11,714 results match your criteria Cronkhite-Canada Syndrome


[100 years Peutz-Jeghers syndrome].

Ned Tijdschr Geneeskd 2022 May 4;166. Epub 2022 May 4.

LUMC, afd. Maag-, Darm- en Leverziekten, Leiden.

In 2021 it was 100 years since drPeutz published his case report titled: 'a very remarkable case of familial polyposis of mucous membranes of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane'. This is the first description of the Peutz-Jeghers syndrome, which is named after him. Like Peutz already suggested a century ago, we know now that this is a genetic disorder (autosomal dominant) caused by mutations in the STK11 gene. Read More

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Sinonasal mixed transitional epithelial-seromucinous papillary glandular neoplasms with BRAF p.V600E mutations - sinonasal analogues to the sialadenoma papilliferum family tumors.

Virchows Arch 2022 Jun 18. Epub 2022 Jun 18.

Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

Sinonasal non-intestinal type adenocarcinoma (non-ITAC) is a heterogeneous category that may benefit from improved taxonomy. With the recognition that most non-ITAC are phenotypically seromucinous, stratification may be improved by applying salivary type morphologic criteria and molecular findings. We report two cases of papillary seromucinous adenocarcinoma with sinonasal papilloma-like surface components that show histologic and molecular features analogous to the salivary sialadenoma papilliferum family of tumors. Read More

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Molecular epidemiological study of germline APC variant associated with hereditary gastrointestinal polyposis in dogs: current frequency in Jack Russell Terriers in Japan and breed distribution.

BMC Vet Res 2022 Jun 18;18(1):230. Epub 2022 Jun 18.

Laboratory of Veterinary Pathology, Joint Department of Veterinary Medicine, Faculty of Applied Biological Sciences, Gifu University, 1-1 Yanagido, Gifu, 501-1193, Japan.

Background: Cases of gastrointestinal (GI) neoplastic polyps in Jack Russell Terriers (JRTs) have increased in Japan since the late 2000s. We recently demonstrated that JRTs with GI polyps heterozygously harbor an identical germline variant in the adenomatous polyposis coli (APC) gene, c.[462_463delinsTT]; therefore, this is an autosomal dominant hereditary disease. Read More

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Pediatric hematochezia caused by intestinal ganglioneuromatous polyposis.

J Pediatr Gastroenterol Nutr 2022 Jun 13. Epub 2022 Jun 13.

Department of Gastroenterology, Women's & Children's Hospital, South Australia School of Paediatrics, University of Adelaide, South Australia.

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Oral administration of TRAIL-inducing small molecule ONC201/TIC10 prevents intestinal polyposis in the mouse model.

Am J Cancer Res 2022 15;12(5):2118-2131. Epub 2022 May 15.

Center for Cancer Prevention and Drug Development, Hem-Onc Section, Department of Medicine, Stephenson Cancer Center, University of Oklahoma Health Sciences Center Oklahoma City, OK, USA.

Colorectal cancer (CRC) incidence is rising globally. Hence, preventing this disease is a high priority. With this aim, we determined the CRC prevention potential of the TRAIL-inducing small molecule ONC201/TIC10 using a preclinical model representing high-risk familial adenomatous polyposis (FAP) patients, mice. Read More

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Endoscopic Therapy of Small Bowel Polyps by Single-Balloon Enteroscopy in Patients with Peutz-Jeghers Syndrome.

Int J Clin Pract 2022 1;2022:7849055. Epub 2022 Feb 1.

Department of Gastroenterology, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou, Zhejiang, China.

Background: Little is known about the efficacy and safety of single-balloon enteroscopy (SBE) in patients with Peutz-Jeghers syndrome (PJS). The aim of this study was to assess the efficacy and safety of SBE for the treatment of small bowel polyps in patients with PJS.

Methods: We conducted a single-center observational study, which included all patients diagnosed with PJS who underwent SBE for polypectomy between January 2018 and March 2021. Read More

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The genomic landscape of Cronkhite-Canada syndrome: possible clues for pathogenesis.

J Dig Dis 2022 Jun 9. Epub 2022 Jun 9.

Department of Gastroenterology, Chinese Academy of Medical Sciences, Peking Union Medical College Hospital, Beijing, China.

Objectives: Cronkhite-Canada syndrome (CCS) is a rare hamartomatous polyposis syndrome (HPS) with a proposed association with chronic autoimmune inflammation. To date, the genetic background in patients with CCS remains less investigated. This study set out to explore the genomic landscape of CCS. Read More

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A large family with MSH3-related polyposis.

