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Familial polyposis

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https://www.readbyqxmd.com/read/29785019/cribriform-morular-variant-of-thyroid-carcinoma-a-neoplasm-with-distinctive-phenotype-associated-with-the-activation-of-the-wnt-%C3%AE-catenin-pathway
#1
REVIEW
José Manuel Cameselle-Teijeiro, Diego Peteiro-González, Javier Caneiro-Gómez, María Sánchez-Ares, Ihab Abdulkader, Catarina Eloy, Miguel Melo, Isabel Amendoeira, Paula Soares, Manuel Sobrinho-Simões
Cribriform-morular variant of thyroid carcinoma is classically associated with familial adenomatous polyposis but, it can also occur as a sporadic neoplasm. This neoplasm is much more frequently observed in women than in men (ratio of 61:1). In familial adenomatous polyposis patients, tumors are generally multifocal and/or bilateral (multinodular appearance), whereas in the sporadic cases tumors tend to occur as single nodules. The tumors are well delimited, and characteristically show a blending of follicular, cribriform, papillary, trabecular, solid, and morular patterns...
May 21, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29778545/a-descriptive-model-for-a-multidisciplinary-unit-for-colorectal-and-pelvic-malformations
#2
Alejandra Vilanova-Sanchez, Devin R Halleran, Carlos A Reck-Burneo, Alessandra C Gasior, Laura Weaver, Meghan Fisher, Andrea Wagner, Onnalisa Nash, Kristina Booth, Kaleigh Peters, Charae Williams, Sarah Mayer Brown, Peter Lu, Molly Fuchs, Karen Diefenbach, Jeffrey R Leonard, Geri Hewitt, Kate McCracken, Carlo Di Lorenzo, Richard J Wood, Marc A Levitt
INTRODUCTION: Patients with anorectal malformations (ARM), Hirschsprung disease (HD), and colonic motility disorders often require care from specialists across a variety of fields, including colorectal surgery, urology, gynecology, and GI motility. We sought to describe the process of creating a collaborative process for the care of these complex patients. METHODS: We developed a model of a devoted center for these conditions that includes physicians, psychologists, social workers, nurses, and advanced practice nurses...
April 19, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29773837/microbial-networking-in-cancer-when-two-toxins-collide
#3
EDITORIAL
Sarah Tomkovich, Christian Jobin
A recent study by Dejea et al. has demonstrated that two enterotoxigenic bacteria frequently associated with sporadic colorectal cancer, Bacteroides fragilis and pks+ Escherichia coli, are found together in biofilms on tissue from patients with familial adenomatous polyposis. In preclinical mouse models, these two bacteria and their corresponding toxins work synergistically to promote colon cancer.
May 18, 2018: British Journal of Cancer
https://www.readbyqxmd.com/read/29771800/left-sided-dominance-of-early-onset-colorectal-cancers-a-rationale-for-screening-flexible-sigmoidoscopy-in-the-young
#4
Lior Segev, Matthew F Kalady, James M Church
BACKGROUND: National databases show a recent significant increase in the incidence of colorectal cancer in people younger than 50. With current recommendations to begin average-risk screening at age 50, these patients do not have the opportunity to be screened. We hypothesized that most of the cancers among the young would be left sided, which would create an opportunity for screening the young by flexible sigmoidoscopy. OBJECTIVE: This study aims to analyze the anatomic distribution of sporadic colorectal cancers in patients under the age of 50...
May 15, 2018: Diseases of the Colon and Rectum
https://www.readbyqxmd.com/read/29768363/ex-vivo-resection-and-intestinal-autotransplantation-for-a-large-mesenteric-desmoid-tumor-secondary-to-familial-adenomatous-polyposis-a-case-report-and-literature-review
#5
Chao Cheng, Shuang Guo, Dakinah Eastman G B Kollie, Wanli Zhang, Jun Xiao, Jun Liu, Xiaoming Lu, Yong Xiao
RATIONALE: The mesenteric desmoid tumor requires special attention and the most demanding treatment. PATIENT CONCERNS: Here we present a rare case of a large mesenteric desmoid tumor secondary to familial adenomatous polyposis (FAP) in a 34-year-old man accepted the ex vivo resection, and intestinal autotransplantation. DIAGNOSES: A 34-year-old man was referred to our department with a 6-year history of intermittent hematochezia without any other discomfort after undergoing partial colectomy in February 2013, and 5 endoscopic mucosal resections of colon polyps between May 2012 and July 2015 due to pathological diagnosis of FAP...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29751773/an-unusual-finding-in-a-desmoid-type-fibromatosis-of-the-pancreas-a-case-report-and-review-of-the-literature
#6
Joseph Clarence Torres, Chen Xin
BACKGROUND: Desmoid-type fibromatoses are rare benign and fibrous tumors that account for approximately 0.03% of total neoplasms. Within this category of neoplasms, pancreatic desmoid-type fibromatosis is an extremely rare subgroup, accounting for approximately 5% of desmoid-type fibromatoses. Although the etiology is unknown, some risk factors include trauma, surgery, family history of desmoid tumor, pregnancy, use of contraceptives, genetic mutation, and familial adenomatous polyposis or Gardner syndrome...
