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Family adenomatous polyposis

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https://www.readbyqxmd.com/read/29454559/update-on-hereditary-colorectal-cancer-improving-the-clinical-utility-of-multigene-panel-testing
#1
REVIEW
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
https://www.readbyqxmd.com/read/29446530/a-novel-tissue-based-%C3%A3-catenin-gene-and-immunohistochemical-analysis-to-exclude-familial-adenomatous-polyposis-among-children-with-hepatoblastoma-tumors
#2
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
https://www.readbyqxmd.com/read/29439154/tumorigenic-colonic-bacteria-may-promote-early-neoplasia
#3
(no author information available yet)
Colonic biofilms may accelerate tumorigenesis in patients with familial adenomatous polyposis (FAP).
February 9, 2018: Cancer Discovery
https://www.readbyqxmd.com/read/29436014/comparison-of-dysplastic-fundic-gland-polyps-in-patients-with-and-without-familial-adenomatous-polyposis
#4
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
https://www.readbyqxmd.com/read/29423501/association-of-sulindac-and-erlotinib-vs-placebo-with-colorectal-neoplasia-in-familial-adenomatous-polyposis-secondary-analysis-of-a-randomized-clinical-trial
#5
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
https://www.readbyqxmd.com/read/29422639/ileal-pouch-of-ulcerative-colitis-and-familial-adenomatous-polyposis-patients-exhibit-modulation-of-autophagy-markers
#6
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
https://www.readbyqxmd.com/read/29420293/patients-with-familial-adenomatous-polyposis-harbor-colonic-biofilms-containing-tumorigenic-bacteria
#7
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
https://www.readbyqxmd.com/read/29419868/-concurrent-apc-and-mlh1mutations-identified-in-a-family-affected-with-familial-adenomatous-polyposis
#8
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
https://www.readbyqxmd.com/read/29402880/adenocarcinoma-in-a-blind-loop-of-the-ileum-53-years-after-an-ileotransversostomy-procedure
#9
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
https://www.readbyqxmd.com/read/29397239/hereditary-gastrointestinal-carcinomas-and-their-precursors-an-algorithm-for-genetic-testing
#10
REVIEW
Clothaire P E Spoto, Irene Gullo, Fatima Carneiro, Elizabeth A Montgomery, Lodewijk A A Brosens
Recognition of hereditary forms of gastrointestinal cancer is of great importance for patients and their families and pathologists play a crucial role in this. This review recapitulates the clinical, pathological and molecular aspects of Hereditary Diffuse Gastric Cancer and Gastric Adenocarcinoma and Proximal Polyposis of the Stomach, as well as hereditary colorectal cancer syndromes such as Lynch syndrome and gastrointestinal polyposis syndromes (including Familial Adenomatous Polyposis, Peutz-Jeghers syndrome and Juvenile Polyposis syndrome)...
January 31, 2018: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/29395463/uncovering-hereditary-tumor-syndromes-emerging-role-of-surgical-pathology
#11
REVIEW
Abbas Agaimy, Arndt Hartmann
With the increased use of modern next generation sequencing technologies in routine molecular pathology practice, the proportion of cancer cases with a definite or probable hereditary background seems to be steadily increasing. Currently, it is assumed that ≥10% of all malignancies develop in the setting of germline predisposition. Diagnosis and recognition of cancer predisposition syndromes relies not rarely on distinctive histopathological features that proved to be highly valuable and reproducible in uncovering those diseases that would otherwise have gone undetected by clinicians as being hereditary in nature...
January 29, 2018: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/29394742/-a-case-of-duodenal-cancer-with-familial-adenomatous-polyposis
#12
Takafumi Yachi, Taiichi Wakiya, Keinosuke Ishido, Daisuke Kudo, Norihisa Kimura, Kenichi Hakamada
A 34-year-old man was diagnosed with familial adenomatous polyposis(FAP)in September 2011, and he underwent endoscopic mucosal resection(EMR)due to multiple polyps in the duodenum and small intestine. Three months later, duodenal cancer was found, and he underwent a subsequent EMR. The pathological findings showed residual cancer cells in the lateral margin; therefore, EMR was performed again. Total colectomy and partial resection of the small intestine was performed in December 2012. Esophagogastroduodenoscopy(EGD)was then performed every 3-6 months, and EMR was performed 4 times...
November 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/29394664/-the-characteristics-and-treatment-outcomes-for-desmoid-tumors-associated-with-familial-adenomatous-polyposis
#13
Kunihiko Amano, Noriyasu Chika, Tetsuya Ito, Azusa Yamamoto, Satoshi Hatano, Toru Ishiguro, Minoru Fukuchi, Youichi Kumagai, Keiichiro Ishibashi, Erito Mochiki, Takeo Iwama, Hidetaka Eguchi, Koji Okazaki, Shigehisa Inokuma, Hideyuki Ishida
INTRODUCTION: The characteristics of desmoid tumors(DTs)associated with familial adenomatous polyposis(FAP)and relationships between the development of DTs and the sites of APC germline mutation have not closely been examined Japan. PATIENTS AND METHODS: This retrospective study was performed to address these issues by examining patients with FAP who underwent proctocolectomy between 1981 and 2015. RESULTS: The cumulative 2-year incidence of DT development was 50%...
November 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/29377868/characteristics-of-adrenal-masses-in-familial-adenomatous-polyposis
#14
Jonah S Shiroky, Jordan P Lerner-Ellis, Anand Govindarajan, David R Urbach, Karen M Devon
BACKGROUND: Adrenal masses are a known extraintestinal manifestation of familial adenomatous polyposis. However, the literature on this association is largely confined to case reports. OBJECTIVE: This study aimed to determine the characteristics of adrenal masses in familial adenomatous polyposis and their clinical significance, as well as to estimate their prevalence. Mutational analysis was conducted to determine if any potential genotype-phenotype correlations exist...
