11,047 results match your criteria Cronkhite-Canada Syndrome


Silencing the intestinal GUCY2C tumor suppressor axis requires loss of heterozygosity.

Cancer Biol Ther 2020 Jun 28:1-7. Epub 2020 Jun 28.

Department of Pharmacology and Experimental Therapeutics, Sidney Kimmel Medical College at Thomas Jefferson University , Philadelphia, PA, USA.

Most sporadic colorectal cancer reflects acquired mutations in the adenomatous polyposis coli () tumor suppressor gene, while germline heterozygosity for mutant produces the autosomal dominant disorder Familial Adenomatous Polyposis (FAP) with a predisposition to colorectal cancer. In these syndromes, loss of heterozygosity (LOH) silences the remaining normal allele of , through an unknown mechanism, as the initiating step in transformation. Guanylyl cyclase C receptor (GUCY2C) and its hormones, uroguanylin and guanylin, have emerged as a key signaling axis opposing mutations driving intestinal tumorigenesis. Read More

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http://dx.doi.org/10.1080/15384047.2020.1779005DOI Listing

Wnt-driven LARGE2 mediates laminin-adhesive O-glycosylation in human colonic epithelial cells and colorectal cancer.

Cell Commun Signal 2020 Jun 25;18(1):102. Epub 2020 Jun 25.

German Cancer Research Center (DKFZ), Heidelberg, Germany.

Background: Wnt signaling drives epithelial self-renewal and disease progression in human colonic epithelium and colorectal cancer (CRC). Characterization of Wnt effector pathways is key for our understanding of these processes and for developing therapeutic strategies that aim to preserve tissue homeostasis. O-glycosylated cell surface proteins, such as α-dystroglycan (α-DG), mediate cellular adhesion to extracellular matrix components. Read More

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http://dx.doi.org/10.1186/s12964-020-00561-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315491PMC

The clinicopathological and molecular features of sporadic gastric foveolar type neoplasia.

Virchows Arch 2020 Jun 12. Epub 2020 Jun 12.

Division of Gastroenterology, Department of Internal Medicine, School of Medicine, Iwate Medical University, 2-1-1, Shiwagun, Yahabachou, 028-3695, Japan.

Gastric intraepithelial foveolar type neoplasia (IEFN) is not well defined. In addition, atrophic mucosa (AM) is an important issue to consider when evaluating gastric tumorigenesis. Here, we assessed the clinicopathological characteristics and molecular alterations contributing to the development of IEFN compared with intestinal type neoplasia. Read More

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http://dx.doi.org/10.1007/s00428-020-02846-0DOI Listing

Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome.

Fam Cancer 2020 Jun 6. Epub 2020 Jun 6.

Danish Polyposis Registry, Hvidovre Hospital, Gastrounit, Hvidovre, Denmark.

Peutz-Jeghers syndrome (PJS) is a hereditary polyposis syndrome characterized by hamartomatous Peutz-Jeghers polyps in the gastrointestinal tract, mucocutaneous pigmentations, and increased risk for intestinal and extraintestinal cancer. In more than two-third of patients it is possible to detect pathogenic variants in the serine/threonine kinase 11 (STK11) gene, but so far is knowledge about genetic causes in the remaining part of patients limited. Reports of STK11 mosaicism are rare but may be an explanation in some patients without initial findings of pathogenic variants in STK11. Read More

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http://dx.doi.org/10.1007/s10689-020-00191-4DOI Listing

Cronkhite-Canada syndrome: report of a rare case and review of the literature.

J Int Med Res 2020 May;48(5):300060520922427

Department of Nephrology, Shandong University Qilu Hospital, Jinan, China.

Cronkhite-Canada syndrome is rarely encountered in clinical practice. Notably, most patients with Cronkhite-Canada syndrome exhibit hypoalbuminemia. Because the cause of Cronkhite-Canada syndrome is unknown, no specific treatment method has been established. Read More

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http://dx.doi.org/10.1177/0300060520922427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273782PMC

[Endoscopic features and clinical correlation analysis of 24 patients with Cronkhite-Canada syndrome].

Zhonghua Yi Xue Za Zhi 2020 May;100(20):1562-1566

Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China.

To clarify the endoscopic changes prior to corticosteroid therapy in Cronkhite-Canada syndrome (CCS) patients and to explore the correlation between endoscopic features and clinical characteristics. A total of 24 CCS patients who were hospitalized in Peking Union Medical College Hospital from January 1999 to June 2019 and underwent gastroscopy and colonoscopy before corticosteroid therapy were retrospectively enrolled. The endoscopic images were re-interpreted. Read More

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http://dx.doi.org/10.3760/cma.j.cn112137-20191125-02556DOI Listing

Intestinal intussusception in Peutz Jeghers syndrome: A case report.

