11,525 results match your criteria Familial Adenomatous Polyposis


Development of an Accessible Gene Expression Bioinformatics Pipeline to Study Driver Mutations of Colorectal Cancer.

Altern Lab Anim 2022 Jun 28:2611929221107546. Epub 2022 Jun 28.

Strathclyde Institute of Pharmacy and Biomedical Sciences, 3527University of Strathclyde, Glasgow, UK.

Colorectal cancer (CRC) is a global cause of cancer-related mortality driven by genetic and environmental factors which influence therapeutic outcomes. The emergence of next-generation sequencing technologies enables the rapid and extensive collection and curation of genetic data for each cancer type into clinical gene expression biobanks. We report the application of bioinformatics tools for investigating the expression patterns and prognostic significance of three genes that are commonly dysregulated in colon cancer: adenomatous polyposis coli (); B-Raf proto-oncogene (); and Kirsten rat sarcoma viral oncogene homologue (). Read More

View Article and Full-Text PDF

Multivalent Interaction of Beta-Catenin With its Intrinsically Disordered Binding Partner Adenomatous Polyposis Coli.

Front Mol Biosci 2022 8;9:896493. Epub 2022 Jun 8.

Department of Pharmacology, University of Cambridge, Cambridge, United Kingdom.

The Wnt signalling pathway plays key roles in cell proliferation, differentiation and fate decisions in embryonic development and maintenance of adult tissues, and the twelve Armadillo (ARM) repeat-containing protein β-catenin acts as the signal transducer in this pathway. Here we investigate the interaction between β-catenin's ARM repeat domain and the intrinsically disordered protein adenomatous polyposis coli (APC). APC is a giant multivalent scaffold that brings together the different components of the so-called "β-catenin destruction complex", which drives β-catenin degradation the ubiquitin-proteasome pathway. Read More

View Article and Full-Text PDF

Retroperitoneal desmoid tumor in a patient with familial adenomatous polyposis: A case report.

Radiol Case Rep 2022 Sep 17;17(9):2910-2914. Epub 2022 Jun 17.

Department of Radiology, Faculty of Medicine, Mohammed VI University Hospital, University Mohammed First, BP 4806 Oujda University 60049, Morocco.

Desmoid tumors are benign fibroblastic neoplasms, with locally invasive features and a tendency of recurrence. They are considered an aggressive non-metastatic fibromatosis. The retroperitoneal location is extremely rare. Read More

View Article and Full-Text PDF
September 2022

[Current management status of hereditary colorectal cancer].

Zhonghua Wei Chang Wai Ke Za Zhi 2022 Jun;25(6):546-551

Department of General Surgery, Beijing Chaoyang Hosptial, Capital Medical University, Beijing 100020, China.

Hereditary colorectal cancer accounts for approximately 5% of all colorectal cancer cases, mainly including familial adenomatous polyposis and Lynch syndrome. Total proctocolectomy plus ileal pouch-anal anastomosis and total colectomy plus ileorectal anastomosis are two major procedures for familial adenomatous polyposis, however, the exact impact of these two procedures on surgical efficacy, oncologic efficacy as well as functional results still remains uncertain. Segmental colectomy and total colectomy are two major procedures for Lynch syndrome, each of them both has advantages and disadvantages, and there still lacks a consensus about the optimal strategy because of the nature of retrospective study with a relatively insufficient evidence support. Read More

View Article and Full-Text PDF

Endoscopic Management of Adenomas in the Ileal Pouch and the Rectal Remnant after Surgical Treatment in Familial Adenomatous Polyposis.

J Clin Med 2022 Jun 20;11(12). Epub 2022 Jun 20.

Department of Endoscopy, Aichi Cancer Center Hospital, Nagoya 464-8681, Japan.

