APC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposis
AbstractFamilial 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 theAPC mutations are de novo mutations. Somatic mosaicism has been reported in some sporadic cases of polyposis but is probably an underestimated cause of the disease. This case report presents the detection of a mosaicAPC mutation in a 26-year-old woman who as a child had been diagnosed with desmoid type fibromatosis. FAP was suggested when she presented with extensive extra abdominal fibromatosis. Our findings indicate thatAPC mutations may be suspected in patients presenting with a desmoid regardless of its location. If there is clinical evidence that the patient has FAP, adenomas and colonic mucosa in addition to leukocyte DNA should be included in the screening, preferably using methods that are more sensitive than Sanger sequencing.
Abstract In this work, the as-prepared V2O5 nanobelts can sensitively quench the fluorescence of nitrogen-doped carbon dots (N-CDs) based on the inner filter effect (IFE). In the presence of ascorbic acid (AA), the fluorescence of N-CDs can recover through the redox reaction between V2O5 nanobelts and AA. Meanwhile, in the presence of both alkaline phosphatase (ALP) and ascorbyl-2-phosphate (AAP), the fluorescence of N-CDs can also restore since AAP can be hydrolyzed into AA by ALP. Under optimum conditions, the linear range for AA is from 0.01 to 2.5 μM with a detection limit of 3 nM and that for ALP is fr...
Chem. Commun., 2019, Accepted Manuscript DOI: 10.1039/C9CC07253E, CommunicationXuehan Yin, Ting Hou, Bingzheng Huang, Limin Yang, Feng Li We developed an aptamer recognition-trigged label-free homogeneous electrochemical biosensing method for highly selective and ultrasensitive detection of cancer-derived exosomes. The content of this RSS Feed (c) The Royal Society of Chemistry
ConclusionsPhysical and psychological functioning, pain, fatigue and appetite loss had prognostic significance above and beyond clinical predictors in CRC. Routine monitoring of these PROs may allow earlier detection and amelioration of problems, which may improve quality of life and perhaps extend survival. More research is needed to determine prognostic value of PROs in early-stage CRC, and prognostic significance of changes in PRO scores.
ConclusionsThe experience of changes in taste was common yet highly variable in its presentation and resultant changes in food preferences. Taste changes did not always resolve soon after treatment completion. Future research should identify ways to manage this symptom in pediatric cancer patients.
Synchronous cancer in patients with abdominal aortic aneurysm (AAA) increases their morbidity and mortality after AAA repair. However, little is known about the history of cancer in AAA patients and its impact on mortality after AAA repair. We analyzed the incidence and type of cancer history in patients who underwent AAA repair and difference in short- and long-term mortality.
This review highlights new radiological technologies with potential for improving oncologic management and reducing toxicity of treatment for older adults with cancer.Age and Ageing
ConclusionThe isolated compounds showing promising anti-inflammatory and antiproliferative activity could be considered for acceleration in research for development of diterpenoids based anti-inflammatory agents.
Publication date: Available online 19 October 2019Source: Acta Pharmaceutica Sinica BAuthor(s): Yue Wang, Zihui Fang, Mei Hong, Da Yang, Wen XieAbstractDrug metabolism is an orchestrated process in which drugs are metabolized and disposed through a series of specialized enzymes and transporters. Alterations in the expression and/or activity of these enzymes and transporters can affect the bioavailability (pharmacokinetics, or PK) and therapeutic efficacy (pharmacodynamics, or PD) of drugs. Recent studies have suggested that the long non-coding RNAs (lncRNAs) are highly relevant to drug metabolism and drug resistance, inclu...