10,327 results match your criteria Familial Adenomatous Polyposis


Large desmoid tumors in familial adenomatous polyposis: a successful outcome.

Autops Case Rep 2018 Oct-Dec;8(4):e2018045. Epub 2018 Sep 26.

Centro Hospitalar de São João, Department of Surgery. Porto, Portugal.

Desmoid tumors develop from connective tissue, fasciae, and aponeuroses, and may occur in the context of familial adenomatous polyposis or may arise sporadically; also, they may be extra-abdominal, intra-abdominal, or located in the abdominal wall. These benign tumors have a great aggressiveness with a high rate of local recurrence. Familial adenomatous polyposis is an inherited condition with autosomal dominant transmission, and is characterized by the development of multiple colonic and rectal adenomatous polyps, as well as desmoid tumors. Read More

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http://dx.doi.org/10.4322/acr.2018.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360820PMC
September 2018

MiR-15/16 mediate crosstalk between the MAPK and Wnt/β-catenin pathways during hepatocyte differentiation from amniotic epithelial cells.

Biochim Biophys Acta Gene Regul Mech 2019 Feb 9. Epub 2019 Feb 9.

Key Laboratory of Precision Oncology of Shandong Higher Education, Institute of precision medicine, Jining Medical University, Jining, Shandong 272067, PR China; College of Basic Medicine, Jining Medical University, Jining, Shandong 272067, PR China; Institute of Animal Sciences, Chinese Academy of Agricultural Sciences, Beijing 100193, PR China. Electronic address:

MiR-15/16 play an important role in liver development and hepatocyte differentiation, but the mechanisms by which these miRNAs regulate their targets and downstream genes to influence cell fate are poorly understood. In this study, we showed up-regulation of miR-15/16 during HGF- and FGF4-induced hepatocyte differentiation from amniotic epithelial cells (AECs). To elucidate the role of miR-15/16 and their targets in hepatocyte differentiation, we investigated the roles of miR-15/16 in both the MAPK and Wnt/β-catenin pathways, which were predicted to be involved in miR-15/16 signaling. Read More

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http://dx.doi.org/10.1016/j.bbagrm.2019.02.003DOI Listing
February 2019

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.

Cancer Cell 2019 Feb;35(2):256-266.e5

Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Princess Máxima Center for Pediatric Oncology, 3584 CT Utrecht, The Netherlands. Electronic address:

Biallelic germline mutations affecting NTHL1 predispose carriers to adenomatous polyposis and colorectal cancer, but the complete phenotype is unknown. We describe 29 individuals carrying biallelic germline NTHL1 mutations from 17 families, of which 26 developed one (n = 10) or multiple (n = 16) malignancies in 14 different tissues. An unexpected high breast cancer incidence was observed in female carriers (60%). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S15356108183058
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http://dx.doi.org/10.1016/j.ccell.2018.12.011DOI Listing
February 2019
3 Reads

A Role for Postsynaptic Density 95 and its Binding Partners in Models of Traumatic Brain Injury.

J Neurotrauma 2019 Feb 12. Epub 2019 Feb 12.

Rutgers The State University of New Jersey, 242612, Cell Biology and Neuroscience, Piscataway, New Jersey, United States ;

Postsynaptic density 95 (PSD-95), the major scaffold protein at excitatory synapses, plays a major role in mediating intracellular signaling by synaptic N-methyl-D-aspartate (NMDA) type glutamate receptors. Despite the fact that much is known about the role of PSD-95 in NMDA-mediated toxicity, less is known about its role in mechanical injury, and more specifically, in traumatic brain injury. Given that neural circuitry is disrupted after TBI and that PSD-95 and its interactors end-binding protein 3 (EB3) and adenomatous polyposis coli (APC) shape dendrites, we examined whether changes to these proteins and their interactions occur after brain trauma. Read More

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http://dx.doi.org/10.1089/neu.2018.6291DOI Listing
February 2019
2 Reads
3.714 Impact Factor

Colorectal Cancer in Individuals With Familial Adenomatous Polyposis, Based on Analysis of the Danish Polyposis Registry.

Clin Gastroenterol Hepatol 2019 Feb 8. Epub 2019 Feb 8.

Danish Polyposis Registry, Gastro Unit, Copenhagen University Hospital Hvidovre, Hvidovre, Denmark.

Background & Aims: Familial adenomatous polyposis (FAP) is an autosomal dominant disorder that increases risk for colorectal cancer (CRC). We assessed changes in the incidence and prevalence of CRC, and survival times, of patients with FAP participating in the Danish follow-up study.

Methods: We collected data from the Danish Polyposis Registry, a nationwide, complete registry of patients with FAP that includes clinical information, surgical procedures, follow-up findings, and pathology reports. Read More

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http://dx.doi.org/10.1016/j.cgh.2019.02.008DOI Listing
February 2019

Recent Advances in Pathology: The 2019 Annual Review Issue of the Journal of Pathology.

