Purpose: To determine the diagnostic potential of next-generation sequencing (NGS) in vitreous samples, analyze genotype-phenotype characteristics, and compare NGS of matched vitreous and brain samples in patients with associated central nervous system lymphoma (CNSL).
Methods: A total of 32 patients suspected of vitreoretinal lymphoma (VRL) who underwent diagnostic vitrectomy and NGS were included in this retrospective observational case-series. Fresh vitreous specimens from diagnostic vitrectomy of VRL-suspected patients underwent NGS using a custom panel targeting 747 candidate genes for lymphoma. They also underwent malignancy cytology, interleukin (IL)-10/IL-6, immunoglobulin heavy chain (IGH)/immunoglobulin kappa light chain (IGK) monoclonality testing. MYD88 L265P mutation was examined from anterior chamber tap samples. The diagnosis of VRL was made based on typical clinical characteristics for VRL, as well as malignant cytology, IGH/IGK clonality, or IL-10/IL-6 > 1. Sensitivity and specificity of NGS were compared with conventional diagnostic tests. Brain tissues suspected of lymphoma were collected by stereotactic biopsy and underwent NGS. Genetic variations detected in NGS of vitreous and brain tissue specimens were compared.
Results: The sensitivity values for cytology, IL-10/IL-6 > 1, clonality assays for IGH and IGK, MYD88 L265P detection in anterior chamber tap samples, and vitreous NGS were 0.23, 0.83, 0.68, 0.79, 0.67, and 0.85, with specificity values of 1.00, 0.83, 0.50, 0.25, 0.83, and 0.83, respectively. The sensitivity (0.85) of vitreous NGS was the highest compared to other conventional diagnostic tests for VRL. The most common mutations were MYD88 (91%), CDKN2A (36%), PIM1 (32%), IGLL5 (27%), and ETV6 (23%). Although several gene alterations demonstrated heterogeneity between the brain and eyes, some common mutational profiles were observed in matched vitreous and brain samples.
Conclusions: Overall, NGS of the vitreous demonstrated high sensitivity among conventional diagnostic tests. VRL and CNSL appeared to have both shared and distinct genetic variations, which may suggest site-specific variations from a common origin.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664732 | PMC |
| http://dx.doi.org/10.1167/iovs.64.14.27 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Multifocal Retinocytoma Associated With Intronic Acceptor Splice Site Variants in the RB1 Gene.
Cureus
October 2024
Clinical Ophthalmology, Weill Medical College of Cornell University, New York City, USA.
Retinocytomas are benign tumors that arise from mutations in the gene. Previous research describes the appearance of retinocytomas as that of treated retinoblastoma (Rb) lesions, with characteristics such as chorioretinal atrophy, calcification, and a lack of necrosis or mitotic activity on histopathology. We present the unusual case of an asymptomatic seven-year-old girl with two independent translucent masses in the peripheral retina of the right eye (OD) and extensive intraretinal tumor and vitreous seeds.
View Article and Find Full Text PDFDiagnostic potential of vitreoretinal lymphoma by detection of gene mutations with NGS in 25 Chinese patients.
Clin Chim Acta
July 2024
Department of Laboratory Medcine, Huashan Hospital, Fudan University, Shanghai 200040, China. Electronic address:
Background: Vitreoretinal lymphoma (VRL) is a rare malignant lymphoproliferative tumor. Our study aimed to investigate the mutational profile of VRL distinguishing from uveitis using next-generation sequencing (NGS) analysis on small amounts of vitreous fluid.
Methods: Vitreous samples from twenty-six eyes of twenty VRL patients and six eyes of five uveitis patients were enrolled.
Case report: Pilomatrix carcinoma with PDL1 expression and aberrant.
Front Immunol
June 2024
The Affiliated Cancer Hospital of Xiangya School of Medicine, Central South University/Hunan Cancer Hospital, Changsha, China.
Article Synopsis
- A 55-year-old male presented with a mass in the left inguinal area and swelling in the left leg, initially due to unrelieved pain; MRI results indicated significant damage and abnormal tissue signals related to a suspected tumor.
- A biopsy confirmed the mass to be a malignant pilomatrix carcinoma, with evidence of bone metastasis and a significant genetic mutation found through next-generation sequencing.
- The patient underwent chemotherapy with gemcitabine and nedaplatin, but the cancer progressed, suggesting that alternative treatments like PDL1 antibodies and CDK4/6 inhibitors could be more effective.
Antibiotic susceptibility in Endophthalmitis Management Study and intravitreal antibiotic practice trend in India-EMS Report #5.
Graefes Arch Clin Exp Ophthalmol
July 2024
Anant Bajaj Retina Institute, Srimati Kanuri Santhamma Centre for Vitreoretinal Disease, L V Prasad Eye Institute, Hyderabad, India.
Article Synopsis
- The study aims to evaluate antibiotic susceptibility in endophthalmitis cases from the Endophthalmitis Management Study (EMS) and compare it with the current practices of Indian vitreoretinal specialists.
- Methods included microbiological analyses like microscopy, culture-susceptibility testing, PCR, and NGS, with significant results defined as p < 0.05.
- Results indicated that gram-positive cocci (GPC) were mostly susceptible to vancomycin and gram-negative bacilli (GNB) to colistin; VRSI members primarily preferred using a combination of vancomycin and ceftazidime for treatment.
Evaluating the utility of inflammation score in post-cataract surgery endophthalmitis. Results from a prospective study in India. EMS Report #4.
Indian J Ophthalmol
January 2024
Anant Bajaj Retina Institute, Srimati Kanuri Santhama Centre for Vitreoretinal Diseases, L V Prasad Eye Institute, Hyderabad, Telangana, India.
Article Synopsis
- The study aimed to determine if an inflammation score (IS) from eye structures could indicate the severity of endophthalmitis in patients after cataract surgery.
- In a controlled trial, 175 adults diagnosed with endophthalmitis received different treatments based on their inflammation scores and underwent comprehensive microbiological testing, revealing key correlations between high IS and worse patient outcomes.
- Findings showed that higher IS was linked to more severe endophthalmitis, including faster symptom onset and a higher likelihood of Gram-negative infections, while two-thirds of patients improved vision post-treatment.
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!