MutYH-associated polyposis

Тобоева, М. Х.; Shelygin, Yu. A.; Фролов, С. А.; Кузьминов, М.; Цуканов, А. С.

doi:10.26442/00403660.2019.02.000124

Cited by 6 publications

(1 citation statement)

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“…Upper gastrointestinal endoscopy revealed multiple diffused polyps located in the stomach and the duodenum, and colonoscopy showed the same extent polyps of varying sizes localized in the rectosigmoid region. The onset of small intestinal malignant tumors combined with upper and lower gastrointestinal tract polyps might suggest MUTYH-associated polyposis syndrome (MAP) or Lynch syndrome ( 11 , 12 ). Nevertheless, further physical examination revealed that the patient had macrocephaly, and dermatologic examination was remarkable ( Figure 3 ).…”

Section: Case Reportmentioning

confidence: 99%

Case Report: Duodenal Carcinoma in a 40-Year-Old Asian Man With Cowden Syndrome

et al. 2022

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IntroductionCowden syndrome is a rare autosomal dominant genetic disease associated with PTEN mutation and is mainly shown as systemic multisystem lesions. The incidence of adenocarcinoma of the duodenum with Cowden syndrome in Asian males is rare. We hereby describe the diagnosis, treatment, and prognosis of a patient with duodenal carcinoma and Cowden syndrome.Case DescriptionA 40-year-old Chinese man was hospitalized because of gastrointestinal hemorrhage and anemia due to infiltrating adenocarcinoma of the descending part of the duodenum. He also had typical signs of Cowden syndrome, such as multiple polyps of the gastrointestinal tract, macrocephaly, papilloma of the tongue, soles hyperkeratosis, and melanosis spots. After the pancreaticoduodenectomy (classic Whipple), the lesions revealed the presence of hamartomatoid polyps, and some of them mutated into non-mucinous adenocarcinoma (80%) and mucinous adenocarcinoma (20%). Further investigation showed a lack of PTEN protein expression in the duodenal neoplasm, and genetic analysis showed the mutation of p.E242fs in PTEN. The patient was followed up for 1 year. There was no appearance of recurrence or distant metastasis.ConclusionIt is suggested that we should pay more attention to the differential diagnosis of duodenal carcinoma combined with gastrointestinal polyps. If multiple gastrointestinal polyps with gastrointestinal bleeding are encountered, Cowden syndrome should be considered, and timely diagnosis and treatment should be implemented.

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Section: Case Reportmentioning

confidence: 99%

Case Report: Duodenal Carcinoma in a 40-Year-Old Asian Man With Cowden Syndrome

et al. 2022

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The State of Science and Innovation in Russia in 2014

Дежина

2015

SSRN Journal

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The review provides a detailed analysis of main trends in Russia's economy in 2014. The paper contains 6 big sections that highlight single aspects of Russia's economic development: the socio-political context; the monetary and credit spheres; financial sphere; the real sector; social sphere; institutional challenges. The paper employs a huge mass of statistical data that forms the basis of original computation and numerous charts. UDC 33(470+571)(066)"2014" BBC 65.9(2Рос)

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Large Rearrangements in Genes Responsible for Familial Adenomatous Polyposis, <i>MUTYH</i>-Associated Polyposis and Peutz–Jeghers Syndrome in Russian Patients

Логинова

Shelygin

Shubin

et al. 2023

Rossijskij žurnal gastroènterologii, gepatologii, koloproktolog

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Аim: to reveal the rate of large rearrangements in the genes responsible for familial adenomatous polyposis, MUTYH-associated polyposis and Peutz–Jeghers syndrome.Materials and methods. The MLPA method was used for identification of large rearrangements. A total number of 135 patients was included in the study: 83 patients with a clinical diagnosis of “familial adenomatous polyposis”, 18 — with suspected MUTYH-associated polyposis, and 34 — with a clinical diagnosis of “Peutz–Jeghers syndrome”.Results. Seven large deletions and one large duplication in the APC gene were identified in 83 patients with classic familial adenomatous polyposis, with rate of large rearrangements 9.6 % (8/83). In 18 patients with suspected MUTYH-associated polyposis, no large rearrangements were found in the MUTYH gene. Four large deletions in the STK11 gene (12 %, 4/34) were detected in 34 patients with Peutz–Jeghers syndrome.Conclusion. For the first time, the expediency of including the method of detecting large rearrangements in routine DNA test list for Russian patients with various hereditary polyposis syndromes is demonstrated. Routine use of MLPA method makes it possible to increase the total frequency of detection of pathogenic variants in the APC and STK11 genes above 90 %. At the same time, the need for searching of large rearrangements in the MUTYH gene were not justified.

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MutYH-associated polyposis

Cited by 6 publications

References 32 publications

Case Report: Duodenal Carcinoma in a 40-Year-Old Asian Man With Cowden Syndrome

Case Report: Duodenal Carcinoma in a 40-Year-Old Asian Man With Cowden Syndrome

The State of Science and Innovation in Russia in 2014

Large Rearrangements in Genes Responsible for Familial Adenomatous Polyposis, <i>MUTYH</i>-Associated Polyposis and Peutz–Jeghers Syndrome in Russian Patients

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