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Next-generation sequencing technologies are fueling a wave of new diagnostic tests. Progress on a key set of nine research challenge areas will help generate the knowledge required to advance effectively these diagnostics to the clinic.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233899 | PMC |
http://dx.doi.org/10.1126/scitranslmed.aaf7314 | DOI Listing |
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.
Front Oncol
August 2025
Department of Hematology and Oncology, Wake Forest University School of Medicine, Winston-Salem, NC, United States.
Introduction: Metastatic colorectal cancer (mCRC) exhibits significant heterogeneity in molecular profiles, influencing treatment response and patient outcomes. Mutations in v-raf murine sarcoma viral oncogene homolog B1 () and rat sarcoma () family genes are commonly observed in mCRC. Though originally thought to be mutually exclusive, recent data have shown that patients may present with concomitant and mutations, posing unique challenges and implications for clinical management.
View Article and Find Full Text PDFFront Med (Lausanne)
August 2025
Genomics Laboratory, Institute of Translational Medicine Pirogov Russian National Research Medical University, Moscow, Russia.
Neuronal ceroid lipofuscinosis (NCL) is one of the most common causes of childhood dementia. NCL type 5 is characterized by epileptic seizures, cognitive decline, and progressive vision loss. Whole exome sequencing was performed, and the identified variant was confirmed by Sanger sequencing.
View Article and Find Full Text PDFFront Med (Lausanne)
August 2025
Department of Pathology and Laboratory Diagnosis, College of Veterinary Medicine, Qassim University, Buraydah, Saudi Arabia.
Tuberculosis (TB) remains one of the leading causes of infectious disease mortality worldwide, increasingly complicated by the emergence of drug-resistant strains and limitations in existing diagnostic and therapeutic strategies. Despite decades of global efforts, the disease continues to impose a significant burden, particularly in low- and middle-income countries (LMICs) where health system weaknesses hinder progress. This comprehensive review explores recent advancements in TB diagnostics, antimicrobial resistance (AMR surveillance), treatment strategies, and vaccine development.
View Article and Find Full Text PDFJTO Clin Res Rep
October 2025
Department of Surgery, Institute of Clinical Sciences, Sahlgrenska Center for Cancer Research, University of Gothenburg, Gothenburg, Sweden.
Introduction: Immune checkpoint blockade (ICB) is a standard first-line treatment for stage IV NSCLC without actionable oncogenic alterations. mutations, prevalent in 30% to 40% lung adenocarcinomas (LUAD) in Western populations, currently lack targeted first-line therapies. This study aimed to assess the predictive value of mutations for clinical outcomes after distinct ICB regimens, validating our previous findings in a larger cohort with extended follow-up.
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