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Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders.
Genome Med
January 2025
Laboratory of Cytogenetics and Genome Research, Centre for Human Genetics, KU Leuven, Leuven, 3000, Belgium.
Background: A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants as well as confirm clinical diagnoses. Currently, the detection of these episignature requires the use of indirect methylation profiling methodologies.
View Article and Find Full Text PDFAssessment of the predictive power the radiation-induced lymphocyte apoptosis method in prostate cancer patients.
Sci Rep
January 2025
Department of Radiobiology and Diagnostic Onco-Cytogenetics, Centre of Radiotherapy, National Institute of Oncology, 1122, Ráth György utca 7-9, Budapest, Hungary.
Due to the better survival of patients with tumorous diseases, it is increasingly important to predict the side effects of radiotherapy, for which the Radiation-Induced Lymphocyte Apoptosis (RILA) method is proving to be effective in multicentric studies. Prostate cancer is the leading cause of cancer-related deaths among men worldwide, which is usually treated with radiotherapy. We recruited 49 patients with localized prostate cancer and performed RILA measurements before radiotherapy.
View Article and Find Full Text PDFEfficacy of geneguided preemptive therapy for prevention of relapse in acute myeloid leukemia after transplantation and its optimal intervention threshold.
Zhong Nan Da Xue Xue Bao Yi Xue Ban
July 2024
Department of Hematology, Xiangya Hospital, Central South University, Changsha 410008.
Objectives: Monitoring minimal residual disease (MRD) and timely intervention are effective strategies for preventing relapse after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in adult acute myeloid leukemia (AML). The gene, a pan-leukemia marker, can be used as an indicator for MRD monitoring in AML patients. Currently, there is no unified standard for the intervention timing or treatment threshold based on gene detection after transplantation.
View Article and Find Full Text PDFTargeted Next-Generation Sequencing in Succinate Dehydrogenase-Deficient GI Stromal Tumor Identifies Actionable Alterations in the PI3K/mTOR Pathway.
JCO Precis Oncol
January 2025
Sarcoma Translational Research Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.
Purpose: Less than 5% of GI stromal tumors (GISTs) are driven by the loss of the succinate dehydrogenase (SDH) complex, resulting in a pervasive DNA hypermethylation pattern that leads to unique clinical features. Advanced SDH-deficient GISTs are usually treated with the same therapies targeting KIT and PDGFRA receptors as those used in metastatic GIST. However, these treatments display less activity in the absence of alternative therapeutic options.
View Article and Find Full Text PDFTissue Prior to the Initial Hematoxylin-Eosin Section Demonstrates Value as an Alternative Source of DNA for Molecular Testing.
Arch Pathol Lab Med
December 2024
Hematopathology and Transfusion Medicine, University Health Network, Toronto, Ontario, Canada (Xia).
Context.—: Small biopsies are used for histologic, immunophenotypic, cytogenetic, molecular genetic, and other ancillary studies. Occasionally, this diagnostic tissue is exhausted before molecular testing can be performed.
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