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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10126640PMC
http://dx.doi.org/10.1177/15330338231168466DOI Listing

Publication Analysis

Top Keywords

rare mutations
12
epidermal growth
8
growth factor
8
factor receptor
8
nonsmall-cell lung
8
lung cancer
8
classic mutations
8
clinical treatment
8
mutations
7
advances treatment
4

Similar Publications

In vivo selection of hepatocytes.

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 PDF

Coexistence of phenylketonuria and tyrosinemia type 3: challenges in the dietary management.

J 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 PDF

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.

View Article and Find Full Text PDF

Hot Phases Cardiomyopathy: Pathophysiology, Diagnostic Challenges, and Emerging Therapies.

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 PDF

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.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!