J Pathol 2019 Feb 8. Epub 2019 Feb 8.

RECAMO, Masaryk Memorial Cancer Institute, Brno, Czech Republic.

In this Annual Review Issue of The Journal of Pathology, we present 15 invited reviews on topical aspects of pathology, ranging from the impacts of the microbiome in human disease through mechanisms of cell death and autophagy to recent advances in immunity and the uses of genomics for understanding, classifying and treating human cancers. Each of the reviews is authored by experts in their fields and our intention is to provide comprehensive updates in specific areas of pathology in which there has been considerable recent progress. Read More

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http://doi.wiley.com/10.1002/path.5255
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http://dx.doi.org/10.1002/path.5255DOI Listing
February 2019
4 Reads

Interstitial Deletion of 5q22.2q23.1 Including and in a Patient with Adenomatous Polyposis and Asthenoteratozoospermia.

Mol Syndromol 2019 Jan 22;9(5):235-240. Epub 2018 Aug 22.

Genetic Medico-Diagnostic Laboratory Genica, City Clinic Cancer Center, Sofia Medical University, Sofia, Bulgaria.

Interstitial 5q22 deletions are relatively rare and usually represented by severe clinical features such as developmental delay and growth retardation. Here, we report a 23-year-old male patient, referred to our laboratory for genetic confirmation of possible familial adenomatous polyposis. MLPA and the subsequent array CGH identified an approximately 8-Mb-sized deletion in the 5q22. Read More

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http://dx.doi.org/10.1159/000492516DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362852PMC
January 2019
1 Read

Msx1 loss suppresses formation of the ectopic crypts developed in the Apc-deficient small intestinal epithelium.

Sci Rep 2019 Feb 7;9(1):1629. Epub 2019 Feb 7.

Institute of Molecular Genetics of the ASCR, v. v. i., Videnska 1083, 142 20, Prague 4, Czech Republic.

The first step in the development of human colorectal cancer is aberrant activation of the Wnt signaling pathway. Wnt signaling hyperactivation is predominantly caused by loss-of-function mutations in the adenomatous polyposis coli (APC) gene that encodes the pathway negative regulator. In order to identify genes affected by the Apc loss, we performed expression profiling of intestinal epithelium isolated from mice harboring a conditional Apc allele. Read More

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http://dx.doi.org/10.1038/s41598-018-38310-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367488PMC
February 2019

IFN/STAT signaling controls tumorigenesis and the drug response in colorectal cancer.

Cancer Sci 2019 Feb 6. Epub 2019 Feb 6.

Department of Cell Biology, The Cancer Institute, Japanese Foundation for Cancer Research, Koto-Ku, Tokyo, 135-8550, Japan.

Colorectal cancer (CRC) is caused by genetic alterations, and comprehensive sequence analyses have revealed the mutation landscapes. In addition to somatic changes, genetic variations are considered important factors contributing to tumor development; however, our knowledge on this subject is limited. Familial adenomatous polyposis coli (FAP) is an autosomal-dominant inherited disease caused by germline mutations in the adenomatous polyposis coli (APC) gene. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cas.13964
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http://dx.doi.org/10.1111/cas.13964DOI Listing
February 2019
7 Reads

Low-dose eribulin reduces lung metastasis of osteosarcoma and .

Oncotarget 2019 Jan 4;10(2):161-174. Epub 2019 Jan 4.

Department of Orthopedic Surgery, University of Toyama, Toyama, Japan.

Lung metastasis markedly reduces the prognosis of osteosarcoma. Moreover, there is no effective treatment for lung metastasis, and a new treatment strategy for the treatment of osteosarcoma lung metastasis is required. Therefore, in this study, we investigated the suppressive effect of the microtubule inhibitor eribulin mesylate (eribulin) on lung metastasis of osteosarcoma. Read More

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http://dx.doi.org/10.18632/oncotarget.26536DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349434PMC
January 2019
1 Read

Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer.

J Cancer 2019 1;10(3):643-653. Epub 2019 Jan 1.

Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China.

Colorectal cancer (CRC) is a common malignant tumor of the digestive system worldwide, associated with hereditary genetic features. CRC with a Mendelian genetic predisposition accounts for approximately 5-10% of total CRC cases, mainly caused by a single germline mutation of a CRC susceptibility gene. The main subtypes of hereditary CRC are hereditary non-polyposis colorectal cancer (HNPCC) and familial adenomatous polyposis (FAP). Read More

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http://www.jcancer.org/v10p0643.htm
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http://dx.doi.org/10.7150/jca.28542DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360424PMC
January 2019
3 Reads

Does Age Affect Surgical Outcomes After Ileal pouch-Anal Anastomosis in Children?

J Surg Res 2019 Jan 30;237:61-66. Epub 2019 Jan 30.

