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Cutaneous manifestations can serve as early and sometimes the first clinical indicators in various hereditary cancer predisposition syndromes. This review provides a comprehensive overview of the dermatological signs associated with these syndromes, aiming to facilitate their recognition in clinical practice. Hereditary Breast and Ovarian Cancer syndrome is notably linked to an increased risk of melanoma. BAP1 tumor predisposition syndrome is characterized by BAP1-inactivated melanocytic tumors. Muir-Torre syndrome, a variant of Lynch syndrome, presents with distinctive cutaneous neoplasms such as sebaceous carcinomas, sebaceous adenomas, and keratoacanthomas. PTEN hamartoma tumor syndrome commonly features hamartomatous growths, trichilemmomas, acral keratoses, oral papillomas, and genital lentiginosis. Gorlin syndrome is marked by basal cell carcinomas and palmoplantar pits, while Peutz-Jeghers syndrome is identified by mucocutaneous pigmentation. In familial adenomatous polyposis, the cutaneous findings include epidermoid cysts, fibromas, desmoid tumors, and lipomas. Additionally, we examined monogenic disorders associated with cancer risk and skin involvement, such as xeroderma pigmentosum, neurofibromatosis type 1, familial atypical multiple-mole melanoma syndrome, and Fanconi anemia. The early recognition of these dermatologic features is essential for a timely diagnosis and the implementation of appropriate surveillance strategies in individuals with hereditary cancer syndromes.
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http://dx.doi.org/10.3390/ijms26136140 | DOI Listing |
Inn Med (Heidelb)
September 2025
Klink für Innere Medizin, Gastroenterologie und Diabetologie, Niels-Stensen-Kliniken Marienhospital Osnabrück, Osnabrück, Deutschland.
Helicobacter pylori was first characterized as an obligate bacterial pathogen in 1983. Since then, substantial advances have been made in understanding the pathophysiology of H. pylori infection, optimizing diagnostic and therapeutic strategies, and expanding testing and treatment-including in the prevention of gastric malignancies.
View Article and Find Full Text PDFCancer Med
September 2025
Pädiatrie 5 (Onkologie, Hämatologie, Immunologie), Stuttgart Cancer Center, Zentrum für Kinder-, Jugend- und Frauenmedizin, Klinikum Stuttgart - Olgahospital, Stuttgart, Germany.
Purpose: Teleangiectatic osteosarcoma is a histologic subtype of osteosarcoma that can mimic aneurysmal bone cysts and has so far been incompletely characterized.
Patients And Methods: We used the database of the Cooperative Osteosarcoma Study Group COSS (patient-registration 1980-2019) to better understand this rare histologic variant.
Results: 223 eligible patients were identified, 164 having reference pathology (median age 15.
Brain Behav
September 2025
Department of Thoracic Surgery II, Department of Lung Transplantation, Organ Transplantation Center, the First Hospital of Jilin University, Changchun, China.
Background: Ischemic stroke (IS) treatment remains a significant challenge. This study aimed to identify potential druggable genes for IS using a systematic druggable genome-wide Mendelian Randomization (MR) analysis.
Methods: Two-sample MR analysis was conducted to identify the causal association between potential druggable genes and IS.
APMIS
September 2025
Cancer Cytogenomic Laboratory, Center for Research and Drug Development (NPDM), Federal University of Ceara, Fortaleza, Ceara, Brazil.
Toll-like receptors (TLRs) are essential components of the innate immune system, functioning as pattern recognition receptors (PRRs) to detect pathogen-associated molecular patterns (PAMPs) and damage-associated molecular patterns (DAMPs). In hematological malignancies, particularly myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), and chronic myeloid leukemia (CML), TLRs influence inflammation, disease progression, and therapeutic response. This review highlights the prognostic relevance of TLR expression, the role of the MyD88 signaling pathway in clonal evolution, and the dual nature of TLR-mediated immune responses, either promoting antitumor activity or contributing to leukemogenesis.
View Article and Find Full Text PDFJ Genet Couns
October 2025
Department of Communication, University of Utah, Salt Lake City, Utah, USA.
With advances in next-generation sequencing technologies, individuals can seek genetic risk information for multiple conditions. However, feasibility and communication challenges could arise if offering multiple genetic tests simultaneously, such as cancer predisposition testing and carrier screening for pregnancy planning. Genetic screening introduces uncertainty from probabilistic results, ambiguous gene-disease associations, and complex variant interpretation, intertwining with psychosocial concerns impacting decision-making and emotional well-being.
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