January 24, 2018: Diseases of the Colon and Rectum
https://www.readbyqxmd.com/read/29373909/congenital-hypertrophy-of-retinal-pigment-epithelium-for-diagnosis-of-familial-adenomatous-polyposis-the-first-fap-registry-in-iran
#15
Seyed Kazem Mirinezhad, Farideh Mousavi, Masood Baghri, Bita Sepehri, Ali Ghavidel, Morteza Ghojazadeh, Mohammad Hossein Somi
Objective: Familial adenomatous polyposis (FAP), an autosomal dominant inherited disorder is characterized by the presence of multiple adenomatous colorectal polyps, which can develop into cancer during early adulthood. Therefore, early diagnosis is essential. Most FAP patients have several extracolonic manifestations, including congenital hypertrophy of the retinal pigment epithelium (CHRPE). Whereas genetic markers may provide the main route to detection of ‘‘at risk’’ subjects , at present this approach is clearly limited and searches for a noninvasive phenotypic marker continue to be high priority...
January 27, 2018: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/29368299/autophagic-flux-is-essential-for-the-downregulation-of-d-dopachrome-tautomerase-by-atractylenolide-i-to-ameliorate-intestinal-adenoma-formation
#16
Lu Li, Linlin Jing, Junjiang Wang, Wenjuan Xu, Xianling Gong, Yiye Zhao, Ye Ma, Xueqing Yao, Xuegang Sun
Colorectal cancer is generally believed to progress through an adenoma - carcinoma sequence. Adenomatous polyposis coli (APC) mutations serve as the initiating event in adenoma formation. The Apc Min/+ mouse harbors a mutation in the APC gene, which is similar or identical to the mutation found in individuals with familial adenomatous polyposis and 70% of all sporadic CRC cases. Autophagy is a constitutive process required for proper cellular homeostasis. However, its role in intestinal adenoma formation is still controversial...
January 24, 2018: Journal of Cell Communication and Signaling
https://www.readbyqxmd.com/read/29368261/apc-mosaicism-in-a-young-woman-with-desmoid-type-fibromatosis-and-familial-adenomatous-polyposis
#17
Astrid Tenden Stormorken, Thomas Berg, Ole-Jacob Norum, Toto Hølmebakk, Kristin Aaberg, Sonja E Steigen, Eli Marie Grindedal
Familial adenomatous polyposis (FAP) is usually caused by germline mutations in the adenomatous polyposis coli (APC) gene. The classic form is characterized by hundreds to thousands of adenomas in the colorectum and early onset colorectal cancer (CRC) if left untreated. FAP is also associated with multiple extra-colonic manifestations such as gastroduodenal polyps, osteomas, epidermoid cysts, fibromas and desmoids. Most desmoid tumours in FAP patients occur intra-abdominally. Approximately 15-20% of the APC mutations are de novo mutations...
January 24, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29367705/somatic-apc-mosaicism-and-oligogenic-inheritance-in-genetically-unsolved-colorectal-adenomatous-polyposis-patients
#18
Michele Ciavarella, Sara Miccoli, Anna Prossomariti, Tommaso Pippucci, Elena Bonora, Francesco Buscherini, Flavia Palombo, Roberta Zuntini, Tiziana Balbi, Claudio Ceccarelli, Franco Bazzoli, Luigi Ricciardiello, Daniela Turchetti, Giulia Piazzi
Germline variants in the APC gene cause familial adenomatous polyposis. Inherited variants in MutYH, POLE, POLD1, NTHL1, and MSH3 genes and somatic APC mosaicism have been reported as alternative causes of polyposis. However, ~30-50% of cases of polyposis remain genetically unsolved. Thus, the aim of this study was to investigate the genetic causes of unexplained adenomatous polyposis. Eight sporadic cases with >20 adenomatous polyps by 35 years of age or >50 adenomatous polyps by 55 years of age, and no causative germline variants in APC and/or MutYH, were enrolled from a cohort of 56 subjects with adenomatous colorectal polyposis...
January 24, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29365422/-consensus-on-clinical-diagnosis-treatment-and-pedigree-management-of-hereditary-colorectal-cancer-in-china
#19
(no author information available yet)
Hereditary colorectal cancer can be divded into two categories based on the presence or absence of polyps. The first category is characterized by the development of polyposis, which includes familial adenomatous polyposis (FAP); The second category is nonpolyposis colorectal cancer, which is represented by Lynch syndrome. "Consensus on clinical diagnosis, treatment and pedigree management of hereditary colorectal cancer in China" developed by the Genetics Group of the Committee of Colorectal Cancer, Chinese Anti-cancer Association, is composed of three sections, including hereditary nonpolyposis syndrome, polyposis syndrome as well as genetic evaluation of hereditary colorectal cancer...
January 23, 2018: Zhonghua Zhong Liu za Zhi [Chinese Journal of Oncology]
https://www.readbyqxmd.com/read/29365221/colorectal-cancer-screening-and-surveillance-in-individuals-at-increased-risk
#20
Thad Wilkins, Danielle McMechan, Asif Talukder, Alan Herline
Individuals at increased risk of developing colorectal cancer include those with a personal or family history of advanced adenomas or colorectal cancer, a personal history of inflammatory bowel disease, or genetic polyposis syndromes. In general, these persons should undergo more frequent or earlier testing than individuals at average risk. Individuals who have a first-degree relative with colorectal cancer or advanced adenoma diagnosed before 60 years of age or two first-degree relatives diagnosed at any age should be advised to start screening colonoscopy at 40 years of age or 10 years younger than the earliest diagnosis in their family, whichever comes first...
January 15, 2018: American Family Physician
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