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Description
Molecular diagnostics are increasingly used to help guide targeted therapy in solid organ tumors and hematologic malignancies. A large proportion of molecular testing is performed on limited-volume samples obtained via minimally invasive techniques, such as fine needle aspiration. Increasingly, cytopathologists play an essential role in this process, both in the triage of specimens during rapid on-site evaluation and in the evaluation of archival samples to determine suitability for ancillary testing. Therefore, it is imperative that practicing cytopathologists stay abreast of up-to-date diagnostic, prognostic, and predictive ancillary tests that can be used on limited cytologic material. This is a challenge since the landscape of known genomic alterations is constantly evolving and the subsequent set of testing options is ever expanding.
Table of Contents
Introduction: Overview of Current Molecular Diagnostic Testing on Cytology Samples.- The Cytology Specimen and Preparations: Advantages and Limitations.- Sample Acquisition and Test Requisition.- Pre-Analytic Workflow and Specimen Evaluation.- DNA-Based Sequencing Assays.- RNA-Based Assays.- FISH Testing of Cytology Specimens: Pre-Analytic, Analytic and Post-Analytic Considerations.- Molecular Cytopathology Correlations: Interpretation of Molecular Diagnostic Results.- Human Papillomavirus (HPV) Testing of Head and Neck Cancers.- Human Papillomavirus (HPV) Testing on Cervical Cytology Specimens.- Molecular Diagnostics in Lung Cytology.- Molecular Diagnostics in Thyroid Cytology.- Molecular Diagnostics in Breast Cytology.- Molecular Diagnostics in Salivary Gland Cytology.- Molecular Diagnostics in Pancreatic and Biliary Cytology.- Fluorescence In Situ Hybridization (FISH) Testing in Urinary Tract Cytology.- Molecular Diagnostics in Hematological Malignancies.- Molecular Diagnostics in Bone and Soft Tissue Tumors.- Molecular Diagnostics in Pediatric Cytopathology.- Molecular Cytopathology: Final Thoughts and Future Directions.
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