Department of Pediatric Surgery, University of Texas Southwestern Medical Center, Dallas, Texas; Department of Pediatric Surgery, Children's Medical Center, Dallas, Texas. Electronic address:

Background: Younger children are referred for surgical intervention in the treatment of ulcerative colitis (UC) and familial adenomatous polyposis (FAP). Outcome data in this population after a laparoscopic restorative proctocolectomy and Ileal pouch-anal anastomosis (LRS-IPAA) are limited. We reviewed our experience to determine if younger children would have similar functional outcomes. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00224804193000
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http://dx.doi.org/10.1016/j.jss.2019.01.004DOI Listing
January 2019
3 Reads

Genomic Features and Clinical Management of Patients with Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer.

Int J Mol Sci 2019 Jan 29;20(3). Epub 2019 Jan 29.

Department of Hepatobiliary and Pancreatic Oncology, National Cancer Center Hospital, Tokyo 1040045, Japan.

Pancreatic cancer (PC) is one of the most devastating malignancies; it has a 5-year survival rate of only 9%, and novel treatment strategies are urgently needed. While most PC cases occur sporadically, PC associated with hereditary syndromes or familial PC (FPC; defined as an individual having two or more first-degree relatives diagnosed with PC) accounts for about 10% of cases. Hereditary cancer syndromes associated with increased risk for PC include Peutz-Jeghers syndrome, hereditary pancreatitis, familial atypical multiple mole melanoma, familial adenomatous polyposis, Lynch syndrome and hereditary breast and ovarian cancer syndrome. Read More

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http://dx.doi.org/10.3390/ijms20030561DOI Listing
January 2019
2 Reads

Identification of aggressive Gardner syndrome phenotype associated with a de novo APC Variant, c.4666dup.

Cold Spring Harb Mol Case Stud 2019 Jan 29. Epub 2019 Jan 29.

Mayo Clinic;

Gardner Syndrome describes a variant phenotype of familial adenomatous polyposis (FAP), characterized primarily by extracolonic lesions including osteomas, dental abnormalities, epidermal cysts, and soft tissue tumors. We describe a two-year old boy presenting with a 2 cm soft tissue mass of the forehead. Pathologic evaluation revealed a nuchal-type/Gardner-associated fibroma. Read More

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http://dx.doi.org/10.1101/mcs.a003640DOI Listing
January 2019
1 Read

Functional outcome after pouch-anal reconstruction with primary and secondary mucosectomy for patients with familial adenomatous polyposis (FAP).

Langenbecks Arch Surg 2019 Jan 24. Epub 2019 Jan 24.

School of Medicine University of Augsburg, Augsburg, Germany.

Introduction: Restorative proctocolectomy and ileal pouch-anal reconstruction is the surgical standard for the majority of patients with familial adenomatous polyposis (FAP). The pouch-anal anastomosis may be performed handsewn after primary mucosectomy or by double stapling. Better functional results favour the latter; however, higher rates of remaining rectal mucosa with adenomas often necessitate secondary mucosectomy. Read More

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http://dx.doi.org/10.1007/s00423-018-1747-1DOI Listing
January 2019

The current state of the transanal approach to the ileal pouch-anal anastomosis.

Surg Endosc 2019 Jan 23. Epub 2019 Jan 23.

Department of Surgery, Hospital Clinic, University of Barcelona, Villarroel, 170, 08036, Barcelona, Spain.

Background: The transanal approach to pelvic dissection has gained considerable traction and utilization continues to expand, fueled by the transanal total mesorectal excision (TaTME) for rectal cancer. The same principles and benefits of transanal pelvic dissection may apply to the transanal restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA)-the TaPouch procedure. Our goal was to review the literature to date on the development and current state of the TaPouch. Read More

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http://dx.doi.org/10.1007/s00464-019-06674-5DOI Listing
January 2019
2 Reads

Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene.

Fam Cancer 2019 Jan 22. Epub 2019 Jan 22.

Parkville Familial Cancer Centre, The Royal Melbourne Hospital and Peter MacCallum Cancer Centre, Parkville, VIC, Australia.

The AXIN2 gene, like APC, plays a role in the Wnt signalling pathway involved in colorectal tumour formation. Heterozygous mutations in AXIN2 have been shown to cause ectodermal dysplasia (including tooth agenesis, or more specifically, oligodontia), and, in some carriers, colorectal cancer and/or adenomatous polyposis develops. There is a paucity of published AXIN2 families making genotype-phenotype (polyposis, colorectal cancer and oligodontia) correlations challenging. Read More

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http://link.springer.com/10.1007/s10689-019-00120-0
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http://dx.doi.org/10.1007/s10689-019-00120-0DOI Listing
January 2019
2 Reads

Short- and Long-term Outcomes After Ileal Pouch Anal Anastomosis in Pediatric Patients: A Systematic Review.

Inflamm Bowel Dis 2019 Jan 18. Epub 2019 Jan 18.

Division ofPediatric Surgery, Mayo Clinic, Rochester Minnesota, USA.