Fam Cancer 2022 Jun 8. Epub 2022 Jun 8.

Amsterdam UMC location University of Amsterdam, Department of Human Genetics, Meibergdreef 9, 1105 AZ, Amsterdam, the Netherlands.

Biallelic MSH3 germline variants are a rare cause of adenomatous polyposis as yet reported in two small families only. We describe the phenotype of a third family, the largest thus far, with adenomatous polyposis related to compound heterozygous MSH3 pathogenic variants. The index patient was a 55-years old male diagnosed with rectal cancer and adenomatous polyposis (cumulatively 52 polyps), with a family history of colorectal polyposis with unknown cause. Read More

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Polygenic early-onset colorectal cancer in pediatric patients.

Pediatr Blood Cancer 2022 Jun 7:e29790. Epub 2022 Jun 7.

Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

Colorectal cancer in the pediatric population is a rare but transpirable phenomenon. The occurrence should prompt suspicion for underlying genetic mutations in the setting of a hereditary cancer predisposition syndrome. In this series, we outline three pediatric patients with colonic adenocarcinoma who were found to have one or more germline mutations. Read More

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Continuing Medical Education Questions: June 2022.

Authors:
Akwi W Asombang

Am J Gastroenterol 2022 Jun 17;117(6):844. Epub 2022 Feb 17.

Massachusetts General Hospital, Boston, Massachusetts.

Article Title: Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer. Read More

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A Rare Case of Diffuse Nodular Lymphoid Hyperplasia With Rectal Involvement.

Cureus 2022 May 2;14(5):e24671. Epub 2022 May 2.

Gastroenterology, Nassau University Medical Center, East Meadow, USA.

Nodular lymphoid hyperplasia (NLH) is characterized by the growth of multiple discrete small submucosal nodules specifically confined to the lamina propria and superficial submucosa layers of the intestinal wall. Gastric and rectal involvement of NLH is exceedingly rare. To date, few case reports have described diffuse NLH presenting with multiple submucosal lymphomatous polyposis occurring in the rectum. Read More

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An innate IL-25-ILC2-MDSC axis creates a cancer-permissive microenvironment for mutation-driven intestinal tumorigenesis.

Sci Immunol 2022 Jun 3;7(72):eabn0175. Epub 2022 Jun 3.

MRC Laboratory of Molecular Biology, Cambridge CB2 0QH, UK.

Interleukin-25 (IL-25) and group 2 innate lymphoid cells (ILC2s) defend the host against intestinal helminth infection and are associated with inappropriate allergic reactions. IL-33-activated ILC2s were previously found to augment protective tissue-specific pancreatic cancer immunity. Here, we showed that intestinal IL-25-activated ILC2s created an innate cancer-permissive microenvironment. Read More

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A rare cause of mechanical intestinal obstruction due to small bowel intussusception: 'A solitary Peutz-Jeghers type hamartomatous polyp'.

Ulus Travma Acil Cerrahi Derg 2022 Jun;28(6):879-883

Department of General Surgery, Trakya University Faculty of Medicine, Edirne-Turkey.

Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant disorder which is characterized by hyperpigmentation in mucocutaneous membranes and hamartomatous polyps in the gastrointestinal tract (GIT). Common complications reported in patients with PSJ are bleeding and mechanical intestinal obstruction due to the hamartomatous polyps. There is also an increased risk of gastrointestinal and extra-intestinal malignancies in patients with PJS. Read More

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Orbital osteomas associated with Gardner's syndrome: a case presentation and review of literature.

Orbit 2022 Jun 2:1-6. Epub 2022 Jun 2.

Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia, USA.

Gardner syndrome (GS) is a rare genetic disorder characterized by numerous intestinal colon polyps with various extraintestinal manifestations. Osteomas are a known extracolonic manifestation of GS and can affect the orbit, as seen in our patient, as well as 13 other cases documented in literature. Excision of large orbital osteomas can be successful with a multi-disciplinary approach as presented in this article. Read More

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The Mutation Spectrum and Two Novel Point Mutations in the APC Gene in Vietnamese Patients with Familial Adenomatous Polyposis.

Asian Pac J Cancer Prev 2022 05 1;23(5):1517-1522. Epub 2022 May 1.

Training and Scientific Research Department, University Medical Center, University of Medicine and Pharmacy at Ho Chi Minh City, Vietnam.

