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Familial Adenomatous Polyposis

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https://www.readbyqxmd.com/read/28533537/novel-mutations-and-phenotypic-associations-identified-through-apc-mutyh-nthl1-pold1-pole-gene-analysis-in-indian-familial-adenomatous-polyposis-cohort
#1
Nikhat Khan, Anuja Lipsa, Gautham Arunachal, Mukta Ramadwar, Rajiv Sarin
Colo-Rectal Cancer is a common cancer worldwide with 5-10% cases being hereditary. Familial Adenomatous Polyposis (FAP) syndrome is due to germline mutations in the APC or rarely MUTYH gene. NTHL1, POLD1, POLE have been recently reported in previously unexplained FAP cases. Unlike the Caucasian population, FAP phenotype and its genotypic associations have not been widely studied in several geoethnic groups. We report the first FAP cohort from South Asia and the only non-Caucasian cohort with comprehensive analysis of APC, MUTYH, NTHL1, POLD1, POLE genes...
May 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28528517/loss-of-msh2-and-msh6-due-to-heterozygous-germline-defects-in-msh3-and-msh6
#2
Monika Morak, Sarah Käsbauer, Martina Kerscher, Andreas Laner, Anke M Nissen, Anna Benet-Pagès, Hans K Schackert, Gisela Keller, Trisari Massdorf, Elke Holinski-Feder
Lynch Syndrome (LS) is the most common dominantly inherited colorectal cancer (CRC) predisposition and is caused by a heterozygous germline defect in one of the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2. High microsatellite instability (MSI-H) and loss of MMR protein expression in tumours reflecting a defective MMR are indicators for LS, as well as a positive family history of early onset CRC. MSH2 and MSH6 form a major functional heterodimer, and MSH3 is an alternative binding partner for MSH2...
May 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28502729/improving-mutation-screening-in-patients-with-colorectal-cancer-predisposition-using-next-generation-sequencing
#3
Jean-Marc Rey, Vincent Ducros, Pascal Pujol, Qing Wang, Marie-Pierre Buisine, Hanaa Aissaoui, Thierry Maudelonde, Sylviane Olschwang
Identification of genetic alterations is important for family risk assessment in colorectal cancers. Next-generation sequencing (NGS) technologies provide useful tools for single-nucleotide and copy number variation (CNV) identification in many genes and samples simultaneously. Herein, we present the validation of current Multiplicom MASTR designs of mismatch repair combined to familial adenomatous polyposis genes in a single PCR reamplification test for eight DNA samples simultaneously on a MiSeq apparatus...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28490611/extracolonic-cancer-risk-in-dutch-patients-with-apc-adenomatous-polyposis-coli-associated-polyposis
#4
Zeinab Ghorbanoghli, Barbara Aj Bastiaansen, Alexandra Mj Langers, Fokko M Nagengast, Jan-Werner Poley, James Ch Hardwick, Jan J Koornstra, Silvia Sanduleanu, Wouter H de Vos Tot Nederveen Cappel, Ben Jm Witteman, H Morreau, Evelien Dekker, Hans Fa Vasen
BACKGROUND: Screening of patients with familial adenomatous polyposis (FAP) have led to a substantial reduction in mortality due to colorectal cancer (CRC). Recent guidelines suggest that surveillance of non-intestinal malignancies should also be considered in those patients. However, the value of these surveillance programmes is unknown. The aims of this study were (1) to assess the occurrence of extracolonic malignancies in a large series of adenomatous polyposis coli (APC) mutation carriers and (2) to evaluate the causes of death...
May 10, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28484856/-hereditary-gastric-and-pancreatic-cancer
#5
REVIEW
C Langner
Most cases of gastric and pancreatic cancer are sporadic, but familial clustering can be observed in approximately 10% of cases. Hereditary gastric cancer accounts for a very low percentage of cases (1-3%) and two syndromes have been characterized: hereditary diffuse gastric cancer (HDGC) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). Gastric and pancreatic cancer can develop in the setting of other hereditary cancer syndromes, such as hereditary breast and ovarian cancer syndrome (HBOC), Li-Fraumeni syndrome, Lynch syndrome, familial adenomatous polyposis (FAP), or various hamartomatous polyposis syndromes, including juvenile polyposis and Peutz-Jeghers syndrome...