Background: Restorative proctocolectomy and ileal pouch anal anastomosis (IPAA) has become the procedures of choice for restoration of intestinal continuity in ulcerative colitis or familial adenomatous polyposis. This systematic review aims to assess short-term postoperative and long-term functional outcomes in pediatric patients undergoing IPAA.

Methods: A literature search was performed for all publications of pediatric IPAA in which short- and long-term outcomes were reported. Read More

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http://dx.doi.org/10.1093/ibd/izy375DOI Listing
January 2019
1 Read
4.464 Impact Factor

Challenges and pitfalls of investigating duodenal cancer in patients with familial adenomatous polyposis.

Gastrointest Endosc 2019 02;89(2):355-356

Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands; Department of Gastroenterology and Hepatology, Cancer Center Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1016/j.gie.2018.09.044DOI Listing
February 2019
1 Read

Crystal structure of the human Scribble PDZ1 domain bound to the PDZ-binding motif of APC.

FEBS Lett 2019 Jan 19. Epub 2019 Jan 19.

Department of Biochemistry & Genetics, La Trobe Institute for Molecular Science, La Trobe University, Melbourne, Australia.

Scribble (SCRIB) is an important adaptor protein that controls the establishment and maintenance of apico-basal cell polarity. To better understand how SCRIB controls cell polarity signalling via its PDZ domains, we investigated human SCRIB interactions with adenomatous polyposis coli (APC). We show that SCRIB PDZ1, PDZ2 and PDZ3 are the major interactors with the APC PDZ-binding motif (PBM), whereas SCRIB PDZ4 does not show detectable binding to APC. Read More

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http://dx.doi.org/10.1002/1873-3468.13329DOI Listing
January 2019

-6 Linoleic Acid Induces Epigenetics Alterations Associated with Colonic Inflammation and Cancer.

Nutrients 2019 Jan 15;11(1). Epub 2019 Jan 15.

The University of Arizona Cancer Center, Tucson, AZ 85724, USA.

The farnesoid-X-receptor (FXR) protects against inflammation and cancer of the colon through maintenance of intestinal bile acid (BA) homeostasis. Conversely, higher levels of BA and cyclooxygenase-2 (COX-2) are risk factors for inflammation and cancer of the colon. In the United States, -6 linoleic acid (LA) is the most commonly used dietary vegetable fat. Read More

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http://dx.doi.org/10.3390/nu11010171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6356359PMC
January 2019
1 Read

Challenging management of familial adenomatous polyposis with advanced colorectal cancer: laparoscopic partial resection and cold snare polypectomy.

Endosc Int Open 2019 Jan 3;7(1):E49-E52. Epub 2019 Jan 3.

Department of General Surgery, Tokyo-Nishi Tokushukai Hospital, Akishima, Tokyo, Japan.

 Prophylactic extended colectomy may be indicated because most surgically untreated patients with familial adenomatous polyposis (FAP) develop colorectal cancer (CRC) in their lifetime. However, some patients refuse to undergo surgery to avoid degradation of their quality of life. We report that FAP is controllable with laparoscopic partial resection and postoperative polypectomy even when complicated by advanced CRC. Read More

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http://dx.doi.org/10.1055/a-0677-1845DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327744PMC
January 2019
4 Reads

[Small Bowel Tumors and Polyposis: How to Approach and Manage?]

Authors:
Bong Min Ko

Korean J Gastroenterol 2018 Dec;72(6):277-280

Digestive Disease Center and Research Institute, Department of Internal Medicine, Soonchunhyang University College of Medicine, Bucheon, Korea.

Although small bowel the mainly occupies the most part of the gastrointestinal tract, small intestine tumors are rare, insidious in clinical presentation, and frequently represent a diagnostic and management challenge. Small bowel tumors are generally classified as epithelial, mesenchymal, lymphoproliferative, or metastatic. Familial adenomatous polyposis and Peutz-Jeghers syndrome are the most common inherited intestinal polyposis syndromes. Read More

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http://dx.doi.org/10.4166/kjg.2018.72.6.277DOI Listing
December 2018
1 Read

Colorectal cancer: the APC-lncRNA link.

Authors:
Pat J Morin

J Clin Invest 2019 Feb 14;129(2):503-505. Epub 2019 Jan 14.

The adenomatous polyposis coli (APC) gene plays, among other things, a crucial role in the regulation of cell proliferation and survival through its ability to regulate canonical Wnt signaling. In this issue of the JCI, Wang et al. provide an intriguing new mechanism for APC function involving the regulation of a novel long noncoding RNA (lncRNA), leading to changes in exosome production. Read More

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http://dx.doi.org/10.1172/JCI125985DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355233PMC
February 2019
1 Read

Shortcuts to intestinal carcinogenesis by genetic engineering in organoids.

Cancer Sci 2019 Jan 13. Epub 2019 Jan 13.

Department of Molecular Carcinogenesis, Chiba Cancer Center Research Institute, Chiba, Japan.