May 12, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29746250/cellular-assays-for-studying-the-fe-s-cluster-containing-base-excision-repair-glycosylase-mutyh-and-homologs
#7
Chandrima Majumdar, Nicole N Nuñez, Alan G Raetz, Cindy Khuu, Sheila S David
Many DNA repair enzymes, including the human adenine glycosylase MUTYH, require iron-sulfur (Fe-S) cluster cofactors for DNA damage recognition and subsequent repair. MUTYH prokaryotic and eukaryotic homologs are a family of adenine (A) glycosylases that cleave A when mispaired with the oxidatively damaged guanine lesion, 8-oxo-7,8-dihydroguanine (OG). Faulty OG:A repair has been linked to the inheritance of missense mutations in the MUTYH gene. These inherited mutations can result in the onset of a familial colorectal cancer disorder known as MUTYH-associated polyposis (MAP)...
2018: Methods in Enzymology
https://www.readbyqxmd.com/read/29739023/the-clinical-significance-and-synchronous-polyp-burden-of-large-%C3%A2-20-mm-sessile-serrated-polyps-in-patients-without-serrated-polyposis-syndrome
#8
Lobke Desomer, David J Tate, Mahesh Jayanna, Maria Pellise, Halim Awadie, Nicholas G Burgess, Duncan McLeod, Hema Mahajan, Eric Y T Lee, Stephen J Williams, Michael J Bourke
BACKGROUND:  Sessile serrated polyps (SSPs) are important precursors of colorectal carcinoma and interval cancer. Large SSPs (≥ 20 mm) outside the definition of serrated polyposis syndrome (SPS) have not been studied in comparison with SPS. We aimed to describe the characteristics of patients with large SSPs in this context. METHODS:  Patients with at least one SSP (≥ 20 mm) were eligible. Data from three consecutive colonoscopies were used to compare clinical and endoscopic characteristics in three patient groups: SPS, a solitary large SSP, and patients with at least two SSPs without fulfilling the criteria for SPS (oligo-SSP)...
May 8, 2018: Endoscopy
https://www.readbyqxmd.com/read/29736107/sigmoid-colon-perforation-mimics-a-tuboovarian-absces
#9
Cemile Dayangan Sayan, Mahmut Ilkin Yeral, Zehra Sema Ozkan, Gokhan Karaca, Nese Asal, Oktay Aydın, Nevin Sagsoz
Introduction: An adnexal mass may be diagnosed after a routine pelvic ultrasonographic examination or an emergent hospital admission due to rupture of ectopic pregnancy, adnexal torsion or rupture of tuboovarian abscess. It is necessary to evaluate the origin of the mass initially and to classify patients who need further evaluation and treatment for an urgent condition. Case presentation: We report a case of sigmoid colon rupture due to sigmoid colon adenocarcinoma presenting as acute abdomen with left adnexal mass in a 28 years old woman...
April 2018: Medical Archives
https://www.readbyqxmd.com/read/29720902/translational-research-in-familial-colorectal-cancer-syndromes
#10
REVIEW
Molly M Ford
Growing knowledge of inherited colorectal cancer syndromes has led to better surveillance and better care of this subset of patients. The most well-known entities, including Lynch syndrome and familial adenomatous polyposis, are continually being studied and with the advent of more sophisticated genetic testing, additional genetic discoveries have been made in the field of inherited cancer. This article will summarize many of the updates to both the familiar and perhaps less familiar syndromes that can lead to inherited or early-onset colorectal cancer...
