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A Novel Mutation of < em > MSH2 < /em > Gene in a Patient with Lynch Syndrome Presenting with Thirteen Metachronous Malignancies
J Clin Med. 2023 Aug 24;12(17):5502. doi: 10.3390/jcm12175502.ABSTRACTLynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), accounts for 2-3% of all colorectal cancers. This autosomal dominant disorder is associated with a predisposition to endometrial, stomach, small bowel, pancreatic, biliary tract, ovary, urinary tract, brain, and skin tumors. Lynch syndrome is caused by the mutation of the MLH1, MSH2 (EPCAM), MSH6, and PMS2 genes. In this article, a case study of a 70-year-old female patient with Lynch syndrome is presented. Over a span of 30 years, the patient underwent multiple surgica...
Source: Clinical Colorectal Cancer - September 9, 2023 Category: Cancer & Oncology Authors: Ugne Silinskaite Edita Gavelien ė Rokas Stulpinas Ramunas Janavicius Tomas Poskus Source Type: research

Epidemiology and risk factors of pancreatic cancer.
Abstract The most frequent pancreatic cancer is pancreatic adenocarcinoma. It has high and early locally and distant invasiveness; this is the reason why it often shows little sign or symptoms in early stage and poor prognosis after the diagnosis, frequently in advanced stage. Although it is possible to detect this tumor in early stage because of its neoplastic precursor (PanINs). Epidemiological data shows that pancreatic cancer is not very common but obvious it is one of the most neoplastic death-cause in the world. The trend of incidence is quite increasing through years, proportionally to the increase of risk ...
Source: Acta Bio-Medica : Atenei Parmensis - December 17, 2018 Category: General Medicine Authors: Capasso M, Franceschi M, Rodriguez-Castro KI, Crafa P, Cambiè G, Miraglia C, Barchi A, Nouvenne A, Leandro G, Meschi T, De' Angelis GL, Di Mario F Tags: Acta Biomed Source Type: research

Diffuse large B-cell lymphoma with microsatellite instability developing in the setting of Muir-Torre variant hereditary non-polyposis colon cancer
We report a patient with a Muir–Torre variant HNPCC who subsequently developed DLBCL. An elderly patient with a history of Muir–Torre variant HNPCC presented with abdominal pain, worsening over the preceding 1–2 months, with associated weight loss of 5 kg. The past medical history included metachronous rectal, colonic adenocarcinomas, pancreatic and jejunal...
Source: Journal of Clinical Pathology - August 18, 2015 Category: Pathology Authors: Cheah, C. Y., Dsouza, L., Taggart, M. W., Schlette, E. J., Turturro, F. Tags: PostScript Source Type: research

Intraductal papillary mucinous neoplasm of the ileal heterotopic pancreas in a patient with hereditary non-polyposis colorectal cancer: A case report.
We report a case of intraductal papillary mucinous neoplasm (IPMN) originating from the ileal heterotopic pancreas in a patient with hereditary non-polyposis colorectal cancer (HNPCC). A 49-year-old woman had a past history of total colectomy and total hysterectomy with bilateral salpingo-oophorectomy due to colonic adenocarcinoma and endometrial adenocarcinoma 11 years ago. Her parents died from colonic adenocarcinoma and her sister died from colonic adenocarcinoma and endometrial adenocarcinoma. The clinician found an ileal mass with necrotic change and the mass increased in size from 1.7 cm to 2.2 cm during the past 2 y...
Source: World Journal of Gastroenterology : WJG - July 7, 2015 Category: Gastroenterology Authors: Lee SH, Kim WY, Hwang DY, Han HS Tags: World J Gastroenterol Source Type: research

Muir-Torre Syndrome and founder Mismatch Repair genes mutations: A long gone historical genetic challenge.
Abstract A "cancer predisposing syndrome" later labeled as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) or Lynch syndrome, was firstly described by Warthin, about one century ago. An increased predisposition to the development of multiple familial tumors is described as characteristic of this syndrome where visceral and cutaneous malignancies may appear at an early age namely endometrial, gastric, small bowel, ureteral and renal pelvis, ovarian, hepatobiliary tract, pancreatic, brain (Turcot Syndrome) and sebaceous glands (Muir-Torre Syndrome). The latter, a variant of Lynch Syndrome, is characterized by the...
Source: Gene - July 1, 2015 Category: Genetics & Stem Cells Authors: Ponti G, Manfredini M, Tomasi A, Pellacani G Tags: Gene Source Type: research

Familial Pancreatic Cancer: Challenging Diagnostic Approach and Therapeutic Management
Conclusions However, the optimal age of initial screening remains undefined. Furthermore, a multidisciplinary assessment is required to determine whether surgical interventions should be performed at high-volume specialty centers. The aim of this study is to collect all the recent information considering the genetic basis, screening protocols, and treatment of FPC in order to provide an update on the current contemporary concepts of therapeutic management of the disease.
Source: International Journal of Gastrointestinal Cancer - September 1, 2014 Category: Cancer & Oncology Source Type: research

International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer
Conclusions Screening is recommended for high-risk individuals, but more evidence is needed, particularly for how to manage patients with detected lesions. Screening and subsequent management should take place at high-volume centres with multidisciplinary teams, preferably within research protocols.
Source: Gut - January 31, 2013 Category: Gastroenterology Authors: Canto, M. I., Harinck, F., Hruban, R. H., Offerhaus, G. J., Poley, J.-W., Kamel, I., Nio, Y., Schulick, R. S., Bassi, C., Kluijt, I., Levy, M. J., Chak, A., Fockens, P., Goggins, M., Bruno, M., on behalf of the International Cancer of the Pancreas Screeni Tags: Pancreas and biliary tract, Open access, Colon cancer, Pancreatic cancer, Intestinal cancer Guidelines Source Type: research