Purpose: Management of suspected choroidal metastases requires diagnostic imaging and an invasive, sometimes intraocular, biopsy to determine the primary malignancy. This multistep process takes time, which may affect morbidity and mortality.
Methods: This was a retrospective review of one case.
Results: A 56-year-old woman presented with bilateral amelanotic choroidal masses suspicious for metastases of unknown origin. Plasma circulating tumor DNA revealed EGFR , PTEN , and SMAD4 , a profile consistent with non-small-cell lung cancer. Subsequent radiographic imaging and scapular biopsy revealed lung adenocarcinoma and genetic profile concordant with the liquid biopsy. The patient was started on EGFR inhibitor, osimertinib, with measurable systemic and ocular response.
Conclusion: Plasma circulating tumor DNA revealed the genetic profile of the primary malignancy underlying choroidal metastases of unknown origin, aiding in the prompt diagnosis and detecting the driver mutation that guided management with targeted therapy.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/ICB.0000000000001518 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Melatonin modulation of the chronic dexamethasone-induced adrenal insufficiency.
Endocrine
January 2025
H. N. B. Govt P.G. College, Department of Zoology, Naini, Uttar Pradesh, India.
Purpose: Chronic exposure to synthetic glucocorticoids/GCs, widely in use to treat many diseases, may compromise the hypothalamic-pituitary-adrenal/HPA axis leading to a condition of adrenal insufficiency/AI. This study demonstrates the efficacy of the melatonin/MEL in amelioration of chronic dexamethasone (DEX)-induced AI.
Methods: Mice (Parkes Strain/Male/8 weeks old/30-33 g) were maintained in four groups (10 mice/group) for 30 days: Group 1/Control received intraperitoneal (i.
Exploring the Structure-Activity Relationships of Albumin-Targeted Picoplatin-Based Platinum(IV) Prodrugs.
Inorg Chem
January 2025
Faculty of Chemistry, Institute of Inorganic Chemistry, University of Vienna, Waehringer Str. 42, 1090 Vienna, Austria.
Platinum(II) complexes prevail as first-line treatment for many cancers but are associated with serious side effects and resistance development. Picoplatin emerged as a promising alternative to circumvent GSH-induced tumor resistance by introducing a bulky 2-picoline ligand. Although clinical studies were encouraging, picoplatin did not receive approval.
View Article and Find Full Text PDFPlasma Circulating Metabolites Associated With Steatotic Liver Disease and Liver Enzymes: A Multiplatform Population-Based Study.
Gastro Hep Adv
September 2024
Department of Epidemiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Background And Aims: Steatotic liver disease (SLD) is the most common chronic liver disease strongly associated with metabolic dysfunction, but its pathogenesis remains incompletely understood. Exploring plasma circulating metabolites may help in elucidating underlying mechanisms and identifying new biomarkers for SLD.
Methods: We examined cross-sectionally the association between plasma metabolites and SLD as well as liver enzymes using data from 4 population-based cohort studies (Rotterdam study, Avon Longitudinal Study of Parents and Children, The Insulin Resistance Atherosclerosis Family Study, and Study of Latinos).
Body mass index is similar to alternative anthropometric indices in evaluating plasma lipids as proxy for cardiovascular disease in women with previous hypertensive disorders of pregnancy: A cross-sectional study.
Womens Health (Lond)
January 2025
Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
Background: Women with previous hypertensive disorders of pregnancy (HDP) have increased risk of cardiovascular disease (CVD). Overweight is a modifiable risk factor for both conditions. Anthropometric indices such as waist circumference, hip circumference, waist-to-hip ratio, estimated total body fat, a body shape index, waist-to-hip-to-height ratio, and index of central obesity improve estimation of cardiovascular death risk in the general population as compared to body mass index (BMI).
View Article and Find Full Text PDFIntestinal neutrophil extracellular traps promote gut barrier damage exacerbating endotoxaemia, systemic inflammation and progression of diabetic retinopathy in type 2 diabetes.
Diabetologia
January 2025
Department of Ophthalmology and Visual Sciences, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
Aims/hypothesis: Within the small intestine, neutrophils play an integral role in preventing bacterial infection. Upon interaction with bacteria or bacteria-derived antigens, neutrophils initiate a multi-staged response of which the terminal stage is NETosis, formation of protease-decorated nuclear DNA into extracellular traps. NETosis has a great propensity to elicit ocular damage and has been associated with diabetic retinopathy and diabetic macular oedema (DME) progression.
View Article and Find Full Text PDFWant 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!