Shane R, et al.
Publicado: (2019)

Association of MUTYH and colorectal cancer
por: Tenesa, A, et al.
Publicado: (2006)

Filiform Polyposis Secondary to Colonic Tuberculosis Presenting as Acute Colo-Colonic Intussusception
por: Heng, Jacob S., et al.
Publicado: (2015)

Colonic intussusception due to filiform polyposis of ulcerative colitis treated by endoscopic reduction
por: Ito, Kosuke, et al.
Publicado: (2022)

Base excision repair and the role of MUTYH
por: Kairupan, Carla, et al.
Publicado: (2007)

Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort
por: Khan, Nikhat, et al.
Publicado: (2017)

MUTYH as an Emerging Predictive Biomarker in Ovarian Cancer
por: Hutchcraft, Megan L., et al.
Publicado: (2021)

The Use of Flow Cytometry in Myelodysplastic Syndromes: A Review
por: Bento, Laiz Cameirão, et al.
Publicado: (2017)

Comparison of different laboratory tests in the evaluation of hemorrhagic risk of patients using rivaroxaban in the critical care setting: diagnostic accuracy study
por: Colombini, Marjorie Paris, et al.
Publicado: (2017)

MUTYH Gln324His gene polymorphism and genetic susceptibility for lung cancer in a Japanese population
por: Miyaishi, Aiko, et al.
Publicado: (2009)

Gastric fundus submucosa as a site for islets transplantation: An experimental study
por: de Mesquita, Gustavo Heluani Antunes, et al.
Publicado: (2018)

Genetic variants in MUTYH are not associated with endometrial cancer risk
por: Ashton, Katie A, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_6dpks3o7m3p554kqbvpdelorj5