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Familial polyposis

Monika Raab, Mourad Sanhaji, Yves Matthess, Albrecht Hörlin, Ioana Lorenz, Christina Dötsch, Nils Habbe, Oliver Waidmann, Elisabeth Kurunci-Csacsko, Ron Firestein, Sven Becker, Klaus Strebhardt
The spindle assembly checkpoint (SAC) acts as a molecular safeguard in ensuring faithful chromosome transmission during mitosis, which is regulated by a complex interplay between phosphatases and kinases including PLK1. Adenomatous polyposis coli (APC) germline mutations cause aneuploidy and are responsible for familial adenomatous polyposis (FAP). Here we study the role of PLK1 in colon cancer cells with chromosomal instability promoted by APC truncation (APC-ΔC). The expression of APC-ΔC in colon cells reduces the accumulation of mitotic cells upon PLK1 inhibition, accelerates mitotic exit and increases the survival of cells with enhanced chromosomal abnormalities...
March 16, 2018: Nature Communications
Suzanne M Mahon
People with multiple polyps may have a germline mutation that places them at higher risk for developing colorectal, gastrointestinal, and other cancers. Genetic testing can often identify the specific polyposis syndrome and provide insight into appropriate recommendations for cancer prevention and early detection. Individuals with hereditary polyposis syndromes often begin developing polyps in their teenage years and require aggressive gastrointestinal surveillance to remove polyps. For some, the polyp burden will be too high to manage endoscopically and will require risk-reducing colectomies...
April 1, 2018: Clinical Journal of Oncology Nursing
Shigeo Yamaguchi, Tomoaki Fujii, Yuki Izumi, Yuki Fukumura, Min Han, Hideki Yamaguchi, Tomomi Akita, Chikamasa Yamashita, Shunsuke Kato, Takao Sekiya
During next generation sequencing (NGS) analysis, many missense mutations were found in a well-known oncogene, many of which were variant of uncertain significance mutations. We recently treated an adult patient with pancreatoblastoma by chemotherapy. Using an NGS cancer panel, we found a previously unreported missense mutation in the 1835 codon of the adenomatous polyposis coli ( APC ) gene. We also found a heterogeneous mutation in the 1835 codon of the APC gene in the patient's germline by Sanger sequencing...
February 13, 2018: Oncotarget
Debra Ford
No abstract text is available yet for this article.
March 7, 2018: American Journal of Surgery
Edward E Cornwell
On March 19-20, 2017; Howard University hosted a Festschrift inspired by Dr. Leffall's writings (Fig. 1). The celebrants highlighted the broad spectrum of Dr. Leffall's contributions in mentorship, leadership in American Surgery, breast cancer, endocrine cancer, pancreatic cancer, and familial polyposis coli. Perhaps most inspirational was the awe inspiring consistency the presenters demonstrated in describing the personal characteristics Dr. Leffall brings to his academic discourse: his encyclopedic knowledge and recall, his charm, eloquence, humility, and his total dedication to the patient, his students, and trainees...
December 12, 2017: American Journal of Surgery
Danielle P Thurtle, Michael B Huck, Kristen A Zeller, Tamison Jewett
BACKGROUND: Trisomy 13 is one of the most common autosomal trisomies, and although increasing in number, patients surviving past the neonatal period remain rare. The natural history and expected complications in these patients as they age remains unknown. Despite the rarity of this condition, unusual malignancies have been reported in the medical literature for decades. It is clear that providers should suspect unusual malignancies in these patients, particularly as they age. CASE PRESENTATION: We report a 20-year-old Caucasian woman with Trisomy 13 who presented with colonic volvulus, found to have colonic polyposis and adenocarcinoma of the colon...
March 4, 2018: Journal of Medical Case Reports
Tomasy Sarosiek, Małgorzata Stelmaszuk
Small intestine tumors are rarely diagnosed as they constitute only 0.6% of all malignant tumors, including about 1-3% of malignant neoplasms of the gastrointestinal tract. They also advocate for 0.2% of deaths caused by malignant tumors. Factors that increase the risk of disease include Crohn's disease, familial adenomatous polyposis (FAP), Lynch syndrome (HNPCC - hereditary non-polyposis colorectal cancer), Peuz-Jeghers syndrome, celiac disease and acquired immunodeficiency syndrome (AIDS). Diagnosis of small intestinal tumors is difficult because the symptoms reported by patients are not characteristic...
