Epidermal growth factor receptor (EGFR) mutations are common driver genes in nonsmall-cell lung cancer and have different sensitivities to EGFR-tyrosine kinase inhibitors (EGFR-TKIs). EGFR is divided into classic mutations and rare mutations. Classic mutations are well known, but the understanding of rare mutations is not sufficient. In this article, we summarize the clinical research and treatment progress of rare mutations for different EGFR-TKIs and provide a basis for clinical treatment decisions.
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http://dx.doi.org/10.1177/15330338231168466 | DOI Listing |
Hepatology
October 2024
Department of Pediatrics, Papé Family Pediatric Research Institute, Oregon Health & Science University, Portland, Oregon, USA.
The liver is a highly regenerative organ capable of significant proliferation and remodeling during homeostasis and injury responses. Experiments of nature in rare genetic diseases have illustrated that healthy hepatocytes may have a selective advantage, outcompete diseased cells, and result in extensive liver replacement. This observation has given rise to the concept of therapeutic liver repopulation by providing an engineered selective advantage to a subpopulation of beneficial hepatocytes.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
January 2025
Department of Rare Diseases, Institute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, Türkiye.
Objectives: Phenylketonuria (PKU) and tyrosinemia type 3 (HT3) are both rare autosomal recessive disorders of phenylalanine-tyrosine metabolism. PKU is caused by a deficiency in phenylalanine hydroxylase (PAH), leading to elevated phenylalanine (Phe) and reduced tyrosine (Tyr) levels. HT3, the rarest form of tyrosinemia, is due to a deficiency in 4-hydroxyphenylpyruvate dioxygenase (HPD).
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
IMAGINE Institute Affiliate, INSERM U1163, Paris, France.
Context: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and is chiefly caused by thyroid dysgenesis (CHTD). The inheritance mode of the disease remains complex.
Objectives: Gain insight into the inheritance mode of CHTD.
Curr Cardiol Rep
January 2025
Center for Diagnosis and Treatment of Cardiomyopathies, Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), European Reference Network for Rare, University of Trieste, Via P. Valdoni 7, 34100, Trieste, Italy.
Purpose Of Review: Hot phases are a challenging clinical presentation in arrhythmogenic cardiomyopathy (ACM), marked by acute chest pain and elevated cardiac troponins in the absence of obstructive coronary disease. These episodes manifest as myocarditis and primarily affect young patients, contributing to a heightened risk of life-threatening arrhythmias and potential disease progression. This review aims to synthesize recent research on the pathophysiology, diagnostic challenges, and therapeutic management of hot phases in ACM.
View Article and Find Full Text PDFDiscov Oncol
January 2025
Hematology Oncology Associates of CNY, Syracuse, USA.
Pancreatic cancer is a highly aggressive malignancy with the majority of patients presenting at a late stage with unresectable or metastatic disease. Even with first line treatment, median survival is approximately 11 months in patients with advanced PDAC. This report details the unique case of a patient that presented with peritoneal metastases from an adenocarcinoma of the body of the pancreas, had a remarkable response to palliative chemotherapy and is alive without evidence of disease 12 months following cessation of all active treatment.
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