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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.
Objective.—: To investigate a simple banking protocol for currently discarded tissues trimmed off prior to the initial hematoxylin-eosin section, as an alternative source of DNA for molecular studies.
Design.—: Mock biopsies of lung adenocarcinomas, benign testes, and B-cell lymphomas were constructed from biobank blocks; these simulated biopsies were assessed via epidermal growth factor receptor (EGFR) p.L858R droplet digital polymerase chain reaction (PCR), Biomed B-cell clonality testing by PCR, or a custom next-generation sequencing panel for lymphomas. For each cancer mock biopsy, DNA amounts and molecular test results from the "trimmings" samples were compared to data from corresponding molecular samples acquired via a "standard" clinical protocol.
Results.—: The data show that although trimmings samples usually contained less DNA than standard samples, both sample classes generally had sufficient DNA for testing and produced essentially identical molecular results. A single sample showed low-level carryover contamination on droplet digital PCR testing.
Conclusions.—: Tissue trimmings banked by using the studied protocol demonstrated value as a potential alternative sample for molecular testing.
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http://dx.doi.org/10.5858/arpa.2024-0222-OA | DOI Listing |
Genet Med
September 2025
Institute for Clinical and Translational Science, University of California, Irvine, CA, USA.
Purpose: Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging technologies are now being deployed to address the remaining diagnostic gap.
Methods: We tested whether short-read genome sequencing could increase the diagnostic yield in individuals enrolled into the UCI-GREGoR research study, who had suspected Mendelian conditions and prior inconclusive testing.
Alzheimers Dement
September 2025
Department of Neurology, Beijing TianTan Hospital, Capital Medical University, Beijing, China.
Cognitive impairment and dementia, including Alzheimer's disease (AD), pose a global health crisis, necessitating non-invasive biomarkers for early detection. This review highlights the retina, an accessible extension of the central nervous system (CNS), as a window to cerebral pathology through structural, functional, and molecular alterations. By synthesizing interdisciplinary evidence, we identify retinal biomarkers as promising tools for early diagnosis and risk stratification.
View Article and Find Full Text PDFEur J Case Rep Intern Med
September 2025
Department of Internal Medicine, Hospital Universitario San Agustín, Asturias, Spain.
Background: Although splenomegaly is a common finding in Epstein-Barr virus (EBV) infection, splenic infarction is rarely reported and may be under-recognised, especially in adults. Neurological complications such as aseptic meningitis are also uncommon but documented. The simultaneous occurrence of both complications in the context of primary EBV infection is exceptional.
View Article and Find Full Text PDFEur J Case Rep Intern Med
August 2025
Department of Internal Medicine, Wayne State University School of Medicine, Trinity Health Oakland Hospital, Pontiac, USA.
Background: Invasive central nervous system (CNS) aspergillosis is rare among human immunodeficiency virus (HIV)-positive patients due to preserved neutrophil function, despite significant CD4+ T-cell depletion. Diagnosis typically requires histopathologic confirmation, but polymerase chain reaction (PCR) testing has introduced new challenges due to its high sensitivity but limited specificity.
Case Presentation: We describe a newly diagnosed 43-year-old HIV-positive male with concurrent Hodgkin lymphoma who presented with progressive neurological decline and a ring-enhancing brain lesion.
Front Oncol
August 2025
Department Hematopathology, Shenzhen Hospital of Southern Medical University, Shenzhen, China.
Background: Mixed-phenotype acute leukemia (MPAL) is a rare acute leukemia for which data are currently not available to guide therapy. It has a poor outcome, particularly in elderly patients.
Case Presentation: We report the successful use of venetoclax/azacitidine as treatment for a treatment-naive elderly patient with early T-cell precursor (ETP)/myeloid MPAL.