Background: Familial adenomatous polyposis (FAP) is a hereditary disorder primarily caused by germline mutations in the APC gene. The most common type of mutation in the APC gene is point mutation, while deletion mutation is much less frequent. The current study was conducted to investigate the mutation spectrum of the APC gene in Vietnamese FAP patients. Read More

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Cronkhite-Canada Syndrome: A Case Report.

JNMA J Nepal Med Assoc 2022 May 5;60(249):473-477. Epub 2022 May 5.

Department of Public Health and Community Programs, Dhulikhel Hospital, Kathmandu University School of Medical Sciences, Dhulikhel, Kavre, Nepal.

Cronkhite-Canada Syndrome is a rare disease characterised by diffuse gastrointestinal polyposis, abdominal pain, diarrhoea, cutaneous and mucosal hyperpigmentation, alopecia, and onychodystrophy. Here we report a case of a 40-year-old female with Cronkhite-Canada Syndrome, who presented with the complaints of diffuse abdominal pain, blood mixed stools, and diarrhoea associated with tenesmus. She had nausea and reduced appetite and lost 10 kgs in 3 months. Read More

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Oxidative Damage in Sporadic Colorectal Cancer: Molecular Mapping of Base Excision Repair Glycosylases MUTYH and hOGG1 in Colorectal Cancer Patients.

Int J Mol Sci 2022 May 20;23(10). Epub 2022 May 20.

Department of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences, Videnska 1083, 142 00 Prague, Czech Republic.

Oxidative stress, oxidative DNA damage and resulting mutations play a role in colorectal carcinogenesis. Impaired equilibrium between DNA damage formation, antioxidant status, and DNA repair capacity is responsible for the accumulation of genetic mutations and genomic instability. The lesion-specific DNA glycosylases, e. Read More

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Butyrate Inhibits Colorectal Cancer Cell Proliferation through Autophagy Degradation of β-Catenin Regardless of and β-Catenin Mutational Status.

Biomedicines 2022 May 13;10(5). Epub 2022 May 13.

Laboratory of Molecular Pathology, Department of Health Sciences, University of Piemonte Orientale "A. Avogadro", Via Solaroli 17, 28100 Novara, Italy.

Colorectal cancer (CRC) pathogenesis is mainly driven by alterations in WNT signaling, which results in altered transcriptional activity of β-Catenin. Mutations in (Adenomatous Polyposis Coli) are reflected in β-Catenin hyperactivation and loss of proliferation control. Certain intestinal bacteria metabolites have shown the ability to limit CRC cell proliferation and CRC pathogenesis. Read More

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Rare case of multiple and perforating pilomatrixomas in a young girl with lymphovascular malformation reveals a potential new disease association.

BMJ Case Rep 2022 May 25;15(5). Epub 2022 May 25.

Department of Plastic Surgery, NHS Tayside, Dundee, UK.

This report details the case of a girl of primary school age who was referred to our plastic surgery department with an ulcerating lesion on the nape of her neck. A firm mass was palpable in the underlying subcutaneous tissue. This lesion was accompanied by two smaller firm nodules: one in the adjacent tissue and another in the left preauricular region. Read More

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Complicaciones Asociadas Al Reservorio Ileal En Colitis Ulcerativa Versus Poliposis Familiar Adenomatosa: Impacto En La Calidad De Vidadel Paciente.

Gastroenterol Hepatol 2022 May 20. Epub 2022 May 20.

Unidad de Enfermedad Inflamatoria Intestinal. Servicio de Aparato Digestivo. Hospital Clínico Universitario de Santiago de Compostela. Profesor Asociado de Digestivo de la Universidad De Santiago de Compostela. Presidente de GETECCU, Colombia.

Background: proctocolectomy with ileal reservoir is the surgical procedure of choice for patients with ulcerative colitis and familial adenomatous polyposis.

Objectives: To evaluate long-term postoperative complications (1994-2019) in patients operated for familial adenomatous polyposis (FAP) and ulcerative colitis (UC) and the degree of satisfaction with the procedure.

Methods: Observational study based on the analysis of a retrospective database with prospective follow-up in 115 consecutive patients: 79 with UC and 36 with FAP. Read More

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Hereditary Colorectal Cancer.

Hematol Oncol Clin North Am 2022 06 13;36(3):429-447. Epub 2022 May 13.

Division of Gastroenterology, Hepatology & Nutrition, The Ohio State University Wexner Medical Center, 395 W 12th Avenue, Second Floor, Columbus, OH 43210, USA. Electronic address: https://twitter.com/docstanich.

