scholarly journals The International System for Reporting Serous Fluid Cytopathology: How to Incorporate Molecular Data in Cytopathology Reports

2021 ◽  
Vol 2 (2) ◽  
pp. 66-76
Author(s):  
Daniel Pinto ◽  
Ashish Chandra ◽  
Fernando Schmitt
Keyword(s):  
International System ◽  
Therapeutic Targets ◽  
Molecular Data ◽  
New Drugs ◽  
Molecular Testing ◽  
Serous Fluid ◽  
Specimen Handling ◽  
Molecular Tests ◽  
Secondary Neoplasm ◽  
Primary Location

Serous effusion cytology is widely employed in the initial evaluation of the etiology of effusions with a high diagnostic sensitivity. To standardize practices, The International System for Reporting Serous Fluid Cytology (TIS) was developed following best international practices, the most up-to-date literature, and expert consensus. In the context of this system, ancillary techniques play an important role. Besides defining basic principles in laboratory specimen handling, adequacy criteria, and a standardized reporting terminology with five diagnostic categories, TIS provides an actionable framework for using immunohistochemical and molecular testing in effusion samples, namely, in atypical, suspicious of malignant samples. For diagnostic purposes, these tests may be employed to distinguish between a primary and secondary neoplasm, to confirm a diagnosis of malignant mesothelioma vs. reactive mesothelial hyperplasia, and to correctly classify and determine the primary location of a metastasis. Theranostic molecular tests may also be used for these samples to evaluate potential therapeutic targets. Pathologists play a central role in guiding this process by determining adequacy and selecting appropriate ancillary tests. The activity in this area of research should increase in the near future as new therapeutic targets are discovered and new drugs enter the clinical practice.

Europe Does It Better: Molecular Testing across a National Health Care System—The French Example

2013 ◽  
pp. 332-337 ◽  
Author(s):  
Frédérique Nowak ◽  
Fabien Calvo ◽  
Jean-Charles Soria
Keyword(s):  
Health Care ◽  
New Drugs ◽  
Molecular Testing ◽  
Tumor Biomarkers ◽  
National Network ◽  
National Health Care ◽  
Molecular Tests ◽  
Experimental Therapies ◽  
Set Up ◽  
French National Cancer Institute

Drug approvals for molecularly stratified tumor subgroups make molecular testing mandatory and require that molecular diagnostics be performed nationwide. To this end, the French National Cancer Institute (INCa) and the French Ministry of Health have set up a national network of 28 regional molecular genetics centers. Selective molecular tests are performed in these facilities. They are free of charge for all patients in their region, irrespective of the type of establishment in which they are receiving treatment. A specific program has also been implemented to anticipate the launch of new targeted therapies and to accelerate the time-to-access to new drugs and experimental therapies. The initiative has been operational for 5 years and has been successful in meeting its initial aims of uniform nationwide test provision and fast implementation of molecular tests for new tumor biomarkers.

What Every Neuropathologist Needs to Know: Practical Aspects and Pitfalls in Molecular Diagnosis of Brain Tumors

2021 ◽  
Author(s):  
J Stephen Nix ◽  
Cristiane M Ida
Keyword(s):  
Brain Tumors ◽  
Molecular Diagnosis ◽  
Genetic Alterations ◽  
Genetic Alteration ◽  
Molecular Testing ◽  
Test Results ◽  
Molecular Test ◽  
Molecular Tests ◽  
Clinically Significant ◽  
Selection Of

Abstract Molecular testing has become part of the routine diagnostic workup of brain tumors after the implementation of integrated histomolecular diagnoses in the 2016 WHO classification update. It is important for every neuropathologist to be aware of practical preanalytical, analytical, and postanalytical factors that impact the performance and interpretation of molecular tests. Prior to testing, optimizing tumor purity and tumor amount increases the ability of the molecular test to detect the genetic alteration of interest. Recognizing basic molecular testing platform analytical characteristics allows selection of the optimal platform for each clinicopathological scenario. Finally, postanalytical considerations to properly interpret molecular test results include understanding the clinical significance of the detected genetic alteration, recognizing that detected clinically significant genetic alterations are occasionally germline constitutional rather than somatic tumor-specific, and being cognizant that recommended and commonly used genetic nomenclature may differ. Potential pitfalls in brain tumor molecular diagnosis are also discussed.

