Background: This study aimed to examine the clinical and pathological characteristics of surgically resected lung adenocarcinoma patients harboring uncommon epidermal growth factor receptor (EGFR) mutations and provide a rational basis to provide postoperative adjuvant treatment for these patients.
Methods: Data from 13 patients with lung adenocarcinomas harboring uncommon EGFR mutations were retrospectively collected, and the clinicopathological parameters and disease-free survival (DFS) data analyzed.
Results: EGFR uncommon mutations commonly occurred in acinar predominant adenocarcinomas, females, and never smokers. Despite treatment, six patients relapsed.
Conclusion: Patients with EGFR 20 insertion mutations relapsed quickly. Postoperative adjuvant treatment with chemotherapeutic drugs or new tyrosine kinase inhibitors for lung adenocarcinoma patients harboring EGFR 20 insertion mutations requires further evaluation.
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Anticancer Drugs
February 2025
Department of Medical Oncology, Ankara Bilkent City Hospital, Medical Oncology Clinic.
Epidermal growth factor receptor (EGFR) mutations like the common L858R and exon 19 deletions are well studied, but rarer mutations like exon 19 insertions have received less attention. This case report describes a patient with this uncommon EGFR exon 19 insertion mutation in metastatic lung adenocarcinoma. A 51-year-old male nonsmoker with metastatic lung adenocarcinoma and a rare EGFR exon 19 insertion mutation experienced disease progression on initial carboplatin-pemetrexed chemotherapy.
View Article and Find Full Text PDFCancer Med
January 2025
Department of Respiratory and Critical Care Medicine, Chongqing University Jiangjin Hospital, Chongqing, China.
Background: Uncommon EGFR mutations are a kind of heterogeneous group of mutations with various responses to EGFR-TKIs and are often excluded from most prospective clinical trials. In this real-world retrospective study, we retrospectively compared the efficacy and safety of chemotherapy or various generations of EGFR-TKIs as first-line therapy in NSCLC Chinese patients harboring non-ex 20 ins uncommon EGFR mutations.
Methods: We enrolled 139 NSCLC patients with non-ex 20 ins uncommon EGFR mutations in this study retrospectively.
Trifunctional protein deficiency (TFP) is a disorder of fatty acid beta-oxidation associated with metabolic, cardiac, and liver dysfunction in severe forms. We present two siblings diagnosed by newborn screening and confirmed by biochemical testing at birth. Their clinical course was complicated by recurrent rhabdomyolysis, retinopathy, and hypoparathyroidism.
View Article and Find Full Text PDFLancet Oncol
January 2025
Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address:
Background: Gliomas are a major cause of cancer-related death among children, adolescents, and young adults (age 0-40 years). Primary mismatch repair deficiency (MMRD) is a pan-cancer mechanism with unique biology and therapeutic opportunities. We aimed to determine the extent and impact of primary MMRD in gliomas among children, adolescents, and young adults.
View Article and Find Full Text PDFTransl Cancer Res
November 2024
Medical Oncology Centre, Saalfeld, Germany.
Non-small cell lung cancer (NSCLC) represents over 80% of lung cancer cases and has a high mortality worldwide, however, targeting common epidermal growth-factor receptor (EGFR) alterations (i.e., del19, L858R) has provided a paradigm shift in the treatment of NSCLC.
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