دورية أكاديمية
Thyroid cytology smear slides: An untapped resource for ThyroSeq testing.
العنوان: | Thyroid cytology smear slides: An untapped resource for ThyroSeq testing. |
---|---|
المؤلفون: | Nikiforova MN; Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania., Lepe M; Department of Pathology and Laboratory Medicine, University of Pennsylvania Medical Center, Perelman School of Medicine, Philadelphia, Pennsylvania., Tolino LA; Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania., Miller ME; Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania., Ohori NP; Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania., Wald AI; Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania., Landau MS; Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania., Kaya C; Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania., Malapelle U; Department of Public Health, University of Naples, Federico II, Naples, Italy., Bellevicine C; Department of Public Health, University of Naples, Federico II, Naples, Italy., Troncone G; Department of Public Health, University of Naples, Federico II, Naples, Italy., Nikiforov YE; Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania., Baloch Z; Department of Pathology and Laboratory Medicine, University of Pennsylvania Medical Center, Perelman School of Medicine, Philadelphia, Pennsylvania. |
المصدر: | Cancer cytopathology [Cancer Cytopathol] 2021 Jan; Vol. 129 (1), pp. 33-42. Date of Electronic Publication: 2020 Jul 22. |
نوع المنشور: | Journal Article |
اللغة: | English |
بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101499453 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1934-6638 (Electronic) Linking ISSN: 1934662X NLM ISO Abbreviation: Cancer Cytopathol Subsets: MEDLINE |
أسماء مطبوعة: | Original Publication: Hoboken, NJ : Wiley-Blackwell |
مواضيع طبية MeSH: | Cytological Techniques/*methods , Molecular Diagnostic Techniques/*methods , Thyroid Neoplasms/*pathology , Thyroid Nodule/*pathology, Biopsy, Fine-Needle ; DNA Copy Number Variations ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Nucleic Acids/analysis ; Nucleic Acids/genetics ; Thyroid Neoplasms/diagnosis ; Thyroid Neoplasms/genetics ; Thyroid Nodule/diagnosis ; Thyroid Nodule/genetics |
مستخلص: | Background: Molecular testing of thyroid nodules with indeterminate fine-needle aspiration (FNA) cytology is commonly used to guide patient management and is typically performed on freshly collected FNA samples. In this study, the authors evaluated the performance of the ThyroSeq test in cytology smear slides. Methods: Air-dried Diff-Quik (DQ)-stained and alcohol-fixed Papanicolaou (Pap)-stained smears were used to determine required cellularity and sensitivity of mutation detection and to compare ThyroSeq v3 Genomic Classifier (GC) results obtained in cytology smears and fresh FNA samples from the same nodules. Results: ThyroSeq testing of 31 cytology smears revealed that 25 smears (81%) were adequate for ThyroSeq analysis, including 14 Pap-stained smears (100%) and 11 DQ-stained smears (65%), whereas 6 DQ-stained smears (35%) failed RNA sequencing. The overall accuracy for detecting molecular alterations was 98%, with 100% concordance for mutations and gene expression alterations, 96% concordance for fusions, and 94% concordance for copy number alterations. Cytology smears were adequate for ThyroSeq analysis when at least 200 to 300 cells were present in 1 to 3 slides. ThyroSeq detected all studied mutations down to 5% allele frequency and BRAF mutations down to 1% allele frequency. Testing of smears yielded a positive ThyroSeq GC result in all nodules originally classified as positive. Conclusions: Thyroid FNA cytology smear slides with adequate cellularity can be successfully used for ThyroSeq GC testing in approximately 80% of cases, with an even higher success rate in Pap-stained smears. Compared with FNA samples collected into preservative solution, 94% to 100% of different genetic alterations could be accurately detected in smears, validating cytology smears as an alternative for ThyroSeq testing in patients with indeterminate thyroid cytology. (© 2020 American Cancer Society.) |
References: | Durante C, Grani G, Lamartina L, Filetti S, Mandel SJ, Cooper DS. The diagnosis and management of thyroid nodules: a review. JAMA. 2018;319:914-924. Haugen BR, Alexander EK, Bible KC, et al. 2015 American Thyroid Association management guidelines for adult patients with thyroid nodules and differentiated thyroid cancer: the American Thyroid Association Guidelines Task Force on Thyroid Nodules and Differentiated Thyroid Cancer. Thyroid. 2016;26:1-133. Cibas ES, Ali SZ. The 2017 Bethesda System for Reporting Thyroid Cytopathology. Thyroid. 2017;27:1341-1346. Patel KN, Angell TE, Babiarz J, et al. Performance of a genomic sequencing classifier for the preoperative diagnosis of cytologically indeterminate thyroid nodules. JAMA Surg. 2018;153:817-824. Nikiforova MN, Mercurio S, Wald AI, et al. Analytical performance of the ThyroSeq v3 genomic classifier for cancer diagnosis in thyroid nodules. Cancer. 