In patients with familial adenomatous polyposis (FAP), adenomas and even carcinomas may develop in the rectal remnant and the ileal pouch after surgical treatment. The aim of this study was to evaluate the outcome of endoscopic management in patients with FAP. The main outcome measurements were the appearance of secondary cancer, complications, and the need for additional surgery. Read More

View Article and Full-Text PDF

Equivalency of short-term perioperative outcomes after open, laparoscopic, and robotic ileal pouch anal anastomosis. Does procedure complexity override operative approach?

Surg Open Sci 2022 Jul 20;9:86-90. Epub 2022 May 20.

Department of Surgery, University of Iowa Carver College of Medicine, Iowa City, IA.

Background: Ileal pouch anal anastomosis is the treatment of choice for patients with chronic ulcerative colitis and familial adenomatous polyposis undergoing a proctocolectomy and desiring bowel continuity. It is a technically complex operation associated with significant morbidity and may be performed by an open, laparoscopic, or robotic approach. However, there is a paucity of data regarding the comparative perioperative outcomes between these 3 techniques outside of institutional studies. Read More

View Article and Full-Text PDF

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

View Article and Full-Text PDF

Statin Treatment as a Targeted Therapy for APC-Mutated Colorectal Cancer.

Front Oncol 2022 30;12:880552. Epub 2022 May 30.

Centre for Cancer Cell and Molecular Biology, Barts Cancer Institute, Queen Mary University of London, London, United Kingdom.

Background: Mutations in the tumor suppressor gene Adenomatous Polyposis Coli () are found in 80% of sporadic colorectal cancer (CRC) tumors and are also responsible for the inherited form of CRC, Familial adenomatous polyposis (FAP).

Methods: To identify novel therapeutic strategies for the treatment of mutated CRC, we generated a drug screening platform that incorporates a human cellular model of mutant CRC using CRISPR-cas9 gene editing and performed an FDA-approved drug screen targeting over 1000 compounds.

Results: We have identified the group of HMG-CoA Reductase (HMGCR) inhibitors known as statins, which cause a significantly greater loss in cell viability in the mutated cell lines and in mutated patient derived xenograft (PDX) models, compared to wild-type cells. Read More

View Article and Full-Text PDF

A lesion suspected of being a desmoid tumor in the context of familial adenomatous polyposis should be biopsied.

Dig Liver Dis 2022 Jun 12. Epub 2022 Jun 12.

Centre Oscar Lambret, 3 re Combemale, 59020 CEDEX Lille, France; Lille University, 1 avenue Eugène Avinée, Lille 59120, France. Electronic address:

View Article and Full-Text PDF

Microcystic stromal tumor of the ovary: a recurrent case with somatic CTNNB1 missense mutation.

Virchows Arch 2022 Jun 14. Epub 2022 Jun 14.

Department of Gynecology, National Cancer Center Hospital, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan.

Microcystic stromal tumors (MCSTs) of the ovary are rare sex cord-stromal tumors that are considered benign neoplasms because almost all cases display unilateral, localized lesions and have benign outcomes, except for one recurrent case with familial adenomatous polyposis and another initial metastatic case with a CTNNB1 mutation. We report herein a sporadic case that relapsed as intra-abdominal spread 9 years and 1 month after primary left salpingo-oophorectomy for torsion of the ovarian tumor pedicle. The tumor relapsed as multiple disseminations at the subabdominal wall, Douglas pouch, and omentum. Read More

View Article and Full-Text PDF

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

View Article and Full-Text PDF

Ileoanal pouch-related fistulae: A systematic review with meta-analysis on incidence, treatment options and outcomes.

Dig Liver Dis 2022 Jun 7. Epub 2022 Jun 7.

Department of Advanced Medical and Surgical Sciences, Università degli Studi della Campania "Luigi Vanvitelli", Naples, Italy.

Background: Ileoanal pouch related fistulae (PRF) are a complication of restorative proctocolectomy often requiring repeated surgical interventions and with a high risk of long-term recurrence and pouch failure.

Aims: To assess the incidence of PRF and to report on the outcomes of available surgical treatments.

