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Review
. 2022 Nov-Dec;11(6):403-414.
doi: 10.1016/j.jasc.2022.08.002. Epub 2022 Aug 19.

Molecular testing of cytology specimens: overview of assay selection with focus on lung, salivary gland, and thyroid testing

Paul A VanderLaan  1 , Sinchita Roy-Chowdhuri  2 , Christopher C Griffith  3 , Vivian L Weiss  4 , Christine N Booth  5
Affiliations
Review

Molecular testing of cytology specimens: overview of assay selection with focus on lung, salivary gland, and thyroid testing

Paul A VanderLaan et al. J Am Soc Cytopathol. 2022 Nov-Dec.

Abstract

Ancillary and molecular testing of cytopathology specimens has emerged as a reliable and useful tool to provide diagnostic information and treatment-related biomarker status for the management of cancer patients. The cytology specimens obtained through minimally invasive means have proven suitable testing substrates for a variety of ancillary tests, including immunohistochemistry, fluorescence in situ hybridization, as well as polymerase chain reaction and next generation sequencing molecular techniques. By focusing specifically on the cytology specimen, this review provides an overview of basic testing considerations and assay selection in addition to updates on the ancillary testing of cytologic tumor specimens from the lung, salivary gland, and thyroid.

Keywords: Cytology; FISH; Lung; Molecular testing; Next generation sequencing; Salivary gland; Thyroid.

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Conflict of interest statement

Conflicts of interest

P.V.L. reports consulting fees from Gala Therapeutics, Galvanize Therapeutics, Ruby Robotics, and Intuitive Surgical, all unrelated to the submitted work. S.R.C., C.G., V.W., and C.B. have reported no relevant financial relationships and no conflicts of interest. No specific funding has been associated with this paper.

Figures

Figure 1
Figure 1
Lung cancer biomarker testing modalities. Chart summarizing the different assays that can be used for assessment of different biomarkers in non-small cell lung cancer specimens. Although any single biomarker target can be evaluated via many different modalities, some may have certain technical limitations or can only be used in narrowly defined circumstances, whereas other assays cannot be used at all.
Figure 2
Figure 2
Common chromosomal gene rearrangements for different salivary gland tumors.
Figure 3
Figure 3
Common genomic alterations for different thyroid cancers. PTC, papillary thyroid carcinoma; iFVPTC, infiltrative follicular variant of PTC; PDTC, poorly differentiated thyroid carcinoma; NIFTP, non-invasive follicular thyroid neoplasm with papillary-like nuclear features; EFVPTC, encapsulated follicular variant of PTC; FA, follicular adenoma; FC, follicular carcinoma; ATC, anaplastic thyroid carcinoma.
See this image and copyright information in PMC

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