Inactivation of the Adenomatous polyposis coli (APC) gene is an initiating and the most relevant event in most sporadic cases of colorectal cancer, providing a rationale for using Apc-mutant mice as the disease model. Whereas carcinogenesis has been observed only at the organism level, the recent development of the organoid culture technique has enabled long-term propagation of intestinal stem cells in a physiological setting, raising the possibility that organoids could serve as an alternative platform for modeling colon carcinogenesis. Indeed, it is demonstrated in the present study that lentivirus-based RNAi-mediated knockdown of Apc in intestinal organoids gave rise to subcutaneous tumors upon inoculation in immunodeficient mice. Read More

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http://dx.doi.org/10.1111/cas.13938DOI Listing
January 2019
1 Read

Novel Vaccine Targeting Colonic Adenoma: a Pre-clinical Model.

J Gastrointest Surg 2019 Jan 8. Epub 2019 Jan 8.

Division of Cancer Research, Peter MacCallum Cancer Centre, Melbourne, Victoria, 3000, Australia.

Background: Colorectal cancer (CRC) is the second leading cause of cancer-related mortality in the USA. Over 80% of CRC develop from adenomatous polyps. Hence, early treatment and prevention of adenomas would lead to a significant decrease of disease burden for CRC. Read More

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http://link.springer.com/10.1007/s11605-018-4060-y
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http://dx.doi.org/10.1007/s11605-018-4060-yDOI Listing
January 2019
10 Reads

Circulating tumor DNA alterations in patients with metastatic castration-resistant prostate cancer.

Cancer 2019 Jan 8. Epub 2019 Jan 8.

Hollings Cancer Center, Medical University of South Carolina, Charleston, South Carolina.

Background: Because cell-free DNA (cfDNA) analysis facilitates the noninvasive genomic profiling of metastatic castration-resistant prostate cancer (mCRPC), the authors evaluated the association between cfDNA alterations and outcomes and evolution with therapy.

Methods: Patients with mCRPC underwent cfDNA genomic profiling using Guardant360, which examines major cancer-associated genes. Clinical factors, therapy information, failure-free survival, and overall survival (OS) were obtained for select patients. Read More

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http://dx.doi.org/10.1002/cncr.31959DOI Listing
January 2019
2 Reads

Whole-Genome Sequencing Identifies a Novel Variation of Gene Coordinating With Heterozygous Germline Mutation of to Enhance Hepatoblastoma Oncogenesis.

Front Genet 2018 19;9:668. Epub 2018 Dec 19.

Beijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, MOE Key Laboratory of Major Diseases in Children, Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

Hepatoblastoma (HB), a leading primary hepatic malignancy in children, originates from primitive hepatic stem cells. This study aimed to uncover the genetic variants that are responsible for HB oncogenesis. One family, which includes the healthy parents, and two brothers affected by HB, was recruited. Read More

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http://dx.doi.org/10.3389/fgene.2018.00668DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305990PMC
December 2018
1 Read

Yield of Colonoscopy in Identification of Newly Diagnosed Desmoid-Type Fibromatosis with Underlying Familial Adenomatous Polyposis.

Ann Surg Oncol 2019 Mar 4;26(3):765-771. Epub 2019 Jan 4.

Sarcoma Biology Laboratory and Sarcoma Disease Management Team, Sarcoma Disease Management Program, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Background: Desmoid-type fibromatosis can arise in patients with familial adenomatous polyposis (FAP), therefore patients with desmoids often undergo colonoscopy to rule out FAP. Because finding FAP is uncommon, we sought to define subsets of desmoid patients in whom colonoscopy frequently identified FAP.

Methods: Patients with desmoid-type fibromatosis were identified from surgery and pathology databases at a single institution, and information on colonoscopy and FAP diagnosis was collected retrospectively. Read More

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http://dx.doi.org/10.1245/s10434-018-07138-1DOI Listing
March 2019
2 Reads

Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis.

Fam Cancer 2019 Jan 2. Epub 2019 Jan 2.

GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA.

Biallelic pathogenic variants (PVs) in MUTYH cause MUTYH-Associated Polyposis (MAP), which displays phenotypic overlap with other hereditary colorectal cancer (CRC) syndromes including Familial Adenomatous Polyposis (FAP) and Lynch syndrome. We report the phenotypic spectrum of MAP in the context of multi-gene hereditary cancer panel testing. Genetic testing results and clinical histories were reviewed for individuals with biallelic MUTYH PVs detected by panel testing at a single commercial molecular diagnostic laboratory. Read More

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http://dx.doi.org/10.1007/s10689-018-00116-2DOI Listing
January 2019
1 Read

Endoscopic and Histologic Features Associated with Gastric Cancer in familial adenomatous polyposis.

Gastrointest Endosc 2018 Dec 28. Epub 2018 Dec 28.

Department of Gastroenterology and Hepatology; Department of Colorectal Surgery; Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, Ohio.