Ann Med Surg (Lond) 2020 Jun 4;54:106-108. Epub 2020 May 4.

Department of Digestive Surgery, Fattouma Bourguiba University Hospital, Monastir, Tunisia.

Hamartomatous polyposis is a rare cause of intussusception in adults. But this complication is the most frequent for patient with Peutz Jeghers syndrome. Small bowel screening is recommended for those patients in order to prevent emergency repetitive surgeries. Read More

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http://dx.doi.org/10.1016/j.amsu.2020.04.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7225367PMC

Successful surgical treatment of Cronkhite-Canada Syndrome with bilateral flail chest: a case report.

BMC Surg 2020 May 13;20(1):103. Epub 2020 May 13.

Department of Thoracic Surgery, First Hospital of Jilin University, No. 71, Xinmin Street, Changchun, Jilin, People's Republic of China.

Background: Development of multiple rib fractures leading to bilateral flail chest in Cronkhite-Canada Syndrome (CCS) has not been reported.

Case Presentation: A 59-year-old man presented with complaints of fatigue, chest pain, respiratory distress and orthopnea requiring ventilatory support to maintain oxygenation. CCS with bilateral anterior and posterior flail chest due to multiple rib fractures (2nd-10th on the right side and 2nd-11th on the left side). Read More

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http://dx.doi.org/10.1186/s12893-020-00766-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7222535PMC

Cancer Genetics.

Surg Clin North Am 2020 Jun 16;100(3):483-498. Epub 2020 Apr 16.

Department of Surgery, St. Vincent's Medical Center, Bridgeport, CT, USA; Frank H. Netter MD School of Medicine, Quinnipiac University, North Haven, CT, USA. Electronic address:

For most individuals, cancer development is multifactorial; however, up to 10% of all cancers are related to an inherited genetic mutation. As health care shifts to having a greater emphasis on prevention, care providers, including general surgeons, will need to play a role in identifying patients at high risk for cancer development. Genetic testing provides a tool to determine those patients with a genetic mutation and to whom appropriate preventive care and treatment may be offered. Read More

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http://dx.doi.org/10.1016/j.suc.2020.02.012DOI Listing

Desmoid tumours: a perfect example for making progress in treatment management through international collaboration.

Authors:
B Kasper

ESMO Open 2019 11;4(6)

Sarcoma Unit, Interdisciplinary Tumor Center Mannheim, Mannheim University Medical Center, University of Heidelberg, Mannheim, Germany

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http://dx.doi.org/10.1136/esmoopen-2019-000636DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7001096PMC
November 2019

Discovery of 4-(3,5-dimethoxy-4-(((4-methoxyphenethyl)amino)methyl)phenoxy)-N-phenylaniline as a novel c-myc inhibitor against colorectal cancer in vitro and in vivo.

Eur J Med Chem 2020 Jul 26;198:112336. Epub 2020 Apr 26.

State Key Laboratory of Biotherapy, Collaborative Innovation Center of Biotherapy and Cancer Center, West China Hospital of Sichuan University, Chengdu, 610041, China. Electronic address:

Proto-oncogene c-Myc plays an essential role in the development of colorectal cancer (CRC), since downregulation of c-Myc inhibits intestinal polyposis, which is the most cardinal pathological change in the development of CRC. Herein, a series of novel phenoxy-N-phenylaniline derivatives were designed and synthesized. The cytotoxicity activities of all the derivatives were measured by MTT assay in different colon cancer cells, 4-(3,5-dimethoxy-4-(((4-methoxyphenethyl)amino)methyl)phenoxy)-N-phenylaniline (42) was discovered, the lead compound 42 with excellent cytotoxicity activity of IC = 0. Read More

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http://dx.doi.org/10.1016/j.ejmech.2020.112336DOI Listing

[MUTYH-associated polyposis: Review and update of the French recommendations established in 2012 under the auspices of the National Cancer Institute (INCa)].

Bull Cancer 2020 May 1;107(5):586-600. Epub 2020 May 1.