Around 10% to 16% of colorectal cancer patients have a pathogenic variant in a cancer susceptibility gene. Some of these variants are in cancer genes that are associated with colorectal cancer while others are not. The hereditary colorectal cancer syndromes can be divided into two major categories, the nonpolyposis and the polyposis conditions. Read More

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Management of the malignant colorectal polyp.

Curr Probl Surg 2022 05 10;59(5):101124. Epub 2022 Feb 10.

Department of Surgery, Healthcare Policy and Research, New York-Presbyterian/Weill Cornell Medicine, New York, NY. Electronic address:

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[A case of Peutz-Jeghers syndrome that developed triple cancers during the course].

Nihon Shokakibyo Gakkai Zasshi 2022 ;119(5):446-451

Department of Gastroenterology and Hepatology, Okayama University Hospital.

At the time of colon polyp follow-up, a 46-year-old Japanese woman with a history of invagination, colon polyps, cervical cancer, and breast cancer was suspected of Peutz-Jeghers syndrome and referred. Multiple polyposes of the jejunum were discovered by capsule endoscopy and double-balloon endoscopy, and the resected specimen was diagnosed with hamartoma. During the follow-up, advanced pancreatic cancer-derived from IPMN developed. Read More

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[A case of juvenile gastric polyposis with gastric cancer successfully treated by laparoscopic total gastrectomy -review of 36 reported cases in Japan].

Nihon Shokakibyo Gakkai Zasshi 2022 ;119(5):438-445

Department of Surgery, Yodogawa Christian Hospital.

A 43-year-old woman was suffering from epigastric pain. Her gastroscopy revealed polyposis of the stomach, and her biopsy revealed a hyperplastic polyp. During the 18-month follow-up, the polyps proliferated, and the patient was referred to our institute for further investigation and treatment. Read More

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Lung cancer as a predominant feature in a patient with Peutz-Jeghers syndrome: Case report.

Thorac Cancer 2022 Jun 11;13(12):1862-1865. Epub 2022 May 11.

Laboratory of Molecular Oncology, Hellenic Foundation for Cancer Research/Aristotle University of Thessaloniki, Thessaloniki, Greece.

Peutz-Jeghers syndrome (PJS) is characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyposis, which can lead to intussusception. PJS patients face high lifetime risks for various cancer types, with the majority of patients being diagnosed with tumors along the gastrointestinal tract. Herein, we present the case of a 34-year-old man who carried a germline STK11 pathogenic variant, while lacking the cardinal features of PJS syndrome. Read More

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Sporadic foveolar-type adenoma in gastric body/antrum junction with gastritis cystica profunda.

BMC Gastroenterol 2022 May 4;22(1):221. Epub 2022 May 4.

Pathology of Department, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100021, China.

Background: Sporadic gastric foveolar-type adenomas are extremely rare and are usually small, flat or slightly raised lesions that occur in the oxyntic mucosa.

Case Presentation: We reported here a case of a 70-year-old female with a sporadic gastric foveolar-type adenoma occurring in the mucosa at the junction of the gastric body/antrum. The adenoma was a protruding lesion of 2 × 1. Read More

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Desmoid tumors located in the abdomen or associated with adenomatous polyposis: French intergroup clinical practice guidelines for diagnosis, treatment, and follow-up (SNFGE, FFCD, GERCOR, UNICANCER, SFCD, SFED, SFRO, ACHBT, SFR).

Dig Liver Dis 2022 06 1;54(6):737-746. Epub 2022 May 1.

Department of Digestive Oncology, CHU Reims, Reims, France.

Introduction: Desmoid tumor (DT) of the abdomen is a challenging and rare disease. The level of evidence available to document their treatment is relatively low, however, recent publications of prospective studies have allowed to precise their management.

Methods: This document is a summary of the French intergroup guidelines realized by all French medical and surgical societies involved in the management of DT located in the abdomen or associated with adenomatous polyposis. Read More

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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 26;162(7):2063-2085. Epub 2022 Apr 26.

Veterans Affairs Medical Center, White River Junction, Vermont; Geisel School of Medicine at Dartmouth, Hanover, New Hampshire.

The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. Read More

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Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the U.S. Multi-Society Task Force on Colorectal Cancer.

Gastrointest Endosc 2022 Jun 26;95(6):1025-1047. Epub 2022 Apr 26.

Veterans Affairs Medical Center, White River Junction, Vermont; Geisel School of Medicine at Dartmouth, Hanover, New Hampshire.

The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. Read More

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