Background And Aims: Gastric cancer (GC) is a newly described cancer risk in Western patients with familial adenomatous polyposis (FAP). Little is known about clinical, endoscopic and pathologic features associated with FAP-related GC. We compared these features in FAP patients with and without GC. Read More

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http://dx.doi.org/10.1016/j.gie.2018.12.018DOI Listing
December 2018
1 Read

Hypermethylation of multiple Wnt antagonist genes in gastric neoplasia: Is H pylori infection blasting fuse?

Medicine (Baltimore) 2018 Dec;97(52):e13734

Department of Gastroenterology and Hepatology, Jinling Hospital, Nanjing, Jiangsu Province, China.

Wnt antagonist genes hypermethylation has been found in several tumors. Accordingly, the events that occur during the progression of adenoma to carcinoma have been characterized and include activation of the Wnt-pathway. Further, gastric adenoma (GA) is a premalignant lesion of gastric adenocarcinoma (GAC). Read More

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http://dx.doi.org/10.1097/MD.0000000000013734DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314707PMC
December 2018
1 Read

Striatin is a novel modulator of cell adhesion.

FASEB J 2018 Dec 28:fj201801882R. Epub 2018 Dec 28.

Department of Clinical Microbiology and Immunology, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

The adherens junctions (AJs) and tight junctions (TJs) provide critical adhesive contacts between neighboring epithelial cells and are crucial for epithelial adhesion, integrity, and barrier functions in a wide variety of tissues and organisms. The striatin protein family, which are part of the striatin interaction phosphatases and kinases complex, are multidomain scaffolding proteins that play important biologic roles. We have previously shown that striatin colocalizes with the tumor suppressor protein adenomatous polyposis coli in the TJs of epithelial cells. Read More

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http://dx.doi.org/10.1096/fj.201801882RDOI Listing
December 2018
1 Read

Diffuse Intense Intestinal FDG Activity in a Patient With Familial Adenomatous Polyposis.

Clin Nucl Med 2019 Mar;44(3):262-264

Department of Nuclear Medicine, Zigong First People's Hospital, Zigong, Sichuan, PR China.

Familial adenomatous polyposis is a rare autosomal dominant intestinal syndrome with a high rate of malignant transformation. Here, we report a 20-year-old woman with a diagnosis of familial adenomatous polyposis by pathologic examination after colonoscopy biopsy, who underwent an F-FDG PET/CT to assess the extent of this disease. The images showed diffuse elevated FDG uptake along the entire colorectum. Read More

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http://dx.doi.org/10.1097/RLU.0000000000002438DOI Listing
March 2019
2 Reads

c.1439delA frameshift deletion mutation in familial adenomatous polyposis.

Onco Targets Ther 2018 11;11:8987-8993. Epub 2018 Dec 11.

Department of Gastrointestinal Cancer Surgery, Shandong Cancer Hospital Affiliated to Shandong University, Shandong Academy of Medical Sciences, Jinan 250117, China,

Familial adenomatous polyposis (FAP) is a rare autosomal dominant genetic disease related to germline mutations of the gene. The clinical features of this disease most commonly include hundreds of adenomas or polyps. If not treated in a timely fashion, FAP can eventually result in colorectal carcinoma. Read More

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https://www.dovepress.com/c1439dela-frameshift-deletion-muta
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http://dx.doi.org/10.2147/OTT.S183153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6294057PMC
December 2018
6 Reads

Management of Familial Adenomatous Polyposis in Children and Adolescents: Position Paper from the ESPGHAN Polyposis Working Group.

J Pediatr Gastroenterol Nutr 2018 Dec 19. Epub 2018 Dec 19.

St Mark's Hospital Polyposis Registry UK.

Familial adenomatous polyposis (FAP) is a well-described inherited syndrome, characterised by the development of hundreds to thousands of adenomas in the colorectum, with implications in children and adolescents. Almost all adult patients will develop colorectal cancer (CRC) if they are not identified and treated early enough. Identifying and screening for FAP commences in adolescence. Read More

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http://Insights.ovid.com/crossref?an=00005176-900000000-9660
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http://dx.doi.org/10.1097/MPG.0000000000002247DOI Listing
December 2018
3 Reads

Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine.

J Pathol 2018 Dec 25. Epub 2018 Dec 25.

Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.

This article reviews genes and syndromes associated with predisposition to colorectal cancer (CRC), with an overview of gene variant classification. We include updates on the application of preventive and therapeutic measures, focusing on the use of non-steroidal anti-inflammatory drugs (NSAIDs) and immunotherapy. Germline pathogenic variants in genes conferring high or moderate risk to cancer are detected in 6-10% of all CRCs and 20% of those diagnosed before age 50. Read More

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http://dx.doi.org/10.1002/path.5229DOI Listing
December 2018
3 Reads

Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition.

Genet Med 2018 Dec 21. Epub 2018 Dec 21.

Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.

