The utilization of cytologic and small biopsy samples for ancillary molecular testing

• Published in: Modern pathology 2019, Vol.32 (Suppl 1), p.77-85
• Main Author: Roh, Michael H.
• Format: Article
• Language: English
• Subjects: 692/53/2422; 692/699/67; Biopsy; Cytodiagnosis - methods; Cytogenetics; Humans; Laboratory Medicine; Long Course Article; Medicine; Medicine & Public Health; Molecular Diagnostic Techniques; Pathology; Pathology, Clinical; Pathology, Molecular
• ISSN: 0893-3952; 1530-0285
• DOI: 10.1038/s41379-018-0138-z

There has recently been an increased emphasis on the utilization of cytologic samples and small biopsies for not only diagnostic purposes but also for ancillary testing. In some instances, the ancillary tests contribute to the diagnosis and in other scenarios, they provide prognostic and theranostic information for the management of patients with advanced stage cancer. These ancillary tests include immunohistochemical biomarker analysis, molecular mutation analysis, and cytogenetic tests. Despite the finite nature of the cellular material procured in cytologic and small tissue biopsies, pathologists are tasked with ordering an increasing number of tests using these limited samples. This requires the pathologists to utilize and triage these samples in an optimal fashion so that as much information can be gleaned from a given specimen. This review will focus on the pre-analytic requirements for ancillary molecular and cytogenetic tests in the context of a discussion of the various preparation methods for cytologic and small biopsy specimens. The goal will be to provide the reader with the necessary concepts that can be utilized to develop optimal specimen selection and triage strategies to maximize the chances of effectively utilizing these samples for comprehensive diagnostic and relevant ancillary testing purposes.