PSL Research University, Institut Curie, département de génétique, 26, rue d'Ulm, 75248 Paris cedex 05, France. Electronic address:

MUTYH-associated polyposis (MUTYH-associated polyposis, MAP) is an autosomal recessive inheritance disorder related to bi-allelic constitutional pathogenic variants of the MUTYH gene which was first described in 2002. In 2011, a group of French experts composed of clinicians and biologists, performed a summary of the available data on this condition and drew up recommendations concerning the indications and the modalities of molecular analysis of the MUTYH gene in index cases and their relatives, as well as the management of affected individuals. In view of recent developments, some recommendations have become obsolete, in particular with regard to the molecular analysis strategy since MUTYH gene has been recently included in a consensus panel of 14 genes predisposing to colorectal cancer. Read More

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http://dx.doi.org/10.1016/j.bulcan.2020.02.004DOI Listing

The Long-Term Clinical and Endoscopic Outcomes of Cronkhite-Canada Syndrome.

Clin Transl Gastroenterol 2020 Apr;11(4):e00167

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

Introduction: The prognosis of Cronkhite-Canada syndrome (CCS) is considered poor. Despite the recent therapeutic improvements, the survival outcomes and prognostic factors have been less studied. This study aimed to investigate the long-term clinical and endoscopic outcomes of CCS. Read More

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http://dx.doi.org/10.14309/ctg.0000000000000167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7263663PMC

Winnie- Mice: A Spontaneous Model of Colitis-Associated Colorectal Cancer Combining Genetics and Inflammation.

Int J Mol Sci 2020 Apr 23;21(8). Epub 2020 Apr 23.

National Institute of Gastroenterology "S. de Bellis", Research Hospital, 70013 Castellana Grotte (BA), Italy.

(1) Background: Colorectal cancer (CRC) is among the best examples of the relationship between inflammation and increased cancer risk. (2) Methods: To examine the effects of spontaneous low-grade chronic inflammation on the pathogenesis of CRC, we developed a new murine model of colitis-associated cancer (CAC) by crossing Mucin 2 mutated mice (Winnie) with mice. (3) Results: The resulting Winnie- model combines an inflammatory background with a genetic predisposition to small intestinal polyposis. Read More

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http://dx.doi.org/10.3390/ijms21082972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7215554PMC

Silymarin, boswellic acid and curcumin enriched dietetic formulation reduces the growth of inherited intestinal polyps in an animal model.

World J Gastroenterol 2020 Apr;26(14):1601-1612

Gastroenterology Section, Department of Emergency and Organ Transplantation, University of Bari, Bari 70124, Italy.

Background: Some substances of plant origin have been reported to exert an effect in reducing intestinal neoplasm development, especially in animal models. Adenomatous polyposis coli multiple intestinal neoplasia - Apc is the most studied murine model of genetic intestinal carcinogenesis.

Aim: To assess whether an enriched nutritional formulation (silymarin, boswellic acid and curcumin) with proven and anti-carcinogenetic properties may prevent inherited intestinal cancer in animal model. Read More

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http://dx.doi.org/10.3748/wjg.v26.i14.1601DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7167411PMC

Evaluation of the Anti-Tumor Activity of Small Molecules Targeting Eph/Ephrins in APC /J Mice.

Pharmaceuticals (Basel) 2020 Apr 16;13(4). Epub 2020 Apr 16.

Food and Drug Department, University of Parma, Viale delle Scienze 27/a, 43124 Parma, Italy.

The Eph receptors are the largest receptors tyrosine kinases (RTKs) family in humans and together with ephrin ligands constitute a complex cellular communication system often dysregulated in many tumors. The role of the Eph-ephrin system in colorectal cancer (CRC) has been investigated and different expression of Eph receptors have been associated with tumor development and progression. In light of this evidence, we investigated if a pharmacological approach aimed at inhibiting Eph/ephrin interaction through small molecules could prevent tumor growth in APC /J mice. Read More

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http://dx.doi.org/10.3390/ph13040069DOI Listing

Association of APC gene promoter methylation and the risk of gastric cancer: A meta-analysis and bioinformatics study.

Medicine (Baltimore) 2020 Apr;99(16):e19828

Department of Interventional Radiology.

Background: The methylation status of the adenomatous polyposis coli (APC) promoter has been shown to be associated with the occurrence of gastric cancer, but this finding remains controversial. The aim of this study was to investigate the relationship between methylation of the APC gene promoter and gastric cancer.

Methods: We searched the Web of Science, EMBASE, Medline, and Cochrane Central Register of Controlled Trials (CENTRAL) databases from the date of creation until August 1, 2019. Read More

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http://dx.doi.org/10.1097/MD.0000000000019828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220245PMC

Blue laser imaging in a patient with Cronkhite-Canada syndrome.

Gastrointest Endosc 2020 Apr 17. Epub 2020 Apr 17.

Department of Gastroenterology and Hepatology, General Hospital, Tianjin Medical University, Heping district 154 Anshan Road, Tianjin 300052, China.

