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
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
External quality assessment for the molecular detection of microsatellite instability in China, 2021-2022
CONCLUSION: The molecular detection of MSI in China exhibited an improvement in a 2-year EQA study. Participation in EQA program is an efficient way of assessing the performance of laboratories and improving their ability.PMID:37682059 | DOI:10.1080/14737159.2023.2257133 (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - September 8, 2023 Category: Laboratory Medicine Authors: Xueliang Wang Xiaoyu Fan Qianming Bai Chunli Shi Yanqun Xiao Source Type: research
Organoids and metastatic orthotopic mouse model for mismatch repair-deficient colorectal cancer
ConclusionsThe established organoids with characteristics of MSI-H cancers can be used to study MMRd cancer biology. The orthotopic model, with its distant metastasis and expressing frameshift peptides, is suitable for evaluating the efficacy of neoantigen-based vaccines or anticancer drugs in combination with other therapies. (Source: Frontiers in Oncology)
Source: Frontiers in Oncology - September 8, 2023 Category: Cancer & Oncology Source Type: research
Rechallenge With Switching Immune Checkpoint Inhibitors Following Autoimmune Myocarditis in a Patient With Lynch Syndrome
J Natl Compr Canc Netw. 2023 Sep;21(9):894-899. doi: 10.6004/jnccn.2023.7029.ABSTRACTImmune checkpoint inhibitors (ICIs) induce profound benefits in cancer patients with mismatch repair gene mutations or high levels of microsatellite instability. Herein, we present a case of a patient with history of Muir-Torre/Lynch syndrome and metastatic gastric adenocarcinoma in the presence of an MSH2 gene mutation. The patient was initially treated with a PD-1 inhibitor, pembrolizumab, but developed grade 4 myocarditis requiring treatment with infliximab and a prolonged steroid taper. Following discontinuation of pembrolizumab, surve...
Source: Journal of the National Comprehensive Cancer Network : JNCCN - September 6, 2023 Category: Cancer & Oncology Authors: Cody Eslinger Daniel Walden Timothy Barry Shimoli Shah Niloy Jewel Samadder Tanios S Bekaii-Saab Source Type: research
