Introduction And Importance: Although synchronous and metachronous tumours of the bowel are well known associations of Lynch syndrome, the association of skin malignancies in such patients are extremely rare.
Case Presentation: A 40-year-old Sri Lankan man with a strong family history of colorectal cancer had an extended right hemicolectomy for a moderately differentiated adenocarcinoma. Two months after surgery, he developed two discrete ulcerative skin lesions in the chin and occipital region which excision biopsy confirmed to be squamous cell carcinoma. After more than two years of follow-up, patient remains disease free.
Clinical Discussion: The Muir Torre variant of Lynch syndrome is characteristically associated with sebaceous adenomas and carcinomas, though occurence of squamous cell carcinomas are rare. In reported cases, defective mismatch repair genes associated with Lynch syndrome may suggest an increased predisposition for squamous cell carcinomas.
Conclusion: Patients with Lynch syndrome should be educated on the importance of seeking an early medical consult for new skin lesions and raising awareness of this rare phenomenon for physicians involved in follow up is important.
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http://dx.doi.org/10.1016/j.ijscr.2022.107822 | DOI Listing |
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).
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 PDFMedicina (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 PDFJ 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.
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.
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