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http://dx.doi.org/10.1016/j.gie.2020.04.019DOI Listing

Huge bilharzial polyp mimicking colon cancer.

JGH Open 2020 Apr 12;4(2):280-283. Epub 2019 Apr 12.

Department of Pathology, Faculty of Medicine Mansoura University Mansoura Egypt.

Bilharziasis (Schistosomiasis) is the third devastating tropical disease globally and is endemic in many countries including Egypt. The pathology of chronic colonic schistosomiasis results from egg-induced immune response, granuloma formation, and associated fibrotic changes that may manifest as bloody diarrhea, cramping, and, eventually, inflammatory colonic polyposis. Huge polyps complicating schistosomiasis are not frequently reported in the literature. Read More

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http://dx.doi.org/10.1002/jgh3.12181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7144792PMC

Lats1/2 Sustain Intestinal Stem Cells and Wnt Activation through TEAD-Dependent and Independent Transcription.

Cell Stem Cell 2020 May 6;26(5):675-692.e8. Epub 2020 Apr 6.

Department of Molecular, Cell and Cancer Biology, University of Massachusetts Medical School, Worcester, MA, USA. Electronic address:

Intestinal homeostasis is tightly regulated by complex yet poorly understood signaling networks. Here, we demonstrate that Lats1/2, the core Hippo kinases, are essential to maintain Wnt pathway activity and intestinal stem cells. Lats1/2 deletion leads to loss of intestinal stem cells but drives Wnt-uncoupled crypt expansion. Read More

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http://dx.doi.org/10.1016/j.stem.2020.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7310193PMC

Molecular Aspects of Colorectal Adenomas: The Interplay among Microenvironment, Oxidative Stress, and Predisposition.

Biomed Res Int 2020 16;2020:1726309. Epub 2020 Mar 16.

Department of Medical, Oral and Biotechnological Sciences, G. d'Annunzio University of Chieti-Pescara, 66100 Chieti, Italy.

The development of colorectal cancer (CRC) is a multistep process initiated by a benign polyp that has the potential to evolve into carcinoma through the interactions between environmental and genetic factors. CRC incidence rates are constantly increased for young adult patients presenting an advanced tumor stage. The majority of CRCs arise from colonic adenomas originating from aberrant cell proliferation of colon epithelium. Read More

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http://dx.doi.org/10.1155/2020/1726309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7102468PMC

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

Int J Mol Sci 2020 Apr 2;21(7). Epub 2020 Apr 2.

Department of Molecular Biology of Cancer, Institute of Experimental Medicine of the Czech Academy of Sciences, Videnska 1083, 142 20 Prague, Czech Republic.

Oxidative stress with subsequent premutagenic oxidative DNA damage has been implicated in colorectal carcinogenesis. The repair of oxidative DNA damage is initiated by lesion-specific DNA glycosylases (hOGG1, NTH1, MUTYH). The direct evidence of the role of oxidative DNA damage and its repair is proven by hereditary syndromes (MUTYH-associated polyposis, NTHL1-associated tumor syndrome), where germline mutations cause loss-of-function in glycosylases of base excision repair, thus enabling the accumulation of oxidative DNA damage and leading to the adenoma-colorectal cancer transition. Read More

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http://dx.doi.org/10.3390/ijms21072473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7177219PMC

Disruption of EGF Feedback by Intestinal Tumors and Neighboring Cells in Drosophila.

Curr Biol 2020 Apr 2;30(8):1537-1546.e3. Epub 2020 Apr 2.

Department of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address:

In healthy adult organs, robust feedback mechanisms control cell turnover to enforce homeostatic equilibrium between cell division and death [1, 2]. Nascent tumors must subvert these mechanisms to achieve cancerous overgrowth [3-7]. Elucidating the nature of this subversion can reveal how cancers become established and may suggest strategies to prevent tumor progression. Read More

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http://dx.doi.org/10.1016/j.cub.2020.01.082DOI Listing

Loss of Apc Rapidly Impairs DNA Methylation Programs and Cell Fate Decisions in Lgr5 Intestinal Stem Cells.

Cancer Res 2020 Jun 25;80(11):2101-2113. Epub 2020 Mar 25.

Institute of Functional Genomics (IGF), University of Montpellier, CNRS, INSERM, Equipe Labellisée Ligue Contre le Cancer, Montpellier, France.

