Publications by authors named "M Komosa"
Background: Gliomas are a major cause of cancer-related death among children, adolescents, and young adults (age 0-40 years). Primary mismatch repair deficiency (MMRD) is a pan-cancer mechanism with unique biology and therapeutic opportunities. We aimed to determine the extent and impact of primary MMRD in gliomas among children, adolescents, and young adults.
View Article and Find Full Text PDFWe report a case of Mismatch Repair Deficiency (MMRD) caused by germline homozygous EPCAM deletion leading to tissue-specific loss of MSH2. Through the use of patient-derived cells and organoid technologies, we performed stepwise in vitro differentiation of colonic and brain organoids from reprogrammed EPCAM iPSC derived from patient fibroblasts. Differentiation of iPSC to epithelial-colonic organoids exhibited continuous increased EPCAM expression and hypermethylation of the MSH2 promoter.
View Article and Find Full Text PDFBackground: Breast cancer (BC) is the most frequently diagnosed cancer and a leading cause of death among women worldwide. Early BC is potentially curable, but the mortality rates still observed among BC patients demonstrate the urgent need of novel and more effective diagnostic and therapeutic options. Limitless self-renewal is a hallmark of cancer, governed by telomere maintenance.
View Article and Find Full Text PDFMineral bone composition (dry matter, bones ash, P, Ca, Zn, Mn, Mg, and Cu) and Pb levels of tibiotarsi of seven White-Tailed Sea Eagles were assessed. Lead intoxication in different bird species including waterfowl and raptors is being studied worldwide. The bones were analyzed for Pb by mass spectrometry with excitation in inductively coupled plasma (ICP-MS Elan DRC II) and for bone composition by Atomic Emission Spectrometer (Agilent 4100 Microwave Plasma).
View Article and Find Full Text PDFArticle Synopsis
- The study aims to improve the diagnosis of Mismatch Repair Deficiency (MMRD), which is important for managing tumors and early detection in individuals with constitutional mismatch repair deficiency (CMMRD).
- Researchers developed a new assay called the Low-pass Genomic Instability Characterization (LOGIC) to detect MMRD and compared its performance with existing diagnostic methods.
- LOGIC demonstrated 100% sensitivity and specificity in detecting MMRD in childhood cancers, outperforming other tests and showing potential for better cancer management and tailored surveillance for patients with CMMRD.