lynch syndrome (LS) is an autosomal dominant genetic disorder with incomplete penetration caused by a germline mutation in one of the genes of the deoxyribonucleic acid (DNA) mismatch repair system (MMR) namely: mutL homolog 1 (MLH1), mutS homolog 2 (MSH2), mutS homolog 6 (MHS6), post-meiotic segregation increased 1 homolog 2 (PMS2) or the EpCAM (Epithelial CellAdhesionMolecule) gene, which causes the inactivation of MSH2. Patients with this syndrome have a high relative risk of developing cancers at a young age, led by colorectal cancer (CRC) and endometrial cancer in females. The diagnosis is suspected when the patient's personal and family history meets the Amsterdam or Bethesda criteria. It is guided by immunohistochemistry (IHC) and/or molecular biology that show loss of expression of one or more proteins of the MMR system and microsatellite instability on tumor DNA. In case of positive IHC and/or molecular biology, the patient should be referred to an oncogenetic consultation for a definitive diagnosis. We present the case of a 49-year-old patient who presented an anamic syndrome in metrorrhagia. After a clinical, imaging, biological and anatomopathological examination, the diagnosis of LS was made.
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http://dx.doi.org/10.1259/bjrcr.20210230 | DOI Listing |
Pharmaceuticals (Basel)
December 2024
School of Health Sciences, Cappadocia University, Nevsehir 50400, Turkey.
: Cyclophosphamide (CP) is widely used for treating various cancers and autoimmune diseases, but it causes damage to reproductive organs due to oxidative stress (OS) and inflammation. Boric acid (BA) has antioxidant properties that may help reduce OS, which is critical for preserving uterine functionality, particularly for cancer patients considering pregnancy after cryopreservation. This study aimed to determine whether BA could diminish CP-induced toxicity in the uterus and fallopian tubes (FT) using CP-induced toxicity in a rat model.
View Article and Find Full Text PDFPharmaceuticals (Basel)
November 2024
Department of Histology and Embryology, School of Medicine, Istanbul Medipol University, Istanbul 34810, Turkey.
Background: Endometrial cancer remains a significant health concern, with type 1 endometrial cancer characterized by aberrant expression of estrogen-dependent and mTOR pathway proteins. In this study, we evaluated the effects of two novel hydrazone derivatives against the Ishikawa cell line, a model for endometrial cancer.
Methods: Two novel hydrazone derivatives, MVB1 and MVB2, were synthesized and characterized.
Medicina (Kaunas)
December 2024
Medicine School, "Carol Davila" University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Lynch syndrome, one of the most common genetic syndromes predisposing to cancer, is associated with a series of malignant conditions, among which the most frequent is colorectal cancer, but gynecologic cancers (especially endometrial) are also quite common. Despite the significant progress made in understanding this condition over time, there are still aspects in managing this condition that have not demonstrated clear benefits. This article aims to summarize the recommendations of international societies and present the latest developments in managing Lynch syndrome, focusing on gynecologic cancer screening and possible prevention strategies.
View Article and Find Full Text PDFMedicina (Kaunas)
December 2024
5th Department of Oncology, Metropolitan General Hospital, 155 62 Athens, Greece.
The most common histological subtypes of endometrial cancer consist of endometrioid and uterine serous carcinoma, with the latter being more aggressive and accompanied by poor prognosis. Human epidermal growth factor receptor 2 (HER2) is a transmembrane tyrosine kinase receptor associated with cell proliferation, differentiation, and survival. HER2 positivity can be diagnosed in many solid tumors.
View Article and Find Full Text PDFJ Clin Med
December 2024
Scientific and Innovative Program Med for Health, Medical University Pleven, 1, Saint Kliment Ohridski Street, 5800 Pleven, Bulgaria.
: The objective of this study is to prospectively collect dosimetric and clinical data on vaginal cuff electronic brachytherapy and propose a protocol for the procedure. Twenty-five patients who had proven endometrial or cervical carcinoma and had undergone radical hysterectomy have been treated with vaginal cuff electronic brachytherapy. Treatment session durations and doses to the targets and the organs at risk have been extracted from the treatment planning software.
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