Purpose: Some 10% of familial adenomatous polyposis (FAP) and 80% of attenuated polyposis (AFAP) cases remain molecularly unexplained. We scrutinized such cases by exome-wide and targeted methods to search for novel susceptibility genes.

Methods: Exome sequencing was conducted on 40 unexplained (mainly sporadic) cases with FAP or AFAP from Finland. Read More

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http://www.nature.com/articles/s41436-018-0405-x
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http://dx.doi.org/10.1038/s41436-018-0405-xDOI Listing
December 2018
41 Reads

Two Czech patients with familial adenomatous polyposis presenting mosaicism in APC gene.

Neoplasma 2018 Dec 12. Epub 2018 Dec 12.

Molecular Diagnostics, Institute of Biology and Medical Genetics of the 1st Medical Faculty, Charles University, Prague, Czech Republic.

During standard molecular diagnostic procedure, two Czech families with APC (Adenomatous polyposis coli gene) mosaicism have been detected. A woman with attenuated familial adenomatous polyposis (AFAP, OMIM #175100) was recently inspected by next generation sequencing. Standard bioinformatics pipeline, restricted to variants with at least 20% of reads (for germline variants) would miss mutation p. Read More

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http://dx.doi.org/10.4149/neo_2018_180731N559DOI Listing
December 2018
1 Read

Cenani-Lenz syndrome and other related syndactyly disorders due to variants in LRP4, GREM1/FMN1, and APC: Insight into the pathogenesis and the relationship to polyposis through the WNT and BMP antagonistic pathways.

Am J Med Genet A 2019 Feb 20;179(2):266-279. Epub 2018 Dec 20.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Cenani-Lenz (C-L) syndrome is characterized by oligosyndactyly, metacarpal synostosis, phalangeal disorganization, and other variable facial and systemic features. Most cases are caused by homozygous and compound heterozygous missense and splice mutations of the LRP4 gene. Currently, the syndrome carries one OMIM number (212780). Read More

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http://doi.wiley.com/10.1002/ajmg.a.60694
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http://dx.doi.org/10.1002/ajmg.a.60694DOI Listing
February 2019
5 Reads

Reduced Plasma Levels of Very-Long-Chain Dicarboxylic Acid 28:4 in Italian and Brazilian Colorectal Cancer Patient Cohorts.

Metabolites 2018 Dec 6;8(4). Epub 2018 Dec 6.

Nano-Inspired Biomedicine Lab, Istituto di Ricerca Pediatrica-Città della Speranza, 35127 Padua, Italy.

Background: There are currently no blood-based biomarkers for early diagnosis of colorectal cancer. Previous research has suggested that very-long-chain dicarboxylic acid (VLCDCA) 28:4 might be such a biomarker.

Methods: Using high-resolution mass spectrometry, we analyzed VLCDCA 28:4 in the plasma of colorectal cancer patients in Italian [ = 62] and Brazilian [ = 52] cohorts. Read More

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http://dx.doi.org/10.3390/metabo8040091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6316647PMC
December 2018
1 Read

Desmoid Fibromatosis Mimicking Metastatic Recurrence After Pancreatectomy for Pancreatic Adenocarcinoma.

Mayo Clin Proc Innov Qual Outcomes 2018 Dec 20;2(4):392-397. Epub 2018 Sep 20.

Department of Radiology, Mayo Clinic, Rochester, MN.

Desmoid fibromatosis is a rare, neoplastic tumor known for its aggressive local invasion and recurrence after surgery. Tumors can occur sporadically or associated with familial adenomatous polyposis. We present 3 cases of desmoid fibromatosis postpancreatectomy for pancreatic adenocarcinoma. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S25424548183008
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http://dx.doi.org/10.1016/j.mayocpiqo.2018.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260471PMC
December 2018
7 Reads

Prevalence of Germline Mutations in Polyposis and Colorectal Cancer-associated Genes in Patients With Multiple Colorectal Polyps.

Clin Gastroenterol Hepatol 2018 Dec 14. Epub 2018 Dec 14.

Ambry Genetics, Aliso Viejo, CA.

Background And Aims: Guidelines recommend genetic testing of patients with 10 or more cumulative adenomatous polyps. However, little is known about the utility of these tests-especially for older patients. We aimed to determine the prevalence of pathogenic mutations in patients with multiple colorectal polyps, stratified by age. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S15423565183138
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http://dx.doi.org/10.1016/j.cgh.2018.12.008DOI Listing
December 2018
9 Reads

Manilkara zapota (L.) P. Royen leaf water extract triggered apoptosis and activated caspase-dependent pathway in HT-29 human colorectal cancer cell line.

Biomed Pharmacother 2019 Feb 13;110:748-757. Epub 2018 Dec 13.

