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

VanderLaan, Paul A.; Roy‐Chowdhuri, Sinchita; Griffith, Christopher C.; Weiss, Vivian L.; Booth, Christine N.

doi:10.1016/j.jasc.2022.08.002

Cited by 8 publications

(9 citation statements)

References 127 publications

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“…Thus, the diagnostic accuracy varies from 75% to 97% in thyroid gland cytology, even when evaluated by a skilled cytopathologist 2 . In thyroid and salivary gland tumor cases, cytological specimens are excellent sources of molecular examinations that can provide important information pertaining to diagnosis and treatment 5 …”

Section: Introductionmentioning

confidence: 99%

“…2 In thyroid and salivary gland tumor cases, cytological specimens are excellent sources of molecular examinations that can provide important information pertaining to diagnosis and treatment. 5 We have recently verified that liquid-based cytology (LBC) specimens carry high-quality DNA available for genomic analysis, including gene methylation studies using NGS-based cancer gene panels. [6][7][8][9][10] These studies were performed using LBC specimens obtained from tumors of the thyroid glands, breast, pancreas, endometrium, and lymph nodes, and demonstrated that LBC specimens can be used as alternative sources for genomic analyses for the detection of gene mutations in pathology laboratories.…”

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confidence: 99%

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Cancer gene analysis of liquid‐based cytology specimens using next‐generation sequencing: A technical report of bimodal DNA‐ and RNA‐based panel application

Akahane,

Isochi‐Yamaguchi,

Hashiba‐Ohnuki

et al. 2023

Diagnostic Cytopathology

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Background As liquid‐based cytology (LBC) specimens harbor high‐quality DNA, genomic analysis using LBC specimens is beneficial for integrative diagnosis. This study aimed to clarify the feasibility of LBC specimens for a bimodal application of DNA‐ and RNA‐based next‐generation sequencing (NGS) panels. Methods LBC specimens were prepared from cultured human cancer HEC59 cells using commercially available fixatives (Cellprep, CytoRich Red, and SurePath solutions), and were subjected to NGS for a feasibility study. Clinical LBC specimens of thyroid and salivary gland tumors were prepared using CytoRich Red solution. After DNA and RNA extraction, NGS analyses were performed in a single run using combined DNA‐ and RNA‐based custom‐made cancer panels for the detection of gene mutations and fusions. Results High‐quality DNA and RNA were obtained, and the expected gene mutations and fusions were detected in HEC59 cells using all types of LBC fixatives. Most available clinical cases (18 out of 20) exhibited pathogenic gene mutations (15 cases) and fusion genes (3 cases) using the bimodal DNA‐ and RNA‐based panels. Overall, 18 cases (90%) showed oncogenic mutations or fusion genes of diagnostic values. Conclusion Simultaneous application of bimodal DNA‐ and RNA‐based gene panels was useful in NGS analysis using residual LBC specimens for integrative diagnosis. Residual LBC specimens for genomic analysis, including fusion gene analysis, are particularly useful for obtaining genomic information before surgical resection.

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Section: Introductionmentioning

confidence: 99%

mentioning

confidence: 99%

Cancer gene analysis of liquid‐based cytology specimens using next‐generation sequencing: A technical report of bimodal DNA‐ and RNA‐based panel application

Akahane,

Isochi‐Yamaguchi,

Hashiba‐Ohnuki

et al. 2023

Diagnostic Cytopathology

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“…7 Much of the literature regarding next generation sequencing has involved analysis of larger specimen types including core needle biopsies and resection specimens but cytology has been demonstrated to be a useful alternative when larger specimens are unavailable. [8][9][10][11][12][13][14] NGS testing of cytology specimens has been shown to be useful for analysis of malignancies from a variety of body sites including the lung, salivary gland, pancreas, and thyroid. 8,10,11,14 Cytologic specimens suitable for NGS testing include cell blocks, 11,12 smeared specimens, cytospins and liquid based preparations.…”

mentioning

confidence: 99%

“…[8][9][10][11][12][13][14] NGS testing of cytology specimens has been shown to be useful for analysis of malignancies from a variety of body sites including the lung, salivary gland, pancreas, and thyroid. 8,10,11,14 Cytologic specimens suitable for NGS testing include cell blocks, 11,12 smeared specimens, cytospins and liquid based preparations. 8,9 When properly performed, NGS testing of cytology specimens appears to be as accurate as testing of larger surgical specimens.…”

mentioning

confidence: 99%

“…8,10,11,14 Cytologic specimens suitable for NGS testing include cell blocks, 11,12 smeared specimens, cytospins and liquid based preparations. 8,9 When properly performed, NGS testing of cytology specimens appears to be as accurate as testing of larger surgical specimens. 8 NGS testing of cytology specimens allows expansion of molecular testing to cytology specimens when no surgical material is available.…”

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confidence: 99%

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Molecular testing of cytology specimens: Issues in specimen adequacy and clinical utility

Ghous,

Ijaz,

Esebua

et al. 2023

Diagnostic Cytopathology

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BackgroundNext generation sequencing (NGS) is standard of care for workup of many neoplasms including adenocarcinomas of the lung. Molecular testing of cytology samples is used for many types of neoplasms but the value of such testing for the selection of “first”‐ and “second‐line” treatment protocols is incompletely understood.MethodsFifty‐six sequentially performed cytology specimens (49 fine needle aspirates and 7 fluids) submitted for molecular analysis were reviewed by a medical oncologist to determine specimen adequacy and utility of results for therapy selection. Chart review was performed to determine availability of microsatellite instability status, tumor mutational burden, and presence of driver mutations treatable with targeted therapy in a “first”‐ or “second‐line” application.ResultsForty of 56 cases were successfully sequenced and 34% (19/56) had targetable mutations detected by NGS. Ten of these 19 cases (53%) received targeted therapy for their tumor type with five of 10 patients receiving “first‐line” therapy and five (50%) “second‐line” therapy. Twenty‐two mutations were detected where no targeted therapy for the patient's tumor type existed but targeted therapies were available for other tumor types. Of these specimens, only one patient received treatment using protocols associated with a second tumor type. Total mutation burden and microsatellite instability status results were obtained in 29 of 56 cases (52%).Conclusions71% (40/56) of cytologic specimens were adequate for sequencing with 34% (19/56) demonstrating a targetable mutation and 53% of these patients receiving therapy targeted to the driver mutation of their tumor type.

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Is molecular testing of salivary gland FNA specimens ready for prime time?

Pusztaszeri

2024

Cancer Cytopathology

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With improvements in the molecular characterization of salivary gland neoplasms, fine‐needle aspiration specimens, including smears and cell blocks, are amenable to molecular testing for defining alterations, providing a specific diagnosis in many cases, and guiding management in a preoperative setting. Molecular testing can be particularly beneficial and complementary when used within the framework of the Milan system, as the results can further refine the risk of malignancy.

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

Cited by 8 publications

References 127 publications

Cancer gene analysis of liquid‐based cytology specimens using next‐generation sequencing: A technical report of bimodal DNA‐ and RNA‐based panel application

Cancer gene analysis of liquid‐based cytology specimens using next‐generation sequencing: A technical report of bimodal DNA‐ and RNA‐based panel application

Molecular testing of cytology specimens: Issues in specimen adequacy and clinical utility

Is molecular testing of salivary gland FNA specimens ready for prime time?

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