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Background: Genetic alteration profile of epidermal growth factor receptor () mutant resected non-small cell lung cancer (NSCLC) and its relationship with clinical outcomes remains to be illustrated and genetic biomarkers that can predict recurrence need to be figured out.
Methods: Clinicopathological and follow-up information were collected for 99 -mutant resected NSCLC. Tumor sections were collected for genetic alteration detection. Targeted next-generation sequencing (NGS) was performed to detect somatic mutations within each sample using a 285-gene panel on the Ion Torrent platform.
Results: Concurrent driver gene mutations were detected in 86 participants. Adjuvant therapy was a positive factor in disease-free survival (DFS) period, and patients receiving tyrosine kinase inhibitors (TKIs) gained the longest DFS. A total of 34 concurrent mutant driver genes were found. The median number of mutated driver genes for each sample was 2 (range, 0-12). and were the most frequent concurrent mutant driver genes with rates of 53.54% and 25.25% respectively. The number of concurrent mutant genes did not have a significant effect on recurrence. Multivariable analysis found that mutations of (P=0.021), (P=0.002), (P<0.001), (P=0.015), (P=0.042), (P=0.006), and wildtype (P=0.032), (P=0.012), (P=0.035) were independent risk factors for the recurrence of resected mutant NSCLC.
Conclusions: and was the most common concurrent mutant driver gene. Mutations of , and wildtype were independent risk factors for the recurrence of resected mutant NSCLC.
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http://dx.doi.org/10.21037/tlcr.2019.10.19 | DOI Listing |
Eur J Case Rep Intern Med
August 2025
National Rehab Hospital, Dublin, Ireland.
Unlabelled: This report provides a detailed analysis of a singular case involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a male patient who suffered a stroke. Our investigation delves into the clinical manifestations, genetic foundations, diagnostic complexities, and prognosis associated with CADASIL. As a notable contributor to stroke occurrence in young patients, CADASIL's impact on morbidity and mortality is influenced by stroke-related complications and cognitive decline.
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September 2025
Department of Thoracic Surgery, Shenzhen People's Hospital (The First Affiliated Hospital, Southern University of Science and Technology; The Second Clinical Medical College, Jinan University), Shenzhen, Guangdong, China.
Background: Lung cancer remains the leading cause of cancer-related mortality globally, primarily due to late-stage diagnosis, molecular heterogeneity, and therapy resistance. Key biomarkers such as EGFR, ALK, KRAS, and PD-1 have revolutionized precision oncology; however, comprehensive structural and clinical validation of these targets is crucial to enhance therapeutic efficacy.
Methods: Protein sequences for EGFR, ALK, KRAS, and PD-1 were retrieved from UniProt and modeled using SWISS-MODEL to generate high-confidence 3D structures.
Front Immunol
September 2025
Division of Rheumatology, Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
Background: Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory disease caused by a gain-of-function mutation in the gene, which regulates inflammasome-mediated interleukin-1β (IL-1β) production. This leads to recurrent episodes of fever, rash, and arthritis, typically beginning in childhood.
Objective: To demonstrate the role of a missense mutation, c.
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.
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