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ACQUIRED MUTATIONS IN PATIENTS WITH RELAPSED/REFRACTORY CLL WHO PROGRESSED IN THE ALPINE STUDY.
Blood Adv
January 2025
Fred Hutchinson Cancer Research Center, Seattle, Washington, United States.
Some CLL patients who develop progressive disease (PD) during treatment with covalent Bruton tyrosine kinase inhibitors (cBTKi) acquire pathway resistance mutations in BTK or PLCG2. Here, we report gene mutation data from paired baseline and PD peripheral blood samples from 52 patients (zanubrutinib, n=24; ibrutinib, n=28) who, at an early median follow-up time of 25.7 months, progressed on zanubrutinib or ibrutinib treatment in the ALPINE trial (NCT03734016).
View Article and Find Full Text PDFInsights in biomarkers complexity and routine clinical practice for the diagnosis of thyroid nodules and cancer.
PeerJ
January 2025
Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), i3S-Institute for Research & Innovation in Health, Porto, Portugal.
Background: The differential diagnosis between benign and malignant thyroid nodules continues to be a major challenge in clinical practice. The rising incidence of thyroid neoplasm and the low incidence of aggressive thyroid carcinoma, urges the exploration of strategies to improve the diagnostic accuracy in a pre-surgical phase, particularly for indeterminate nodules, and to prevent unnecessary surgeries. Only in 2022, the 5th WHO Classification of Endocrine and Neuroendocrine Tumors, and in 2023, the 3rd Bethesda System for Reporting Thyroid Cytopathology and the European Thyroid Association included biomarkers in their guidelines.
View Article and Find Full Text PDFThree Years of Progression-free after Biopsy of BRAF V600E-negative Ganglioglioma in the Adult Brainstem: A Case Report and the Literature Review.
NMC Case Rep J
December 2024
Department of Neurological Surgery, Chiba University Graduate School of Medicine, Chiba, Chiba, Japan.
Ganglioglioma, a glioneuronal neoplasm, typically presents in adolescents' temporal lobes. While pediatric brainstem gangliogliomas (BSGGs) are well documented, adult BSGGs are limited, resulting in a lack of comprehensive understanding of their pathophysiology and prognosis. A 41-year-old woman who presented with dizziness and numbness in her right upper extremity and right face underwent radiological examination.
View Article and Find Full Text PDFThe mutational spectrum of NRAS gene discovers a novel frameshift mutation (E49R) in Saudi colorectal cancer patients.
Cancer Cell Int
January 2025
Institute of Genomic Medicine Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
Colorectal cancer (CRC) is a major health problem the world face currently and one of the leading causes of death worldwide. CRC is genetically heterogeneous and multiple genetic aberrations may appear on course of the disease throughout patient's lifetime. Genetic biomarkers such as BRAF, KRAS, and NRAS may provide early precision treatment options that are crucial for patient survival and well-being.
View Article and Find Full Text PDFPTPN23-dependent activation of PI3KC2α is a therapeutic vulnerability of BRAF-mutant cancers.
J Exp Med
March 2025
Institute of Cancer Research, Shenzhen Bay Laboratory , Shenzhen, China.
BRAF mutations drive initiation and progression of various tumors. While BRAF inhibitors are effective in BRAF-mutant melanoma patients, intrinsic or acquired resistance to these therapies is common. Here, we identify non-receptor-type protein tyrosine phosphatase 23 (PTPN23) as an alternative effective target in BRAF-mutant cancer cells.
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