February 23, 2018: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
Haibo Qiu, Zhiwei Zhou
The National Comprehensive Cancer Network (NCCN) issued the clinical practice guidelines for gastric cancer 2017 edition version 5, which has been fully updated for the treatment of gastric cancer, including systematic treatment, surgery and radiotherapy. This article review and summarize the updated NCCN clinical practice guidelines for gastric cancer in 2017 and try to interpret it. (1)Biomarkers: mismatch repair defect (dMMR) or high microsatellite instability (MSI-H), programmed death ligand 1 (PD-L1) and tumor Epstein Barr virus (EBV) status should be considered for patients with gastric cancer...
February 25, 2018: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
Bini Mathew, Judith V Hobrath, Michele C Connelly, R Kiplin Guy, Robert C Reynolds
Background: Sulindac belongs to the chemically diverse family of Non-Steroidal Anti-Inflammatory Drugs (NSAIDs) that effectively prevent adenomatous colorectal polyps and colon cancer, especially in patients with familial adenomatous polyposis. Sulindac sulfide amide (SSA), an amide analog of sulindac sulfide, shows insignificant COX-related activity and toxicity while enhancing anticancer activity in vitro and demonstrating in vivo xenograft activity. Objective: Develop structure-activity relationships in the sulindac amine series and identify analogs with promising anticancer activities...
2018: Open Medicinal Chemistry Journal
S J Walton, G Malietzis, S K Clark, E Havranek
The aim of this retrospective cohort study was to review urological complication rates arising from familial adenomatous polyposis associated desmoid tumours and their management. All patients over a 35-year period were identified from a prospectively maintained polyposis registry database and had an intra-abdominal desmoid tumour. Those without ureteric complications (n = 118, group A) were compared to those that developed ureteric obstruction (n = 40, group B) for demographics, treatment interventions and survival outcomes...
February 27, 2018: Familial Cancer
Aodhnait S Fahy, Christopher R Moir
Colorectal adenomatous polyposis syndromes encompass a diverse group of disorders with varying modes of inheritance and penetrance. Children may present with overt disease or within screening programs for families at high risk. We provide an overview of the array of pediatric polyposis syndromes, current screening recommendations, and surgical indications and technical considerations. Optimal disease management for these pediatric patients is still evolving and has implications for screening, surveillance, pediatric surgical management, and transition of care gastroenterologic neoplasia physicians and surgeons...
March 2018: Clinics in Colon and Rectal Surgery
Marie Lorans, Eryn Dow, Finlay A Macrae, Ingrid M Winship, Daniel D Buchanan
Colorectal cancer (CRC), one of the most common cancers, is a major public health issue globally, especially in Westernized countries. Up to 35% of CRCs are thought to be due to heritable factors, but currently only 5% to 10% of CRCs are attributable to high-risk mutations in known CRC susceptibility genes, predominantly the mismatch repair genes (Lynch syndrome) and adenomatous polyposis coli gene (APC; familial adenomatous polyposis). In this era of precision medicine, high-risk mutation carriers, when identified, can be offered various risk management options that prevent cancers and improve survival, including risk-reducing medication, screening for early detection, and surgery...
January 11, 2018: Clinical Colorectal Cancer
Hendrikus J Dubbink, Iris H I M Hollink, Carolina Avenca Valente, Wenhui Wang, Pengyu Liu, Michail Doukas, Max M van Noesel, Winand N M Dinjens, Anja Wagner, Ron Smits
BACKGROUND: The Wnt/β-catenin pathway plays a central role in the pathogenesis of most hepatoblastomas (HBs), that is, up to 60-80% carry activating CTNNB1 mutations. HBs can however also be the first manifestation of familial adenomatous polyposis (FAP). As this is a severe disease, it is important for the patient and related family members to firmly exclude FAP at an early stage. Current diagnosis largely depends on APC germline mutation detection on genomic DNA, which is associated with 10-20% false-negative results...
February 15, 2018: Pediatric Blood & Cancer
(no author information available yet)
Colonic biofilms may accelerate tumorigenesis in patients with familial adenomatous polyposis (FAP).
February 9, 2018: Cancer Discovery
Shana F Straub, Michael G Drage, Raul S Gonzalez
AIM: Dysplastic FGPs (d-FGPs) typically arise in patients with familial adenomatous polyposis (FAP) but may occur in nonsyndromic patients. They rarely develop malignancy, but their significance is unclear, especially in nonsyndromic patients. APC/β-catenin alterations have been implicated in their pathogenesis, and β-catenin immunohistochemistry (IHC) may show nuclear positivity. METHODS AND RESULTS: We identified 124 FGPs with low-grade dysplasia (LGD) or high-grade dysplasia (HGD) or indefinite for dysplasia (IFD) from 66 patients (27 with FAP, 39 nonsyndromic)...