Methods: A PRISMA-compliant systematic literature search for articles reporting on PRF in patients with inflammatory bowel diseases (IBD) or familial adenomatous polyposis (FAP) from 1985 to 2020. Read More

View Article and Full-Text PDF

RNA polymerase I inhibition induces terminal differentiation, growth arrest and vulnerability to senolytics in colorectal cancer cells.

Mol Oncol 2022 Jun 8. Epub 2022 Jun 8.

Experimental Visceral Surgery, Department of General, Visceral, Transplantation, Vascular and Pediatric Surgery (Department of Surgery I), University Hospital Würzburg, Germany.

Ribosomal biogenesis and protein synthesis are deregulated in most cancers, suggesting that interfering with translation machinery may hold significant therapeutic potential. Here we show that loss of the tumor suppressor adenomatous polyposis coli (APC), which constitutes the initiating event in the adenoma carcinoma sequence for colorectal cancer (CRC), induces expression of RNA polymerase I (RNAPOL1) transcription machinery and subsequently upregulates ribosomal DNA (rDNA) transcription. Targeting RNAPOL1 with a specific inhibitor, CX5461, disrupts nucleolar integrity and induces a disbalance of ribosomal proteins. Read More

View Article and Full-Text PDF

Evolving strategies for management of desmoid tumor.

Cancer 2022 Jun 7. Epub 2022 Jun 7.

Medical Oncology and Therapeutics Research, City of Hope Comprehensive Cancer Center, Duarte, California, USA.

Desmoid tumors (DTs) are rare soft tissue mesenchymal neoplasms that may be associated with impairments, disfigurement, morbidity, and (rarely) mortality. DT disease course can be unpredictable. Most DTs are sporadic, harboring somatic mutations in the gene that encodes for β-catenin, whereas DTs occurring in patients with familial adenomatous polyposis have germline mutations in the APC gene, which encodes for a protein regulator of β-catenin. Read More

View Article and Full-Text PDF

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

View Article and Full-Text PDF

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

View Article and Full-Text PDF

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

View Article and Full-Text PDF

Familial Adenomatous Polyposis (FAP) Presenting as Iron Deficiency Anemia in a 33-Year-Old Female: A Case Report.

Cureus 2022 Apr 29;14(4):e24603. Epub 2022 Apr 29.

Hematology/Oncology, Florida Cancer Specialists & Research Institute, Sebring, USA.

Iron deficiency anemia is a common clinical concern in women of reproductive age. It presents as microcytic anemia and can be due to a limited number of causes including bleeding, malabsorption, intravascular hemolysis, or a mechanical heart valve. Familial adenomatous polyposis (FAP) is an inherited autosomal dominant disorder due to mutation in the adenomatous polyposis coli () gene that can cause iron deficiency anemia due to GI malignancy, most notably colon cancer. Read More

View Article and Full-Text PDF

The importance of genetics for timing and extent of surgery in inherited colorectal cancer syndromes.

Surg Oncol 2022 Apr 13:101765. Epub 2022 Apr 13.

Division of Colorectal Surgery, Department of Surgery, The Ohio State Wexner Medical Center and The James Comprehensive Cancer Center, Columbus, OH, USA. Electronic address:

Approximately 5% of colorectal cancers arise within an inherited colorectal cancer syndrome, with known underlying genetic etiologies. These syndromes increase the risk of colorectal and extracolonic cancers. Identification of a specific genetic pathogenic variant defines the syndrome, and quantifies the elevated risks compared to the general population. Read More

View Article and Full-Text PDF

Computer-Aided Detection Improves Adenomas per Colonoscopy for Screening and Surveillance Colonoscopy: A Randomized Trial.

Gastroenterology 2022 May 25. Epub 2022 May 25.

Division of Gastroenterology, Department of Medicine, Mount Auburn Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Background & Aims: Colonoscopy for colorectal cancer screening is endoscopist dependent, and colonoscopy quality improvement programs aim to improve efficacy. This study evaluated the clinical benefit and safety of using a computer-aided detection (CADe) device in colonoscopy procedures.

