Lynch syndrome is the most common form of hereditary colorectal cancer and is associated with an increased incidence of endometrial cancer, small bowel cancer, and other malignancies. The advent of immune checkpoint blockade, next-generation sequencing, and precision medicine molecular tumor boards have revolutionized the current treatment landscape for many cancers and allowed for more creative approaches to treating patients. In addition, tissue agnostic approvals have also served as valid treatment options for patients with otherwise untreatable cancers. In this report, we discuss the case of a 70-year-old woman with Lynch syndrome found to have retroperitoneal lymphadenopathy with p16-negative squamous cell carcinoma, diagnosed as carcinoma of unknown primary (CUP). To our knowledge, this is the first report of Lynch syndrome-associated squamous cell CUP. More research is needed on newly emerging cancer presentations in Lynch syndrome patients as they achieve longer lifespans.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8212847 | PMC |
| http://dx.doi.org/10.7759/cureus.15690 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Hereditary colorectal cancer syndromes and inflammatory bowel disease: results from a registry-based study.
Int J Colorectal Dis
January 2025
Hereditary Digestive Tract Tumors Unit, Fondazione IRCCS Istituto Nazionale Dei Tumori, Via Giacomo Venezian 1, 20133, Milan, Italy.
Purpose: In this study, we investigated the progression of high-grade dysplasia (HGD)/CRC in patients with hereditary colorectal cancer syndromes (HCSS) and concomitant inflammatory bowel diseases (IBDs).
Methods: We described the natural history of a series of patients with confirmed diagnosis of hereditary colorectal cancer syndromes (HCCSs) and concomitant IBDs who were referred to the Hereditary Digestive Tumors Registry at the Fondazione IRCCS Istituto Nazionale dei Tumori of Milan.
Results: Between January 1989 and April 2024, among 450 patients with APC-associated polyposis and 1050 patients with Lynch syndrome (LS), we identified six patients with IBDs (five with UC, one with ileal penetrating CD) and concomitant HCCSs (five with LS, one with APC-associated polyposis).
The Relationship Between a Mediterranean Diet and Frailty in Older Adults: NHANES 2007-2017.
Nutrients
January 2025
Department of Nutrition, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Background: Frailty is a geriatric syndrome of significant public health concern that causes vulnerability to physiologic stressors and an increased risk of mortality and hospitalizations. Dietary intake and quality are contributing factors to the development of frailty. The Mediterranean diet is known to be one of the healthiest eating patterns with promising health impacts for prevention.
View Article and Find Full Text PDFLynch Syndrome-Impact of the Type of Deficient Mismatch Repair Gene Mutation on Diagnosis, Clinical Presentation, Surveillance and Therapeutic Approaches.
Medicina (Kaunas)
January 2025
Department of Surgery, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania.
In today's world, with its continuing advancements in genetics, the identification of Lynch syndrome (LS) increasingly relies on sophisticated genetic testing techniques. Most guidelines recommend a tailored surveillance program, as well as personalized prophylactic and therapeutic approaches, according to the type of dMMR gene mutation. Carriers of path_MLH1 and path_MSH2 genes have a higher risk of developing colorectal cancer (CRC), despite intensive colonoscopic surveillance.
View Article and Find Full Text PDFFertility-sparing treatment outcomes using immune checkpoint inhibitors in endometrial cancer patients with Lynch syndrome.
J Gynecol Oncol
January 2025
Department of Gynecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China.
Objective: To evaluate the efficacy of immune checkpoint inhibitors (ICIs) for fertility-sparing treatment in Lynch syndrome-associated endometrial cancer (LS-EC).
Methods: Four LS-EC cases received programmed cell death protein 1 (PD-1) inhibitors for fertility preservation at the Obstetrics and Gynecology Hospital of Fudan University from 2017 to 2023. The clinical data and long-term outcomes were retrospectively reviewed.
Colorectal carcinogenesis in the Lynch syndromes and familial adenomatous polyposis: trigger events and downstream consequences.
Hered Cancer Clin Pract
January 2025
Division of Cancer and Genetics, Cardiff University School of Medicine, Heath Park, Cardiff, CF14 4XN, UK.
Carcinogenesis encompasses processes that lead to increased mutation rates, enhanced cellular division (tumour growth), and invasive growth. Colorectal cancer (CRC) carcinogenesis in carriers of pathogenic APC (path_APC) and pathogenic mismatch repair gene (path_MMR) variants is initiated by a second hit affecting the corresponding wild-type allele. In path_APC carriers, second hits result in the development of multiple adenomas, with CRC typically emerging after an additional 20 years.
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!