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The coexistence of three or more transcripts in one patient with chronic myeloid leukemia (CML) is rarely reported. Thus, the disease progression and drug response are still unknown. This case report aimed to explore the drug response of CML with variant transcripts and to enrich the clinical treatment of rare types of CML. A 66-year-old Chinese female patient was diagnosed with chronic myeloid leukemia-chronic phase (CML-CP) expressing four transcripts, including variant e16a2(V-e16a2), variant e13a2(V-e13a2), classical e13a2, and e14a2 transcripts. The patient was treated with flumatinib, a tyrosine kinase inhibitor (TKI).The variant transcripts reported exhibited a favorable response to TKI, and attention should be directed toward monitoring variant transcripts.
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http://dx.doi.org/10.3389/fonc.2024.1518387 | DOI Listing |
Elife
September 2025
Institute of Biophysical Chemistry and Center for Biomolecular Magnetic Resonance, Goethe University, Frankfurt am Main, Germany.
The p53 transcription factor family consists of the three members p53, p63, and p73. Both p63 and p73 exist in different isoforms that are well characterized. Isoforms have also been identified for p53 and it has been proposed that they are responsible for increased cancer metastasis.
View Article and Find Full Text PDFCancer Med
September 2025
Division of Clinical & Translational Cancer Research, Medical Sciences Campus, University of Puerto Rico Comprehensive Cancer Center, San Juan, Puerto Rico.
Background: Gastric cancer (GC) is the fourth leading cause of cancer-related death globally. Tumor profiling has revealed actionable gene alterations that guide treatment strategies and enhance survival. Among Hispanics living in Puerto Rico (PRH), GC ranks among the top 10 causes of cancer-related death.
View Article and Find Full Text PDFSignal Transduct Target Ther
September 2025
State Key Laboratory of Molecular Oncology & Department of Medical Oncology & Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Small-cell lung cancer (SCLC), an aggressive neuroendocrine tumor strongly associated with exposure to tobacco carcinogens, is characterized by early dissemination and dismal prognosis with a five-year overall survival of less than 7%. High-frequency gain-of-function mutations in oncogenes are rarely reported, and intratumor heterogeneity (ITH) remains to be determined in SCLC. Here, via multiomics analyses of 314 SCLCs, we found that the ASCL1/MKI67 and ASCL1/CRIP2 clusters accounted for 74.
View Article and Find Full Text PDFJ Neurosci
September 2025
Department of Neuroscience, University of Connecticut Health Center, Farmington, CT 06030, United States.
Presenilin mutations are the most common cause of familial Alzheimer's disease (FAD), but the mechanisms by which they disrupt neuronal function remain unresolved, particularly in relation to γ-secretase activity. Using , we show that the presenilin ortholog SEL-12 supports synaptic transmission and axonal integrity through a pathway involving the ryanodine receptor RYR-1. Loss-of-function mutations in either or reduce neurotransmitter release and cause neuronal structural defects, with no additional impairment in double mutants, suggesting a shared pathway.
View Article and Find Full Text PDFAm J Hum Genet
September 2025
Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.
Microtubule-actin cross-linking factor 1 (MACF1) is a large protein of the spectraplakin family, which is essential for brain development. MACF1 interacts with microtubules through the growth arrest-specific 2 (Gas2)-related (GAR) domain. Heterozygous MACF1 missense variants affecting the zinc-binding residues in this domain result in a distinctive cortical and brain stem malformation.
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