February 12, 2018: Histopathology
N Jewel Samadder, Scott K Kuwada, Kenneth M Boucher, Kathryn Byrne, Priyanka Kanth, Wade Samowitz, David Jones, Sean V Tavtigian, Michelle Westover, Therese Berry, Kory Jasperson, Lisa Pappas, Laurel Smith, Danielle Sample, Randall W Burt, Deborah W Neklason
Importance: Patients with familial adenomatous polyposis (FAP) are at markedly increased risk for colorectal polyps and cancer. A combination of sulindac and erlotinib led to a 71% reduction in duodenal polyp burden in a phase 2 trial. Objective: To evaluate effect of sulindac and erlotinib on colorectal adenoma regression in patients with FAP. Design, Setting, and Participants: Prespecified secondary analysis for colorectal adenoma regression was carried out using data from a double-blind, randomized, placebo-controlled trial, enrolling 92 patients with FAP, conducted from July 2010 to June 2014 in Salt Lake City, Utah...
February 8, 2018: JAMA Oncology
Nielce Maria Paiva, Lívia Bitencourt Pascoal, Leandro Minatel Vidal Negreiros, Mariana Portovedo, Andressa Coope, Maria de Lourdes Setsuko Ayrizono, Claudio Saddy Rodrigues Coy, Marciane Milanski, Raquel Franco Leal
Total retocolectomy with ileal pouch-anal anastomosis (IPAA) is the surgery of choice for patients with ulcerative colitis (UC) that are refractory to clinical treatment. Pouchitis is one of the most common complications after this procedure. Defects in autophagy have been reported in inflammatory bowel diseases. However, there are no studies on the IP. Therefore, we studied markers for autophagy in the IP mucosa of UC and FAP patients comparing them to controls with a normal distal ileum. Sixteen patients with IP in "J" shape, asymptomatic and with endoscopically normal IP were evaluated...
February 8, 2018: Scientific Reports
Christine M Dejea, Payam Fathi, John M Craig, Annemarie Boleij, Rahwa Taddese, Abby L Geis, Xinqun Wu, Christina E DeStefano Shields, Elizabeth M Hechenbleikner, David L Huso, Robert A Anders, Francis M Giardiello, Elizabeth C Wick, Hao Wang, Shaoguang Wu, Drew M Pardoll, Franck Housseau, Cynthia L Sears
Individuals with sporadic colorectal cancer (CRC) frequently harbor abnormalities in the composition of the gut microbiome; however, the microbiota associated with precancerous lesions in hereditary CRC remains largely unknown. We studied colonic mucosa of patients with familial adenomatous polyposis (FAP), who develop benign precursor lesions (polyps) early in life. We identified patchy bacterial biofilms composed predominately of Escherichia coli and Bacteroides fragilis Genes for colibactin ( clbB ) and Bacteroides fragilis toxin ( bft ), encoding secreted oncotoxins, were highly enriched in FAP patients' colonic mucosa compared to healthy individuals...
February 2, 2018: Science
Chenguang Shang, Linzhi Liu, Xiaohui Wang, Ying Dong, Yan Zhang
OBJECTIVE To report on concurrent mutations of APC and MLH1 genes identified in a family affected with familial adenomatous polyposis(FAP). METHODS The proband was diagnosed with FAP based on her clinical manifestation, family history and histopathology examination. She developed endometrial epithelial neoplasia(EIN) two years later. With peripheral blood samples collected from her and members of her family, genomic DNA was extracted, and mutations of the APC and MLH1 genes were analyzed by Sanger sequencing...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Ryohei Takei, Ichiro Onishi, Ryosuke Zaimoku, Naoki Makita, Yasumichi Yagi, Masato Kayahara
BACKGROUND Primary small bowel cancer is a rare malignancy; the common histopathological types are carcinoid and adenocarcinoma. Inflammatory bowel diseases and familial adenomatous polyposis are known risk factors for small bowel cancer. Additionally, cases of surgery-induced small bowel adenocarcinoma are sometimes reported after ileostomy. CASE REPORT A 84-year-old woman, who had undergone ileotransversostomy for intestinal obstruction due to postoperative adhesion following appendectomy at the age of 31 years, was referred to our hospital for further examination after experiencing abdominal pain in the right lower quadrant for 2 weeks...
February 6, 2018: American Journal of Case Reports
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