Colorectal cancer initiation and progression result from the accumulation of genetic and epigenetic alterations. Although aberrant gene expression and DNA methylation profiles are considered hallmarks of colorectal cancer development, the precise timing at which these are produced during tumor establishment remains elusive. Here we investigated the early transcriptional and epigenetic changes induced by adenomatous polyposis coli () inactivation in intestinal crypts. Read More

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http://dx.doi.org/10.1158/0008-5472.CAN-19-2104DOI Listing

50 Years Ago in TheJournalofPediatrics: Infantile Intestinal Polyposis Is Still Rare with High Morbidity and Mortality.

Authors:
Allison D Ta

J Pediatr 2020 Apr;219:105

Division of Pediatric Gastroenterology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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http://dx.doi.org/10.1016/j.jpeds.2019.10.043DOI Listing

Regulatory T cells specifically suppress conventional CD8αβ T cells in intestinal tumors of APC mice.

Cancer Immunol Immunother 2020 Jul 17;69(7):1279-1292. Epub 2020 Mar 17.

Department of Microbiology and Immunology, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

The presence of activated T cells in colorectal cancer tissues is a strong predictor of patient survival. Our previous studies have shown that regulatory T cells (Treg) are able to reduce T cell transendothelial migration in vitro and accumulation of effector T cells in intestinal tumors in vivo in the murine APC model for microsatellite stable intestinal tumors. In this study, we investigated the effect of Treg depletion on the density and effector functions of different TCRαβ and TCRγδ T cell populations in intestinal tumors. Read More

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http://dx.doi.org/10.1007/s00262-020-02540-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303072PMC

[Desmoid type fibromatosis, from radical excision to molecular extirpation].

Bull Cancer 2020 Mar;107(3):344-345

Institut Curie, PSL university, SIREDO Oncology Center (Care, Innovation and Research for Children, Adolescents and Young Adults with Cancer), 26, rue d'Ulm, 75005 Paris, France.

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http://dx.doi.org/10.1016/j.bulcan.2020.02.006DOI Listing
March 2020
0.635 Impact Factor

Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature.

BMC Med Genet 2020 03 14;21(1):52. Epub 2020 Mar 14.

Section of General Surgery and Gastrointestinal Surgery, Department of Surgery I, Faculdade de Medicina do ABC, Avenida Lauro Gomes, 2000, Santo André/São Paulo, CEP 09060-870, Brazil.

Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal tumors that are usually hybrid oncocytic or multifocal chromophobe renal cell carcinoma. The diagnosis is confirmed by the presence of a pathogenic variant in the tumor suppressor folliculin (FLCN) gene mapped at 17p11.2. Read More

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http://dx.doi.org/10.1186/s12881-020-0991-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7071710PMC

Adult Intussusception at a Tertiary Care Center: A Retrospective Study.

Niger J Surg 2020 Jan-Jun;26(1):63-65. Epub 2020 Feb 10.

Department of General Surgery, Government Medical College, Thiruvananthapuram, Kerala, India.

Background: In adults, the majority of cases of intussusception are due to malignancy.

Aims: The aim of the study is to describe the pattern of intussusception in the adult population diagnosed and treated at a tertiary care center.

Subjects And Methods: Study Design: This is a retrospective cross-sectional study based on chart review, and data collection was made from the computer database and inpatient case records. Read More

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http://dx.doi.org/10.4103/njs.NJS_38_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041356PMC
February 2020

[A Case of Long-Term Survival after Resection for Metachronous Liver and Lung Metastases of Rectal Cancer Associated with Familial Adenomatous Polyposis].

Gan To Kagaku Ryoho 2019 Dec;46(13):2228-2230

Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences.

A 37-year-old man was admitted to our hospital for the treatment of familial adenomatous polyposis and rectal carcinoma. He underwent total colectomy with ileoanal anastomosis(pT3N1M0, pStage Ⅲa)followed by adjuvant therapy with S-1. Three months after primary surgery, CT and MRIrevealed liver metastases(S5, S6). Read More

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December 2019

Risk of neoplastic change in large gastric hyperplastic polyps and recurrence after endoscopic resection.

Endoscopy 2020 Jun 2;52(6):444-453. Epub 2020 Mar 2.

Hospices Civils de Lyon, Hôpital Edouard Herriot, Service d'Hépato-Gastro-Entérologie et d'Endoscopie Digestive, Lyon, France.

Background:  Gastric hyperplastic polyps (GHPs) have a risk of neoplastic transformation reaching 5 %. Current endoscopic resection techniques appear suboptimal with a high risk of local recurrence. This study assessed the outcomes of endoscopic resection for GHPs and identified risk factors for recurrence and neoplastic transformation. Read More

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http://dx.doi.org/10.1055/a-1117-3166DOI Listing

Haploinsufficiency of Casitas B-Lineage Lymphoma Augments the Progression of Colon Cancer in the Background of Adenomatous Polyposis Coli Inactivation.

