AI Article Synopsis
- - Small intestine-neuroendocrine tumors (SI-NETs) are common tumors in the small bowel, with an increasing incidence, but the reasons behind their development are still unclear.
- - Recent studies suggested a potential link between SI-NETs and genetic conditions like Lynch syndrome and MUTYH variants, which could influence treatment options.
- - However, this study found that none of the 64 SI-NETs displayed deficiencies in mismatch repair genes or MUTYH hotspot variants, indicating no association with these genetic factors and suggesting that future research should explore other potential causes of SI-NETs.
Article Abstract
Small intestine-neuroendocrine tumors (SI-NETs) are one of the most common tumors of the small bowel. Despite an increasing incidence, the exact mechanisms driving underlying pathology remain to be determined. Interestingly, recent studies linked the development of (SI-)NETs to both Lynch syndrome (LS) and MUTYH variants. If confirmed, these associations would have important consequences for treatment. In this study we therefore investigated the prevalence of mismatch repair (MMR) deficiency and MUTYH variants in 64 primary resected SI-NETs. Immunohistochemistry was used to assess the expression of the MMR genes, and competitive allele-specific PCR (KASPar) targeting two hotspot MUTYH variants [p.(Tyr179Cys), p.(Gly396Asp)] was performed to determine their prevalence in SI-NETs. Strikingly, all 64 SI-NETs stained positive for MSH6 and PMS2, indicating MMR proficiency. In addition, no MUTYH hotspot variant was found in any of the 64 SI-NETs. As such, these results do not support an association between SI-NET development and LS or MUTYH variants. In order to gain insight into SI-NET pathogenesis and optimally manage patients, future research should therefore focus on other candidate genes.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.humpath.2022.04.003 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia.
Int J Mol Sci
November 2024
Engelhardt Institute of Molecular Biology, the Russian Academy of Sciences, 119991 Moscow, Russia.
Assessments of breast cancer (BC) risk in carriers of pathogenic variants identified by gene panel testing in different populations are highly in demand worldwide. We performed target sequencing of 78 genes involved in DNA repair in 860 females with BC and 520 age- and family history-matched controls from Central Russia. Among BC patients, 562/860 (65.
View Article and Find Full Text PDFIncreased frequency of germline pathogenic variants among individuals with dermatofibrosarcoma protuberans.
Genet Med Open
September 2024
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD.
Purpose: To identify candidate susceptibility genes for dermatofibrosarcoma protuberans (DFSP).
Methods: All individuals with DFSP from the International Sarcoma Kindred Study ( = 3767 individuals with sarcoma diagnoses from Australia, Europe, New Zealand, and United States) and cohorts that were not ascertained based on sarcoma status or other phenotypes (Geisinger MyCode, = 170,503 individuals, United States; UK Biobank, = 469,789 individuals, United Kingdom) were evaluated for germline pathogenic or likely pathogenic (P/LP) variants in 156 cancer genes.
Results: There were 92 unrelated individuals with DFSP across the 3 cohorts.
Four pathogenic variants co-occurring in a MINAS early-onset breast cancer.
Tumori
December 2024
Centre for Inherited Diseases, Department of Research, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Introduction: Multilocus Inherited Neoplasia Allele Syndrome (MINAS) is a condition defined by the presence of germline pathogenic variants in more than one Cancer Susceptibility Gene (CSG). MINAS is still underreported in the literature and public databases. Since MINAS-related phenotypes are difficult to predict, case descriptions may contribute to risk assessment, treatment, and personalized surveillance for proband and relatives.
View Article and Find Full Text PDFDetection of Genetic Variations in Children with Tetralogy of Fallot Using Whole Exome Sequencing Technology Integrated Bioinformatics Analysis.
Genet Test Mol Biomarkers
December 2024
Department of Cardiac Surgery, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, No. 3333 Binsheng Road, Hangzhou, China.
Tetralogy of Fallot (TOF) is the most common cyanotic heart defect in newborns, with a complex etiology and genetic variation considered to be one of the main pathogenic factors. Identifying genetic variations associated with TOF has important clinical value for understanding its pathogenesis, patient susceptibility, and prognosis of patients with TOF. Therefore, this study aimed to identify potential pathogenic genes of TOF through comprehensive genetic analysis.
View Article and Find Full Text PDFHomologous recombination deficiency in pancreatic neuroendocrine tumors.
Future Oncol
December 2024
Division of Oncology, Department of Oncology & Hematology, University Hospital of Modena, Modena, Italy.
Pancreatic Neuroendocrine tumors (pNETs) are a heterogeneous group of neoplasms whose tumor biology is still little known. Thanks to next-generation sequencing, pathogenic mutations in base-excision-repair gene and homologous recombination genes and seem to have a role in the development of pNETs. We assumed that Homologous Recombination Deficiency (HRD) could be a critical pathogenetic mechanism for pNETs.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!