Methods: This randomized study prospectively evaluated the use of a CADe device at 5 academic and community centers by US board-certified gastroenterologists (n = 22). Read More

View Article and Full-Text PDF

Phase II trial of weekly erlotinib dosing to reduce duodenal polyp burden associated with familial adenomatous polyposis.

Gut 2022 May 30. Epub 2022 May 30.

Gastroenterology and Hepatology, Mayo Clinic Minnesota, Rochester, Minnesota, USA

Importance: Patients with familial adenomatous polyposis (FAP) are at markedly increased risk for duodenal adenomas and cancer. Combination sulindac and erlotinib was previously shown to reduce duodenal polyp burden but was associated with a relatively high adverse event (AE) rate.

Objective: To evaluate if a once weekly dosing schedule for erlotinib intervention improves the AE profile, while still providing efficacy with respect to reduced polyp burden, in participants with FAP. Read More

View Article and Full-Text PDF

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

View Article and Full-Text PDF

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

View Article and Full-Text PDF

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

View Article and Full-Text PDF

A successful operation for giant intra-abdominal desmoid tumors associated with familial adenomatous polyposis: A case report.

Mol Clin Oncol 2022 Jun 6;16(6):107. Epub 2022 May 6.

Department of Surgery, Moriguchi Keijinkai Hospital, Moriguchi, Osaka 570-0021, Japan.

Desmoid tumors are benign proliferations of spindle cells originating in fibro-aponeurotic tissue. Many patients with familial adenomatous polyposis (FAP) die from desmoid tumors, which can arise spontaneously but often appear to be surgically induced by prophylactic colectomy. Desmoid tumors are the second most common cause of death in patients with FAP, second to colorectal cancer. Read More

View Article and Full-Text PDF

A specific upregulated lncRNA in colorectal cancer promotes cancer progression.

JCI Insight 2022 May 26. Epub 2022 May 26.

State Key Laboratory of Biotherapy and Cancer Center, West China Hospital, Sichuan University, Chengdu, China.

Long non-coding RNA (lncRNA) plays a crucial role in the pathogenesis of various diseases, including colorectal cancer (CRC). The gene mutations of Adenomatous polyposis coli (APC) were found in most colorectal cancer patients. They are functioned as an important inducer of tumorigenesis. Read More

View Article and Full-Text PDF

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

View Article and Full-Text PDF

Ileal reservoir-associated complications in ulcerative colitis versus familial adenomatous polyposis: Impact on patient quality of life.

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, Santiago de Compostela, A Coruña, España; Digestivo, Universidad de Santiago de Compostela, Santiago de Compostela, A Coruña, España; Grupo Español de Trabajo en Enfermedad de Crohn y Colitis Ulcerosa (GETECCU), Santiago de Compostela, A Coruña, España.

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

View Article and Full-Text PDF

Colon Tumors in Enterotoxigenic Bacteroides fragilis (ETBF)-Colonized Mice Do Not Display a Unique Mutational Signature but Instead Possess Host-Dependent Alterations in the APC Gene.

Microbiol Spectr 2022 Jun 19;10(3):e0105522. Epub 2022 May 19.

Department of Medicine, Johns Hopkins University School of Medicinegrid.471401.7, Baltimore, Maryland, USA.

Enterotoxigenic Bacteroides fragilis (ETBF) is consistently found at higher frequency in individuals with sporadic and hereditary colorectal cancer (CRC) and induces tumorigenesis in several mouse models of CRC. However, whether specific mutations induced by ETBF lead to colon tumor formation has not been investigated. To determine if ETBF-induced mutations impact the gene, and other tumor suppressors or proto-oncogenes, we performed whole-exome sequencing and whole-genome sequencing on tumors isolated after ETBF and sham colonization of and VC mice, as well as whole-genome sequencing of organoids cocultured with ETBF. Read More

View Article and Full-Text PDF