Am J Pathol 2020 03 26;190(3):602-613. Epub 2020 Feb 26.

Department of Medicine, Boston University School of Medicine, Boston, Massachusetts; Veterans Affairs Boston Healthcare System, Boston, Massachusetts; Global Co-Creation Labs, Institute of Medical Engineering and Sciences, Massachusetts Institute of Technology, Cambridge, Massachusetts. Electronic address:

Casitas B-lineage lymphoma (c-Cbl) is a recently identified ubiquitin ligase of nuclear β-catenin and a suppressor of colorectal cancer (CRC) growth in cell culture and mouse tumor xenografts. We hypothesized that reduction in c-Cbl in colonic epithelium is likely to increase the levels of nuclear β-catenin in the intestinal crypt, augmenting CRC tumorigenesis in an adenomatous polyposis coli (APC) mouse model. Haploinsufficient c-Cbl mice (APC c-Cbl) displayed a significant (threefold) increase in atypical hyperplasia and adenocarcinomas in the small and large intestines; however, no differences were noted in the adenoma frequency. Read More

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http://dx.doi.org/10.1016/j.ajpath.2019.10.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7074366PMC
March 2020
4.591 Impact Factor

Dysbiosis-Induced Secondary Bile Acid Deficiency Promotes Intestinal Inflammation.

Cell Host Microbe 2020 04 25;27(4):659-670.e5. Epub 2020 Feb 25.

Department of Medicine, Division of Gastroenterology and Hepatology, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address:

Secondary bile acids (SBAs) are derived from primary bile acids (PBAs) in a process reliant on biosynthetic capabilities possessed by few microbes. To evaluate the role of BAs in intestinal inflammation, we performed metabolomic, microbiome, metagenomic, and transcriptomic profiling of stool from ileal pouches (surgically created resevoirs) in colectomy-treated patients with ulcerative colitis (UC) versus controls (familial adenomatous polyposis [FAP]). We show that relative to FAP, UC pouches have reduced levels of lithocholic acid and deoxycholic acid (normally the most abundant gut SBAs), genes required to convert PBAs to SBAs, and Ruminococcaceae (one of few taxa known to include SBA-producing bacteria). Read More

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http://dx.doi.org/10.1016/j.chom.2020.01.021DOI Listing

Novel pathogenic alterations in pediatric and adult desmoid-type fibromatosis - A systematic analysis of 204 cases.

Sci Rep 2020 Feb 25;10(1):3368. Epub 2020 Feb 25.

Gerhard-Domagk-Institute of Pathology, Münster University Hospital, Münster, Germany.

Desmoid-type fibromatosis (DTF, aggressive fibromatosis) is a non-metastasizing mesenchymal neoplasm of deep soft tissue with a tendency towards local recurrence. Genetic alterations affecting canonical Wnt/β-catenin signaling are reported in the majority of DTF. While most sporadic DTF harbor somatic mutations in CTNNB1, germline mutations in adenomatous polyposis coli (APC) are known to occur in hereditary DTF types (FAP, Gardner-Syndrome). Read More

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http://dx.doi.org/10.1038/s41598-020-60237-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042250PMC
February 2020

Estimated prevalence of Cronkhite-Canada Syndrome, Chronic Enteropathy Associated with SLCO2A1 Gene, and Intestinal Behçet's Disease in Japan in 2017: A Nationwide Survey.

J Epidemiol 2020 Feb 22. Epub 2020 Feb 22.

Department of Internal Medicine, Toho University Sakura Medical Center.

Background: Cronkhite-Canada syndrome (CCS), chronic enteropathy associated with SLCO2A1 gene (CEAS), and intestinal Behçet's disease (BD) are classified as intractable intestinal disorders in Japan. However, the national prevalence of these diseases remains unknown. We performed a nationwide survey to estimate the patient numbers and prevalence rates of these diseases throughout Japan in 2017. Read More

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http://dx.doi.org/10.2188/jea.JE20190349DOI Listing
February 2020

APC controls Wnt-induced β-catenin destruction complex recruitment in human colonocytes.

Sci Rep 2020 Feb 19;10(1):2957. Epub 2020 Feb 19.

Department of Molecular Biosciences, University of Kansas, Lawrence, KS, USA.

Wnt/β-catenin signaling is essential for intestinal homeostasis and is aberrantly activated in most colorectal cancers (CRC) through mutation of the tumor suppressor Adenomatous Polyposis Coli (APC). APC is an essential component of a cytoplasmic protein complex that targets β-catenin for destruction. Following Wnt ligand presentation, this complex is inhibited. Read More

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http://dx.doi.org/10.1038/s41598-020-59899-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7031393PMC
February 2020

Epigenetic loss of heterozygosity of Apc and an inflammation-associated mutational signature detected in Lrig1-driven murine colonic adenomas.