May 8, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28474162/-hereditary-colorectal-cancer-an-update-on-genetics-and-entities-in-terms-of-differential-diagnosis
#6
REVIEW
T T Rau, H Dawson, A Hartmann, J Rüschoff
The pathologist can contribute to recognizing hereditary causes of colorectal cancer via morphology. By identifying so-called index patients, it is possible to take preventive measures in affected families. The precise definition of the clinical presentation and the histopathological phenotype help to narrow the spectrum of expected genetic alterations. Novelties within Lynch syndrome include the recognition of EPCAM as a fifth gene locus, as well as the newly defined Lynch-like syndrome with evidence of somatic mismatch repair (MMR) mutations...
May 4, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28467793/the-different-pathogeneses-of-sporadic-adenoma-and-adenocarcinoma-in-non-ampullary-lesions-of-the-proximal-and-distal-duodenum
#7
Ayumi Niwa, Seiya Kuwano, Hiroyuki Tomita, Keita Kimura, Yukiya Orihara, Tomohiro Kanayama, Kei Noguchi, Kenji Hisamatsu, Takayuki Nakashima, Yuichiro Hatano, Akihiro Hirata, Tatsuhiko Miyazaki, Kazuhiro Kaneko, Takuji Tanaka, Akira Hara
Non-ampullary duodenal adenoma with activation of Wnt/β-catenin signalling is common in familial adenomatous polyposis (FAP) patients, whereas sporadic non-ampullary adenoma is uncommon. The adenoma-carcinoma sequence similar to colon cancer is associated with duodenal tumors in FAP, but not always in sporadic tumors. We obtained 37 non-ampullary duodenal tumors, including 25 adenomas and 12 adenocarcinomas, were obtained from biopsies and endoscopic resections. We performed immunohistochemistry for β-catenin, the hallmark of Wnt activation, and aldehyde dehydrogenase 1 (ALDH1), a putative cancer stem cell marker...
April 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/28462913/a-clinicopathologic-evaluation-of-incidental-fundic-gland-polyps-with-dysplasia-implications-for-clinical-management
#8
Isaac E Lloyd, Wendy K Kohlmann, Keith Gligorich, Amy Hall, Elaine Lyon, Erinn Downs-Kelly, Wade S Samowitz, Mary P Bronner
OBJECTIVES: Fundic gland polyps (FGPs) can rarely exhibit dysplasia of the surface epithelium. Based on retrospective data, FGPs with dysplasia (FGPDs) are thought to be a strong marker for familial adenomatous polyposis (FAP), although sporadic, non-syndromic FGPDs also occur. Owing to the significant syndromic association, diagnosis of an apparently sporadic FGPD may prompt clinical evaluation for FAP, especially its attenuated variant. We sought to evaluate the positive predictive value of incidental FGPDs for FAP...
May 2, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28454282/gastrointestinal-tract-cancers-genetics-heritability-and-germ-line-mutations
#9
Xiao-Peng Lv
Gastrointestinal (GI) tract cancers that arise due to genetic mutations affect a large number of individuals worldwide. Even though many of the GI tract cancers arise sporadically, few of these GI tract cancers harboring a hereditary predisposition are now recognized and well characterized. These include Cowden syndrome, MUTYH-associated polyposis, hereditary pancreatic cancer, Lynch syndrome, Peutz-Jeghers syndrome, familial adenomatous polyposis (FAP), attenuated FAP, serrated polyposis syndrome, and hereditary gastric cancer...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28441855/-correlation-between-mismatch-repair-proteins-status-and-clinicopathological-characteristics-in-sporadic-colorectal-cancer-patients
#10
Z T Xiao, R X Zhang, Y Zhao, J H Peng, S X Lu, H Z Zhang, P R Ding, X J Wu, Z H Lu, L R Li, D S Wan, Z Z Pan, G Chen
Objective: To explore the expression of mismatch repair (MMR) proteins in sporadic colorectal cancer (SCRC) patients, and its association with clinicopathological characteristics of SCRC. Methods: Patients with histologically confirmed colorectal cancer were consecutively recruited between December 2011 and June 2015 at Sun Yat-sen University Cancer Center. The exclusion criteria included multiple primary colorectal tumors, hereditary colorectal cancer (including Lynch syndrome, familial adenomatous polyposis), and the patients without the MMR proteins status tested...
