Introduction: Mutation in oncogene is the main driver in pancreatic ductal adenocarcinoma (PDAC) and is present in nearly 90% of patients with PDAC. () mutation is rare in PDAC and is mostly present in the absence of mutation. Co-occurrence of and mutations is extremely rare, and the value of EGFR inhibition in these cases is unknown.
Case Presentation: Here, we present a case of metastatic PDAC with co-occurrence of G12V and L730R. Despite primary resistance to folinic acid, fluorouracil, irinotecan, oxaliplatin, and gemcitabine/nab-paclitaxel, this patient had a biochemical response (decrease in carbohydrate antigen 19-9) and disease control of 7 months on gemcitabine/erlotinib (an EGFR inhibitor). This outcome is remarkable in the late-line PDAC treatment setting and is unusual after the progression of the tumor on gemcitabine/nab-paclitaxel chemotherapy.
Conclusion: This case suggests that gemcitabine/erlotinib could be an effective treatment in patients with PDAC and co-occurrence of and mutations.
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http://dx.doi.org/10.1159/000536552 | DOI Listing |
Sci Rep
January 2025
Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, China.
Hepatocellular carcinoma (HCC) is the most prevalent form of liver cancer, and ranks among the most lethal malignancies globally, primarily due to its high rates of recurrence and metastasis. Despite the urgency, no reliable biomarkers currently exist for predicting tumor recurrence in HCC. Telomerase reverse transcriptase (TERT) promoter mutations (TERTpm) and cellular tumor antigen p53 mutations (TP53m) have been frequently documented in HCC, but their combined clinical significance remains undefined.
View Article and Find Full Text PDFBMC Cancer
January 2025
Department of Pulmonary and Critical Care Medicine, Shanghai Pulmonary Hospital, School of Medicine, Tongji University, Shanghai, China.
Background: Primary pulmonary Mucosa-associated lymphoid tissue (MALT) lymphoma is a sporadic disease with a favorable prognosis. Particularly, pulmonary MALT lymphoma coexisting with lung cancer is not only rare but also prone to misdiagnosis. The clinical characteristics and prognostic factors of this co-occurrence, however, remain poorly understood.
View Article and Find Full Text PDFThe pathophysiology of dystonia in Wilson disease (WD) is complex and poorly understood. Copper accumulation in the basal ganglia, disrupts dopaminergic pathways, contributing to dystonia's development via neurotransmitter imbalance. Despite advances in diagnosis and management, WD with dystonia remains a challenging condition to treat.
View Article and Find Full Text PDFTransl Lung Cancer Res
December 2024
Lung Cancer and Chest Tumours Department, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.
Immune checkpoint inhibitors (ICIs) have become an established treatment option for patients with advanced non-small cell lung cancer (NSCLC). However, the efficacy of single-agent immunotherapy as well as in combination with chemotherapy seems to be dependent on the presence of molecular abnormalities in some genes-serine/threonine kinase 11 (), Kelch-like ECH-associated protein 1 () and Kirsten rat sarcoma viral oncogene homolog () among them. The gene is a critical regulator of the cellular response to oxidative stress and electrophilic stress, thus playing a pivotal role in maintaining cellular homeostasis.
View Article and Find Full Text PDFCancer Cell Int
January 2025
The Comprehensive Cancer Centre, Department of Oncology, Nanjing Drum Tower Hospital Clinical College of Nanjing University of Chinese Medicine, 321 Zhongshan Road, Nanjing, 210008, China.
Background: Immunotherapy and radiotherapy play crucial roles in the transformation therapy of locally advanced pancreatic cancer; however, the exploration of effective predictive biomarkers has been unsatisfactory. With the rapid development of radiomics, next-generation sequencing, and machine learning, there is hope to identify biomarkers that can predict the efficacy of transformative treatment for locally advanced pancreatic cancer through simple and non-invasive clinical methods. Our study focuses on using computed tomography (CT), positron emission tomography/computed tomography (PET/CT), gene mutations, and baseline carbohydrate antigen 199 (CA199) to identify biomarkers for predicting the efficacy of transformative treatment.
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