Department of Nutrition and Dietetics, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, 43400 Serdang, Selangor, Malaysia; Research Centre of Excellent, Nutrition and Non-Communicable Diseases (NNCD), Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, 43400 Serdang, Selangor, Malaysia; Laboratory of Molecular Biomedicine, Institute of Bioscience, Universiti Putra Malaysia, 43400 Serdang, Selangor, Malaysia. Electronic address:

Manilkara zapota (L.) P. Royen (Family: Sapotaceae), commonly called as sapodilla, has been applied as traditional folk medicine for diarrhea and pulmonary infections. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S07533322183434
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http://dx.doi.org/10.1016/j.biopha.2018.12.027DOI Listing
February 2019
9 Reads

Acute Pancreatitis Caused by Ampullary Duodenum Adenoma in a Patient with Adenomatous Polyposis Coli with Billroth II Reconstruction After Distal Gastrectomy.

Am J Case Rep 2018 Dec 15;19:1495-1498. Epub 2018 Dec 15.

Department of Gastroenterology, Kita-Harima Medical Center, Ichiba, Ono, Hyogo, Japan.

BACKGROUND Adenomatous polyposis coli is an autosomal dominant hereditary disorder. Duodenal adenocarcinoma and adenoma, which are extracolonic lesions, not only affect the prognosis of patients but also cause acute pancreatitis. CASE REPORT We present the case of a 73-year-old male. Read More

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http://dx.doi.org/10.12659/AJCR.912248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320568PMC
December 2018
3 Reads

The role of PLK1 in cancer exhibiting chromosomal instability.

Mol Cell Oncol 2018 20;5(6):e1485539. Epub 2018 Sep 20.

Department of Gynecology, Goethe-University, Frankfurt, Germany.

Adenomatous polyposis coli (APC) mutations cause aneuploidy and are responsible for familial adenomatous polyposis characterized by chromosomal instability. PLK1 contributes to sustain an intact spindle assembly checkpoint ensuring genomic stability. In our work using independent mouse models we revealed that PLK1 functions as tumor suppressor in APC-mutated colorectal cancers. Read More

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http://dx.doi.org/10.1080/23723556.2018.1485539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276849PMC
September 2018

Targeted next-generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis.

Mol Genet Genomic Med 2018 Dec 6. Epub 2018 Dec 6.

Department of Colorectal Surgery, Tianjin Union Medical Center, Tianjin, China.

Background: Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disease which primarily manifested with developing adenomas or polyps in colon or rectum. It is caused by the germline mutations in adenomatous polyposis coli (APC) gene. Patients with FAP are usually manifested with "hundreds or even thousands" adenomas or polyps in colon or rectum. Read More

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http://dx.doi.org/10.1002/mgg3.505DOI Listing
December 2018
5 Reads

Maxillofacial Radiographic study of Gardner's syndrome presenting with odontogenic myxoma: A rare case report.

Stomatologija 2018 ;20(2):59-64

Department of restorative and periodontology, University of Greifswald, Friedrich Ebert Str. 69, 34119 Kassel, Germany.

Gardner syndrome is an autosomal dominant disease. It is characterized by a combination of familial adenomatous polyposis (FAP) of the intestine with extraintestinal changes as multiple osteomas and fibromas. Odontogenic Myxoma is a benign, aggressive intraosseous neoplasm. Read More

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January 2018
1 Read

Therapeutic potential of targeting the Wnt/β-catenin signaling pathway in colorectal cancer.

Biomed Pharmacother 2019 Feb 6;110:473-481. Epub 2018 Dec 6.

Key Laboratory of Precision Diagnosis and Treatment for Hepatobiliary and Pancreatic Tumor of Zhejiang Province, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China. Electronic address:

Aberrant Wnt/β-catenin signaling has often been reported in different cancers, particularly colorectal cancer (CRC), and this signaling cascade is central to carcinogenesis. Approximately 80% of CRC cases harbor mutations in the adenomatous polyposis coli gene, and half of the remaining cases feature mutations in the β-catenin gene that affect the Wnt/β-catenin signaling pathway. Unsurprisingly, the Wnt/β-catenin signaling pathway has potential value as a therapeutic target in the treatment of CRC. Read More

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http://dx.doi.org/10.1016/j.biopha.2018.11.082DOI Listing
February 2019

Clinical Outcomes After Ileal Pouch-Anal Anastomosis in Pediatric Patients.

J Surg Res 2019 Feb 4;234:72-76. Epub 2018 Oct 4.

Department of Surgery, Indiana University School of Medicine, Indianapolis, Indiana; Division of Pediatric Surgery, Riley Hospital for Children, Department of Surgery, Indiana University, Indianapolis, Indiana. Electronic address:

Background: Ileal pouch-anal anastomosis (IPAA) is the standard surgical reconstruction for patients with familial adenomatous polyposis (FAP) and ulcerative colitis (UC) who undergo total proctocolectomy (TPC). Although patients receive the same reconstruction, their postoperative complications can differ. We hypothesize that indication for TPC and other preoperative clinical factors are associated with differences in postoperative outcomes following IPAA. Read More

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http://dx.doi.org/10.1016/j.jss.2018.09.011DOI Listing
February 2019