April 25, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28439498/gastric-and-duodenal-polyps-in-familial-adenomatous-polyposis-patients-conventional-endoscopy-vs-virtual-chromoendoscopy-fujinon-intelligent-color-enhancement-in-dysplasia-evaluation
#11
Gabriele Lami, Andrea Galli, Giuseppe Macrì, Emanuele Dabizzi, Maria Rosa Biagini, Mirko Tarocchi, Luca Messerini, Rosa Valanzano, Stefano Milani, Simone Polvani
AIM: To test the fujinon intelligent color enhancement (FICE) in identifying dysplastic or adenomatous polyps in familial adenomatous polyposis (FAP) patients. METHODS: Seventy-six consecutive FAP patients, already treated by colectomy and members of sixty-five families, were enrolled. A FICE system for the upper gastro-intestinal tract with an electronic endoscope system and a standard duodenoscope (for side-viewing examination) were used by two expert examiners...
April 10, 2017: World Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28429649/fundic-gland-polyps-in-the-pediatric-population
#12
Amy Coffey, Kalyani Patel, Norma Quintanilla, Richard Kellermayer, Hao Wu
We retrospectively studied the clinical and histologic features of pediatric fundic gland polyps (FGPs) in 16 patients. FGPs had an endoscopic prevalence of 0.25% in 8527 pediatric gastric biopsies. Five patients had familial adenomatous polyposis (FAP). The median age of onset was 17.7 years in FAP and 17.3 years in sporadic patients. All syndromic patients were asymptomatic and FGPs were identified during surveillance for existing or concurrent colon polyps. They did not take antacids. In comparison, all 11 sporadic FGPs were identified during evaluation of symptomatic patients who had taken antacids (median duration 21 months)...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28429313/gradually-shrinking-intra-abdominal-desmoid-tumor-derived-from-the-stomach-in-a-young-boy-a-case-report
#13
Kazushi Miyata, Masahide Fukaya, Masato Nagino
BACKGROUND: Intra-abdominal desmoid tumors, particularly those derived from the stomach, are rare. Such tumors are associated with a history of familial adenomatous polyposis (FAP), trauma, or surgical procedures in general. In addition, spontaneous shrinking of an intra-abdominal desmoid tumor is rarer. And desmoid tumors most commonly arise during the fourth decade of life. CASE PRESENTATION: A 17-year-old boy with lower abdominal pain was diagnosed with a gastrointestinal stromal tumor (GIST) or a hematoma at a local hospital...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28423518/a-novel-pathogenic-splice-acceptor-site-germline-mutation-in-intron-14-of-the-apc-gene-in-a-chinese-family-with-familial-adenomatous-polyposis
#14
Dan Wang, Shengyun Liang, Zhao Zhang, Guoru Zhao, Yuan Hu, Shengran Liang, Xipeng Zhang, Santasree Banerjee
Familial adenomatous polyposis (FAP) is an autosomal dominant precancerous condition, clinically characterized by the presence of multiple colorectal adenomas or polyps. Patients with FAP has a high risk of developing colorectal cancer (CRC) from these colorectal adenomatous polyps by the mean age of diagnosis at 40 years. Germline mutations of the APC gene cause familial adenomatous polyposis (FAP). Colectomy has recommended for the FAP patients with significant polyposis. Here, we present a clinical molecular study of a four generation Chinese family with FAP...
March 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28418912/human-microrna-expression-in-sporadic-and-fap-associated-desmoid-tumors-and-correlation-with-beta-catenin-mutations
#15
Aldo Cavallini, Maria Teresa Rotelli, Catia Lippolis, Domenico Piscitelli, Rosa Digennaro, Claudia Covelli, Nicola Carella, Matteo Accetturo, Donato Francesco Altomare
Desmoid tumors (DT) are rare, benign, fibroblastic neoplasm with challenging histological diagnosis. DTs can occur sporadically or associated with the familial adenomatous polyposis coli (FAP). Most sporadic DTs are associated with β-catenin gene (CTNNB1) mutations, while mutated APC gene causes FAP disease. microRNAs (miRNAs) are involved in many human carcinogenesis.The miRNA profile was analyzed by microarray in formalin-fixed, paraffin-embedded (FFPE) specimens of 12 patients (8 sporadic, 4 FAP-associated) and 4 healthy controls...