scholarly journals EPEN-45. NORMALIZING AND FACILITATING GENOMIC TESTING AT DIAGNOSIS IN PEDIATRIC EPENDYMOMA

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii317-iii317
Author(s):  
Emily Owens Pickle ◽  
Ana Aguilar-Bonilla ◽  
Amy Smith
Keyword(s):  
Current Practice ◽  
Molecular Classification ◽  
Molecular Data ◽  
Molecular Profiling ◽  
Genomic Testing ◽  
Molecular Testing ◽  
Newly Diagnosed ◽  
Pediatric Ependymoma ◽  
Need Support ◽  
Almost All

Abstract The current consensus is that diagnosis and treatment of ependymoma should be based upon clinical and molecular classification. As we move into this paradigm, it is important all ependymoma cases undergo tumor collection, preservation, and molecular profiling at diagnosis. Our group of 6 sites gathered data on a cohort of 72 ependymoma cases. Sites were asked to report known molecular findings; 60/68 eligible cases (88%) did not include genetic findings. The low number of cases with molecular findings was surprising and since cases were diagnosed from as early as 2004, we asked collaborators to share their current practice in profiling (e.g., how frequently; in what setting were ependymomas sent for testing) to try and better understand current practice at sites. Since the publication of ependymoma molecular data, sites with a neuro-oncology program report sending almost all newly diagnosed ependymomas for molecular testing, whereas current practices at sites without dedicated neuro-oncology were less consistent. Profiling in the setting of relapse was more frequently reported at all centers. The implementation of molecular testing at diagnosis may need support at sites without dedicated neuro-oncology. Lead investigators for upcoming ependymoma clinical trials will need to think carefully about the logistics of profiling at centers where this is not standard practice at diagnosis.

Clinical Requests for Molecular Tests: The 3-Step Evidence Check

2012 ◽  
Vol 136 (12) ◽  
pp. 1585-1592 ◽  
Author(s):  
Alexis B Carter
Keyword(s):  
Laboratory Tests ◽  
Digital Age ◽  
Molecular Methods ◽  
Molecular Medicine ◽  
Molecular Testing ◽  
Reference Laboratory ◽  
New Wave ◽  
Molecular Test ◽  
Molecular Tests ◽  
The Individual

Laboratory tests performed by molecular methods are increasing in volume and complexity at an unprecedented rate. Molecular tests have a broad set of applications, and most recently have been advocated as the mechanism by which providers can further tailor treatments to the individual patient. As the momentum behind molecular testing continues to increase, pathology practices may find themselves unprepared for the new wave of molecular medicine. This special article has been developed in an effort to provide pathologists who have limited molecular training with a simple and quick algorithm for determining whether a requested molecular test is appropriate for a patient. Additional recommendations for a more intensive and proactive review and management of molecular requests also are included. The principles discussed can easily be applied to requests for any test, including those not using molecular methods, which would be sent to an outside reference laboratory. This special article was developed from a Webinar for the College of American Pathologists targeting education for pathologists about the transformation of pathology practice in the new molecular and digital age.