May 2018: Clinics in Colon and Rectal Surgery
https://www.readbyqxmd.com/read/29720405/-smad4-dpc4
#11
REVIEW
Aoife J McCarthy, Runjan Chetty
Smad4 or DPC4 belongs to a family of signal transduction proteins that are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor beta (TGF-β) signaling via several pathways. The gene acts as a tumour suppressor gene and inactivation of smad4/DPC4 is best recognised in pancreatic cancer. However, smad4/DPC4 is also mutated in other conditions and cancers such as juvenile polyposis syndrome with and without hereditary haemorrhagic telangiectasia, colorectal and prostate cancers...
May 2, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29719120/hepatoblastoma-in-patients-with-molecularly-proven-familial-adenomatous-polyposis-clinical-characteristics-and-rationale-for-surveillance-screening
#12
REVIEW
Angela D Trobaugh-Lotrario, Dolores López-Terrada, Peng Li, James H Feusner
Familial adenomatous polyposis (FAP) due to APC mutation is associated with an increased risk of hepatoblastoma. All cases of hepatoblastoma in patients with FAP reported in the literature were reviewed. One hundred and nine patients were identified. Thirty-five patients (of 49 with data) were diagnosed with hepatoblastoma prior to a later diagnosis of FAP (often in association with advanced colorectal carcinoma), emphasizing a need to identify patients earlier with germline APC mutations for early colorectal carcinoma screening...
May 2, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29713679/risk-factors-for-advanced-duodenal-and-ampullary-adenomatosis-in-familial-adenomatous-polyposis-a-prospective-single-center-study
#13
M Sulbaran, F G Campos, U Ribeiro, H S Kishi, P Sakai, E G H de Moura, L Bustamante-López, M Tomitão, S C Nahas, I Cecconello, A V Safatle-Ribeiro
Background and study aims:  To determine the clinical features associated with advanced duodenal and ampullary adenomas in familial adenomatous polyposis. Secondarily, we describe the prevalence and clinical significance of jejunal polyposis. Patients and methods:  This is a single center, prospective study of 62 patients with familial adenomatous polyposis. Duodenal polyposis was classified according to Spigelman and ampullary adenomas were identified. Patients with Spigelman III and IV duodenal polyposis underwent balloon assisted enteroscopy...
May 2018: Endoscopy International Open
https://www.readbyqxmd.com/read/29710228/immune-profiling-of-premalignant-lesions-in-patients-with-lynch-syndrome
#14
Kyle Chang, Melissa W Taggart, Laura Reyes-Uribe, Ester Borras, Erick Riquelme, Reagan M Barnett, Guido Leoni, F Anthony San Lucas, Maria T Catanese, Federica Mori, Maria G Diodoro, Y Nancy You, Ernest T Hawk, Jason Roszik, Paul Scheet, Scott Kopetz, Alfredo Nicosia, Elisa Scarselli, Patrick M Lynch, Florencia McAllister, Eduardo Vilar
Importance: Colorectal carcinomas in patients with Lynch syndrome (LS) arise in a background of mismatch repair (MMR) deficiency, display a unique immune profile with upregulation of immune checkpoints, and response to immunotherapy. However, there is still a gap in understanding the pathogenesis of MMR-deficient colorectal premalignant lesions, which is essential for the development of novel preventive strategies for LS. Objective: To characterize the immune profile of premalignant lesions from a cohort of patients with LS...
April 16, 2018: JAMA Oncology
https://www.readbyqxmd.com/read/29702101/the-impact-of-chromoendoscopy-for-surveillance-of-the-duodenum-in-patients-with-mutyh-associated-polyposis-and-familial-adenomatous-polyposis
#15
Joanna J Hurley, Laura E Thomas, Sarah-Jane Walton, Siwan Thomas-Gibson, Adam Haycock, Noriko Suzuki, Matthew Mort, Geraint Williams, Meleri Morgan, Susan K Clark, Julian R Sampson, Sunil Dolwani
BACKGROUND AND AIMS: Duodenal polyposis and cancer have become a key issue for patients with familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP). Almost all patients with FAP will develop duodenal adenomas, with 5% developing cancer. The incidence of duodenal adenomas in MAP appears to be lower than in FAP but the limited available data suggest a comparable increase in the relative risk and lifetime risk of duodenal cancer. Current surveillance recommendations, however, are the same for FAP and MAP, using the Spigelman score--incorporating polyp number, size, dysplasia, and histology--for risk stratification and determination of surveillance intervals...