March 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/28413499/identification-a-nonsense-mutation-of-apc-gene-in-chinese-patients-with-familial-adenomatous-polyposis
#16
Haishan Li, Lingling Zhang, Quan Jiang, Zhenwang Shi, Hanxing Tong
Familial adenomatous polyposis (FAP; Mendelian of Inherintance in Man ID, 175100) is a rare autosomal dominant disorder characterized by the development of numerous adenomatous polyps throughout the colon and rectum associated with an increased risk of colorectal cancer. FAP is at time accompanied with certain extraintestinal manifestations such as congenital hypertrophy of the retinal pigment epithelium, dental disorders and desmoid tumors. It is caused by mutations in the adenomatous polyposis coli (APC) gene...
April 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28405717/-differential-indications-for-ileoanal-pouch-anastomosis-ulcerative-colitis-familial-adenomatous-polyposis-synchronous-colorectal-cancer-crohn-s-disease-constipation
#17
A Fürst
Ileoanal pouch anastomosis is the procedure of choice for patients with drug refractory ulcerative colitis, indeterminate colitis and familial adenomatous polyposis (FAP). In selected patient groups this procedure is a treatment option for patients with Crohn's disease, hereditary nonpolyposis colorectal cancer (HNPCC), synchronous colorectal cancer and for severe colorectal constipation refractory to conservative drug treatment. The pouch procedure provides the opportunity to avoid a permanent ileostomy. The majority of surgeons prefer the ileal J‑pouch as the construction is the easiest to perform and complications and dysfunction rates are low...
April 12, 2017: Der Chirurg; Zeitschrift Für Alle Gebiete der Operativen Medizen
https://www.readbyqxmd.com/read/28399346/tumors-and-related-lesions-of-the-pigmented-epithelium
#18
Jerry A Shields, Carol L Shields
Several tumors and pseudotumors can arise from the iris pigment epithelium (IPE), ciliary pigment epithelium (CPE), and retinal pigment epithelium (RPE), including cysts of the IPE, solitary congenital hypertrophy of the RPE (CHRPE), multifocal CHRPE ("bear tracks"), congenital simple hamartoma of the RPE, combined hamartoma of the retina and RPE, and acquired epithelioma of IPE, CPE, and RPE. This article describes examples of pigment epithelial tumors and pseudotumors by reviewing the literature and cases on file in the Oncology Service at Wills Eye Hospital...
March 2017: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/28373404/precancer-atlas-to-drive-precision-prevention-trials
#19
Avrum Spira, Matthew B Yurgelun, Ludmil Alexandrov, Anjana Rao, Rafael Bejar, Kornelia Polyak, Marios Giannakis, Ali Shilatifard, Olivera J Finn, Madhav Dhodapkar, Neil E Kay, Esteban Braggio, Eduardo Vilar, Sarah A Mazzilli, Timothy R Rebbeck, Judy E Garber, Victor E Velculescu, Mary L Disis, Douglas C Wallace, Scott M Lippman
Cancer development is a complex process driven by inherited and acquired molecular and cellular alterations. Prevention is the holy grail of cancer elimination, but making this a reality will take a fundamental rethinking and deep understanding of premalignant biology. In this Perspective, we propose a national concerted effort to create a Precancer Atlas (PCA), integrating multi-omics and immunity - basic tenets of the neoplastic process. The biology of neoplasia caused by germline mutations has led to paradigm-changing precision prevention efforts, including: tumor testing for mismatch repair (MMR) deficiency in Lynch syndrome establishing a new paradigm, combinatorial chemoprevention efficacy in familial adenomatous polyposis (FAP), signal of benefit from imaging-based early detection research in high-germline risk for pancreatic neoplasia, elucidating early ontogeny in BRCA1-mutation carriers leading to an international breast cancer prevention trial, and insights into the intricate germline-somatic-immunity interaction landscape...
April 1, 2017: Cancer Research
https://www.readbyqxmd.com/read/28331559/tumor-suppressor-genes-in-familial-adenomatous-polyposis
#20
REVIEW
Nahal Eshghifar, Naser Farrokhi, Tahereh Naji, Mohammadreza Zali
Colorectal cancer (CRC) is mostly due to a series of genetic alterations that are being greatly under the influence of the environmental factors. These changes, mutational or epigenetic modifications at transcriptional forefront and/or post-transcriptional effects via miRNAs, include inactivation and the conversion of proto-oncogene to oncogenes, and/or inactivation of tumor suppressor genes (TSG). Here, a thorough review was carried out on the role of TSGs with the focus on the APC as the master regulator, mutated genes and mal-/dysfunctional pathways that lead to one type of hereditary form of the CRC; namely familial adenomatous polyposis (FAP)...
2017: Gastroenterology and Hepatology From Bed to Bench
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