BMC Cancer 2020 Feb 14;20(1):126. Epub 2020 Feb 14.

Institute of Molecular Biology, University of Oregon, Eugene, OR, 97403, USA.

Background: The loss of a single copy of adenomatous polyposis coli (Apc) in leucine-rich repeats and immunoglobulin-like domains 1 (Lrig1)-expressing colonic progenitor cells induces rapid growth of adenomas in mice with high penetrance and multiplicity. The tumors lack functional APC, and a genetic loss of heterozygosity of Apc was previously observed.

Methods: To identify genomic features of early tumorigenesis, and to profile intertumoral genetic heterogeneity, tumor exome DNA (n = 9 tumors) and mRNA (n = 5 tumors) sequences were compared with matched nontumoral colon tissue. Read More

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http://dx.doi.org/10.1186/s12885-020-6616-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7023705PMC
February 2020

[Turcot syndrome and Gardner's syndrome in a female patient with familial colon adenomatosis. A case report and literature review].

Zh Vopr Neirokhir Im N N Burdenko 2019 ;83(6):72-77

Ryzhikh State Scientific Center of Coloproctology, Moscow, Russia.

Turcot syndrome is a rare hereditary syndrome characterized by a combination of brain tumors and colorectal cancer. According to the literature, about 150 such cases have been reported. This article presents a rare clinical case and a literature review. Read More

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http://dx.doi.org/10.17116/neiro20198306172DOI Listing

Desmoid tumour: rare presentation following neonatal lumbar puncture.

Arch Dis Child Fetal Neonatal Ed 2020 May 6;105(3):298. Epub 2020 Feb 6.

Liverpool Centre for Genomic Medicine, Liverpool Womens NHS Foundation Trust, Liverpool, UK

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http://dx.doi.org/10.1136/archdischild-2018-316210DOI Listing

Protease-activated receptor-2 accelerates intestinal tumor formation through activation of nuclear factor-κB signaling and tumor angiogenesis in Apc mice.

Cancer Sci 2020 Apr 24;111(4):1193-1202. Epub 2020 Feb 24.

Department of Pathology, University of Miyazaki, Miyazaki, Japan.

Hepatocyte growth factor activator inhibitor-1 (HAI-1), encoded by the SPINT1 gene, is a membrane-bound protease inhibitor expressed on the surface of epithelial cells. Hepatocyte growth factor activator inhibitor-1 regulates type II transmembrane serine proteases that activate protease-activated receptor-2 (PAR-2). We previously reported that deletion of Spint1 in Apc mice resulted in accelerated formation of intestinal tumors, possibly through enhanced nuclear factor-κB signaling. Read More

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http://dx.doi.org/10.1111/cas.14335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7156842PMC

Theracurmin inhibits intestinal polyp development in Apc-mutant mice by inhibiting inflammation-related factors.

Cancer Sci 2020 Apr 22;111(4):1367-1374. Epub 2020 Feb 22.

Epidemiology and Prevention Division, Research Center for Cancer Prevention and Screening, National Cancer Center, Tokyo, Japan.

Colorectal cancer (CRC) is the second leading cause of cancer death worldwide. Therefore, it is important to establish useful methods for preventing CRC. One prevention strategy involves the use of cancer chemopreventive agents, including functional foods. Read More

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http://dx.doi.org/10.1111/cas.14329DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7156816PMC

Cronkhite-Canada syndrome in an adult with titanium orthopaedic implants.

Authors:
J Chen H Yu Z Yao

J Eur Acad Dermatol Venereol 2020 Jan 21. Epub 2020 Jan 21.

Department of Dermatology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

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http://dx.doi.org/10.1111/jdv.16221DOI Listing
January 2020

[Biology and signaling pathways involved in the oncogenesis of desmoid tumors].

Bull Cancer 2020 Mar 16;107(3):346-351. Epub 2020 Jan 16.

Institut Claudius Régaud, Cancer Research Center in Toulouse (CRCT), IUCT-oncopole, Inserm U1037, 31000, Toulouse, France.

Desmoid tumors (TDs) are derived from mesenchymal stem cells and their pathogenesis is strongly linked to the Wingless/Wnt cascade where the deregulation of β-catenin plays a major role. A mutation of the CTNNB1 encoding β-catenin is found in the majority of sporadic TD cases and constitutional mutations of APC have been described in heritable forms in patients with familial adenomatous polyposis (FAP). Estrogens could also play a role in pathogenesis and this is the basis for the use of hormone therapy. Read More

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http://dx.doi.org/10.1016/j.bulcan.2019.12.003DOI Listing

Familial Adenomatous Polyposis and Desmoid Tumor Treated with Multivisceral Transplantation and Kidney Autotransplantation: Case Report and Literature Review.

