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Targeted 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 PDFTargeted Next-Generation Sequencing of Cell-Free DNA to Detect -Immunoglobulin Translocation and Epstein-Barr Virus DNA in Plasma of Burkitt Lymphoma Patients in East Africa.
JCO Glob Oncol
January 2025
University of Oxford, Oxford, United Kingdom.
Purpose: Epstein-Barr virus (EBV)-positive Burkitt lymphoma (BL) affects children in sub-Saharan Africa, but diagnosis via tissue biopsy is challenging. We explored a liquid biopsy approach using targeted next-generation sequencing to detect the -immunoglobulin (-Ig) translocation and EBV DNA, assessing its potential for minimally invasive BL diagnosis.
Materials And Methods: The panel included targets for the characteristic -Ig translocation, mutations in intron 1 of , mutations in exon 2 of , and three EBV genes: EBV-encoded RNA (EBER)1, EBER2, and EBV nuclear antigen 2.
Germline and Somatic Genomic Testing for Metastatic Prostate Cancer: ASCO Guideline.
J Clin Oncol
January 2025
Jefferson Einstein Medical Center, Sidney Kimmel Cancer Center of Thomas Jefferson University, Philadelphia, PA.
Purpose: To evaluate evidence on germline and somatic genomic testing for patients with metastatic prostate cancer and provide recommendations.
Methods: A systematic review by a multidisciplinary panel with patient representation was conducted. The PubMed database was searched from January 2018 to May 2024.
Expanding the Range of Epithelial Marker and SMA Staining of Superficial CD34+ Fibroblastic Tumors: A Case Report and Review of the Literature.
Am J Dermatopathol
December 2024
Departments of Dermatology and Pathology, University of California, Irvine, CA.
Superficial CD34+ fibroblastic tumor (SCD34FT) is a relatively recently described borderline mesenchymal neoplasm. Owing to a relative lack of specificity in clinical presentation, radiopathologic findings, and immunohistochemical staining, the diagnoses of SCD34FT can be challenging. In this study, we present a case of a 55-year-old woman with an indolent painless nodule on the right shin.
View Article and Find Full Text PDFDigenic Inheritance Mode in Congenital Hypothyroidism due to Thyroid Dysgenesis: HYPOTYGEN translational cohort study.
J Clin Endocrinol Metab
January 2025
IMAGINE Institute Affiliate, INSERM U1163, Paris, France.
Context: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and is chiefly caused by thyroid dysgenesis (CHTD). The inheritance mode of the disease remains complex.
Objectives: Gain insight into the inheritance mode of CHTD.
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