Molecular Testing in the Diagnosis and Management of Hepatitis C Virus Infection

2002 ◽  
Vol 126 (3) ◽  
pp. 285-290 ◽  
Author(s):  
Raymond P. Podzorski
Keyword(s):  
Hepatitis C Virus ◽  
Hepatitis C ◽  
Nucleic Acid ◽  
The United States ◽  
Nucleic Acid Amplification ◽  
Diagnosis And Treatment ◽  
Molecular Testing ◽  
Nucleic Acid Amplification Tests ◽  
Diagnosis And Management ◽  
Molecular Tests

Abstract Objectives.—To review hepatitis C virus (HCV), describe the types of molecular-based tests available for the diagnosis and management of HCV infection, and discuss the appropriate utilization of these tests. Data Sources.—Current information is presented from the published literature, as well as new information where available. Study Selection.—A major cause of posttransfusion and community-acquired non-A, non-B hepatitis worldwide is HCV. Approximately 4 million people in the United States are infected with HCV, resulting in 8000 to 10 000 deaths annually. Because HCV is not readily cultured, in vitro molecular-based tests have been developed for use in the diagnosis and treatment of HCV-infected patients. Molecular tests include qualitative and quantitative nucleic acid amplification tests, branched DNA tests, and HCV genotyping assays. Qualitative HCV nucleic acid amplification tests are used routinely in association with serologic tests to help make a diagnosis of infection with HCV. Quantitative HCV testing and genotyping methods have been found to be valuable tools in the treatment of infected patients. A patient's pretreatment HCV viral load and the rate of virus decline during therapy have been shown to correlate with the likelihood of long-term response to antiviral therapy. Information pertaining to the genotype of HCV infecting patients has been shown to be helpful in making recommendations regarding treatment. Certain genotypes of HCV are much more responsive to therapy, allowing a shorter course of treatment. Conclusions.—Molecular tests are valuable tools for use in the diagnosis and treatment of patients infected with HCV.

scholarly journals Molecular Testing Strategies for Pulmonary Adenocarcinoma: An Optimal Approach With Cost Analysis

2018 ◽  
Vol 143 (5) ◽  
pp. 628-633 ◽  
Author(s):  
Lester J. Layfield ◽  
Richard D. Hammer ◽  
Sandra K. White ◽  
Larissa V. Furtado ◽  
Robert L. Schmidt
Keyword(s):  
Essential Genes ◽  
Professional Organizations ◽  
Sequential Testing ◽  
Molecular Testing ◽  
Optimal Sequence ◽  
Expected Cost ◽  
Molecular Tests ◽  
Gene Testing ◽  
Few Data ◽  
Optimal Approach

Context.— Molecular analysis of lung adenocarcinoma for therapeutically important genes is standard of practice, with multiple professional organizations recommending testing of all adenocarcinomas for mutations in EGFR, ALK, and ROS1. Some organizations recommend analyzing these genes in association with a panel. Few data exist as to optimal testing method or optimal sequence of testing from a cost perspective. Objective.— To determine which order of gene testing was least costly and whether sequential, small panel, or next-generation sequencing (NGS) was cheapest. Design.— Recent recommendations propose a set of essential molecular tests (EGFR, ALK, and ROS1) and an optional set of molecular tests that may be useful for selection of clinical trials. We compared the costs of different testing sequencing strategies for both the 3 essential genes and for 5 optimal genes. Testing costs were determined by a survey of prices from large laboratories. The strategy most frequently rated as the lowest cost strategy was designated the optimal testing strategy. Results.— Sequential testing of the essential genes in the order EGFR-ROS1-ALK was optimal from a cost perspective. The expected cost of sequential testing was $2227 (95% CI, $1733–$2794). The cost of NGS was $2500. The expected cost per positive result was $11,362 using this strategy. Conclusions.— Molecular testing of lung adenocarcinomas for the set of 3 essential genes and 5 optional genes can be performed by a variety of methods and in a variety of sequences. From a cost perspective, sequential testing in the order EGFR, ROS1, then ALK is optimal. NGS would be competitive if the price was less than $2200. NGS is optimal if testing for the 3 essential genes will be followed by testing for the 5 optional genes. NGS testing is optimal if the clinician plans to test both essential and optional genes.

Sign in / Sign up

Export Citation Format

Share Document