Case Rep Surg 2019 22;2019:6064720. Epub 2019 Dec 22.

Transplant Surgery Department, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.

Introduction: Desmoid tumours (DT) are commonly associated with Gardener's syndrome. Their surgical resection may be complicated by their close proximity to major vessels, multiple organ involvement, and frequent local recurrence. Multivisceral transplantation (MVTx) is an alternative treatment for patients with intestinal and liver failure. Read More

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http://dx.doi.org/10.1155/2019/6064720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942762PMC
December 2019

Abnormality of intestinal cholesterol absorption in mice with colon cancer cachexia.

Int J Clin Exp Pathol 2019 1;12(3):759-767. Epub 2019 Mar 1.

Jilin Provincial Key Laboratory of Animal Embryo Engineering, College of Animal Sciences, Jilin University Changchun, Jilin Province, China.

Colorectal cancer syndrome has been one of the greatest concerns in the world, particularly in developed countries. Several epidemiological studies have shown that dyslipidemia may be associated with the progression of intestinal cachexia, but there is little research on the function of the small intestine, which is involved in blood lipid metabolism, in dyslipidemia. In the present study, we aimed to explore the function of intestinal cholesterol absorption in the mouse model using an intestinal lipid absorption test. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6945172PMC

Ocular manifestations in celiac disease: an overview.

Int Ophthalmol 2020 Apr 8;40(4):1049-1054. Epub 2020 Jan 8.

Department of Gastroenterology and Hepatology, School of Health Sciences, University Hospital of Ioannina, University of Ioannina, 45100, Ioannina, Greece.

Purpose: To review and highlight the ocular manifestations associated with celiac disease (CD) and presentation of their pathogenetic mechanisms.

Methods: A thorough review of the literature was performed using PubMed to identify articles about serrated polyposis syndrome. The search was performed using the search string: ("celiac disease" OR "coeliac disease") AND ("ocular manifestations" OR "eye" OR "orbitopathy" OR "uveitis" OR "neuro-ophthalmic manifestations"). Read More

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http://dx.doi.org/10.1007/s10792-019-01254-xDOI Listing

Sessile Serrated Polyposis: Not an Inherited Syndrome?

Dis Colon Rectum 2020 02;63(2):183-189

Department of Colorectal Surgery, Cleveland Clinic, Cleveland, Ohio.

Background: Researchers are searching in vain for a coherent genetic explanation for serrated polyposis. We hypothesize that there is no consistent monogenetic inheritance.

Objective: The purpose of this study was to describe the serrated polyposis phenotype, assessing features of mendelian inheritance, and to compare these features with patients with a solitary sessile serrated lesion. Read More

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http://dx.doi.org/10.1097/DCR.0000000000001537DOI Listing
February 2020

Acarbose improved survival for Apc mice.

Aging Cell 2020 02 6;19(2):e13088. Epub 2020 Jan 6.

Department of Molecular Medicine and Institute of Biotechnology, University of Texas Health, San Antonio, TX, USA.

Acarbose blocks the digestion of complex carbohydrates, and the NIA Intervention Testing Program (ITP) found that it improved survival when fed to mice. Yet, we do not know if lifespan extension was caused by its effect on metabolism with regard to the soma or cancer suppression. Cancer caused death for ~80% of ITP mice. Read More

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http://dx.doi.org/10.1111/acel.13088DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6996958PMC
February 2020
6.340 Impact Factor

Cytohistology of morule in cribriform-morular variant of papillary thyroid carcinoma.

Malays J Pathol 2019 Dec;41(3):339-343

Fujita Health University School of Medicine, Department of Diagnostic Pathology, Toyoake, Aichi, Japan, 470-1192.

Introduction: Cribriform-morular variant (CMV) is a rare variant of papillary thyroid carcinoma. It frequently occurs in association with familial adenomatous polyposis (FAP), although some cases are sporadic. Herein, we report a case of CMV and analyse morule cytohistology. Read More

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December 2019

A case of papilloma-like lesions of the esophagus in Cronkhite-Canada syndrome.

Dig Liver Dis 2020 03 31;52(3):352. Epub 2019 Dec 31.

Digestive and Lifestyle Diseases, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.

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http://dx.doi.org/10.1016/j.dld.2019.12.004DOI Listing