Molecular profiling of vitreous fluid by massively parallel sequencing: a case series
| Autor: | Cynthia A. Schandl, Jessica S. Snider, Julie Woolworth Hirschhorn, Kathyrn G. Lindsey |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
medicine.medical_specialty Retinal Neoplasms Biopsy Fine-Needle DNA Mutational Analysis 030209 endocrinology & metabolism Malignancy Eye Enucleation Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine Intraocular Lymphoma medicine Biomarkers Tumor Humans Medical diagnosis Iris Neoplasms Solid tumor Child Melanoma Aged Massive parallel sequencing Vitreous Fluid business.industry High-Throughput Nucleotide Sequencing medicine.disease Mutational analysis Vitreous Body Treatment Outcome Molecular Diagnostic Techniques Cytopathology 030220 oncology & carcinogenesis Mutation Female Radiology Lymphoma Large B-Cell Diffuse business Vitreoretinal lymphoma Genes Neoplasm |
| Zdroj: | Journal of the American Society of Cytopathology. 9(4) |
| ISSN: | 2213-2945 |
| Popis: | Introduction In cases of suspected intraocular malignancy, vitreous may be the preferred pathologic sample; however, cellularity may be insufficient for definitive cytopathological diagnosis. Ancillary methodology to study vitreous fluid aspiration for mutational analysis may assist in treatment decisions. Materials and methods Three individual patient vitreous humor samples were received in the laboratory for mutation testing. The samples were collected during standard of care and analyzed for routine cytopathology. In each case, cytopathology was inconclusive and mutational analyses to support diagnostic suspicions were clinically requested. Based on the clinically and pathologically suspected diagnoses, an appropriate massively parallel sequencing assay previously validated for clinical use was performed using DNA extracted from vitreous samples that had previously undergone various processing. Nucleic acid yield was assessed by fluorometric or spectrophotometric methods, with yield ranging from 2.7 to 86.5 ng. Library preparations were performed using standard laboratory protocols. Results Two of the cases were suspicious for melanoma and a 50-gene solid tumor panel was performed. The third case was worrisome for vitreoretinal lymphoma and a 49-gene myeloid panel was performed. Conclusions In all cases, the molecular profiling assisted with the clinical assessment and/or management of each patient. |
| Databáze: | OpenAIRE |
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