April 24, 2018: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/29696324/cribriform-morular-variant-of-papillary-thyroid-carcinoma-clinical-and-pathological-features-of-30-cases
#16
Junko Akaishi, Tetsuo Kondo, Kiminori Sugino, Yuna Ogimi, Chie Masaki, Kiyomi Y Hames, Tomonori Yabuta, Chisato Tomoda, Akifumi Suzuki, Kenichi Matsuzu, Takashi Uruno, Keiko Ohkuwa, Wataru Kitagawa, Mitsuji Nagahama, Ryohei Katoh, Koichi Ito
BACKGROUND: Cribriform-morular variant of papillary thyroid carcinoma (CMV-PTC) is rare; it may occur in cases of familial adenomatous polyposis (FAP) or be sporadic. To clarify the clinicopathological features of CMV-PTC, the medical records of these patients were investigated retrospectively. MATERIALS AND METHODS: Between 1979 and 2016, a total of 17,062 cases with PTC underwent initial surgery at Ito Hospital. Of these, 30 (0.2%) cases histologically diagnosed with CMV-PTC were reviewed...
April 25, 2018: World Journal of Surgery
https://www.readbyqxmd.com/read/29688472/management-of-pouchitis-and-other-common-complications-of-the-pouch
#17
Robin L Dalal, Bo Shen, David A Schwartz
Restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA) has become the preferred surgical treatment for refractory or complicated ulcerative colitis (UC) and familial adenomatous polyposis (FAP). Pouchitis is the most common complication of this procedure and can occur in about 50% of patients. Treatment of pouchitis depends on the phenotype of disease. Pouchitis can be classified as acute, chronic/refractory, or secondary pouchitis, which includes pouchitis occurring due to Crohn's disease (CD)...
April 23, 2018: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/29671617/oxazole-and-thiazole-analogs-of-sulindac-for-cancer-prevention
#18
Bini Mathew, Judith V Hobrath, Michele C Connelly, R Kiplin Guy, Robert C Reynolds
AIM: Experimental and epidemiological studies and clinical trials suggest that nonsteroidal anti-inflammatory drugs possess antitumor potential. Sulindac, a widely used nonsteroidal anti-inflammatory drug, can prevent adenomatous colorectal polyps and colon cancer, especially in patients with familial adenomatous polyposis. Sulindac sulfide amide (SSA) is an amide-linked sulindac sulfide analog that showed in vivo antitumor activity in a human colon tumor xenograft model. Results/methodology: A new analog series with heterocyclic rings such as oxazole or thiazole at the C-2 position of sulindac was prepared and screened against prostate, colon and breast cancer cell lines to probe the effect of these novel substitutions on the activity of sulindac analogs...
April 19, 2018: Future Medicinal Chemistry
https://www.readbyqxmd.com/read/29663106/prevalence-of-thyroid-diseases-in-familial-adenomatous-polyposis-a-systematic-review-and-meta-analysis
#19
Jirat Chenbhanich, Amporn Atsawarungruangkit, Sira Korpaisarn, Tanit Phupitakphol, Soravis Osataphan, Prasit Phowthongkum
Thyroid cancer (TC) is a known extra-intestinal manifestation and contributes to the mortality and morbidity in patients with familial adenomatous polyposis (FAP). Its exact prevalence is not well established and recent studies have shown an increasing number of TC in this patient population. The prevalence of benign thyroid masses and endocrinologic thyroid disorders are also poorly described. We conducted a systematic review and meta-analysis by using a random-effects model to characterize TC and estimated the prevalence of thyroid diseases in FAP patients...
April 16, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29650924/-endoscopy-assisted-partial-duodenal-resection-for-duodenal-adenoma-in-a-patient-with-familial-adenomatous-polyposis
#20
Tomoaki Hirashima, Shinobu Ohnuma, Hideaki Karasawa, Kazuhiro Watanabe, Hirofumi Imoto, Takeshi Aoki, Katsuyoshi Kudoh, Naoki Tanaka, Munenori Nagao, Hiroaki Musha, Fuyuhiko Motoi, Takashi Kamei, Takeshi Naitoh, Michiaki Unno
We here report a case of endoscopy-assisted partial duodenal resection for duodenal adenoma in a patient with familial adenomatous polyposis(FAP). A male underwent total proctocolectomy with ileal pouch anal anastomosis in 1997. Since 2004, duodenal adenomas occurred and the atypical grade of adenoma was gradually aggravated. Therefore, he underwent endoscopy-assisted partial duodenal resection in 2013. The pathological finding of the specimen showed well-differentiated tubular adenocarcinoma(pM, ly0, v0). No recurrence has been observed at 4 years after the operation...
March 2018: Gan to Kagaku Ryoho. Cancer & Chemotherapy
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