2018;124:1682-1690. Steward DL, Carty SE, Sippel RS, et al. Performance of a multigene genomic classifier in thyroid nodules with indeterminate cytology: a prospective blinded multicenter study. JAMA Oncol. 2019;5:204-212. Sistrunk JW, Shifrin A, Frager M, et al. Clinical performance of multiplatform mutation panel and microRNA risk classifier in indeterminate thyroid nodules. J Am Soc Cytopathol. Published online March 10, 2020. doi:10.1016/j.jasc.2020.02.002. Malapelle U, Mayo-de-Las-Casas C, Molina-Vila MA, et al. Consistency and reproducibility of next-generation sequencing and other multigene mutational assays: a worldwide ring trial study on quantitative cytological molecular reference specimens. Cancer Cytopathol. 2017;125:615-626. Gupta N, Brenkert R, Lee JW, et al. Cytology smears for DNA extraction: practical approach for selecting the best slide. Cytopathology. 2019;30:68-73. Han LM, Khanafshar E, Afshar AR, Calkins SM. The diagnostic utility of next-generation sequencing on FNA biopsies of melanocytic uveal lesions. Cancer Cytopathol. Published online March 20, 2020. doi:10.1002/cncy.22264. Lozano MD, Echeveste JI, Abengozar M, et al. Cytology smears in the era of molecular biomarkers in non-small cell lung cancer: doing more with less. Arch Pathol Lab Med. 2018;142:291-298. Roy-Chowdhuri S, Chen H, Singh RR, et al. Concurrent fine needle aspirations and core needle biopsies: a comparative study of substrates for next-generation sequencing in solid organ malignancies. Mod Pathol. 2017;30:499-508. Sciacchitano S, Paliotta DS, Nardi F, Sacchi A, Andreoli M, Pontecorvi A. PCR amplification and analysis of ras oncogenes from thyroid cytologic smears. Diagn Mol Pathol. 1994;3:114-121. Kumar G, Timmaraju VA, Song-Yang JW, et al. Utility of microdissected cytology smears for molecular analysis of thyroid malignancy. Diagn Cytopathol. 2019;47:289-296. Ganly I, Makarov V, Deraje S, et al. Integrated genomic analysis of hurthle cell cancer reveals oncogenic drivers, recurrent mitochondrial mutations, and unique chromosomal landscapes. Cancer Cell. 2018;34:256-270.e5. Gopal RK, Kubler K, Calvo SE, et al. Widespread chromosomal losses and mitochondrial DNA alterations as genetic drivers in hurthle cell carcinoma. Cancer Cell. 2018;34:242-255.e5. Jennings L, Van Deerlin VM, Gulley ML; College of American Pathologists Molecular Pathology Resource Committee. Recommended principles and practices for validating clinical molecular pathology tests. Arch Pathol Lab Med. 2009;133:743-755. Kashima K, Daa T, Yokoyama S. Detection of HTLV-1 gene on cytologic smear slides. Methods Mol Biol. 2005;304:183-189. Cozma K, Henwood A. An assessment of decoverslipping methods on histology slides. J Histotechnol. 2019;42:64-67. da Cunha Santos G, Schroder M, Zhu JB, et al. Minimizing delays in DNA retrieval: The “freezer method” for glass coverslip removal. Letter to the editor regarding comparative study of epidermal growth factor receptor mutation analysis on cytology smears and surgical pathology specimens from primary and metastatic lung carcinomas. Cancer Cytopathol. 2013;121:533. Negi A, Puri A, Gupta R, Chauhan I, Nangia R, Sachdeva A. Biosafe alternative to xylene: a comparative study. J Oral Maxillofac Pathol. 2013;17:363-366. Nikiforov YE, Carty SE, Chiosea SI, et al. Impact of the multi-gene ThyroSeq next-generation sequencing assay on cancer diagnosis in thyroid nodules with atypia of undetermined significance/follicular lesion of undetermined significance cytology. Thyroid. 2015;25:1217-1223. Ohori NP, Landau MS, Manroa P, Schoedel KE, Seethala RR. Molecular-derived estimation of risk of malignancy for indeterminate thyroid cytology diagnoses. J Am Soc Cytopathol. Published online April 8, 2020. doi:10.1016/j.jasc.2020.03.004. Nikiforov YE, Ohori NP, Hodak SP, et al. Impact of mutational testing on the diagnosis and management of patients with cytologically indeterminate thyroid nodules: a prospective analysis of 1056 FNA samples. J Clin Endocrinol Metab. 2011;96:3390-3397. Jennings LJ, Arcila ME, Corless C, et al. Guidelines for Validation of next-generation sequencing-based oncology panels: a joint consensus recommendation of the Association for Molecular Pathology and College of American Pathologists. J Mol Diagn. 2017;19:341-365. Gougeon DJ. Regression: models, methods and applications. Curr Rev Acad Libr. 2014;51:1442. Chuaqui R, Cole K, Cuello M, Silva M, Quintana ME, Emmert-Buck MR. Analysis of mRNA quality in freshly prepared and archival Papanicolaou samples. Acta Cytol. 1999;43:831-836. Lin WM, Ashfaq R, Michalopulos EA, Maitra A, Gazdar AF, Muller CY. Molecular Papanicolaou tests in the twenty-first century: molecular analyses with fluid-based Papanicolaou technology. Am J Obstet Gynecol. 2000;183:39-45. Dejmek A, Zendehrokh N, Tomaszewska M, Edsjo A. Preparation of DNA from cytological material: effects of fixation, staining, and mounting medium on DNA yield and quality. Cancer Cytopathol. 2013;121:344-353. da Cunha Santos G, Saieg MA. Preanalytic specimen triage: smears, cell blocks, cytospin preparations, transport media, and cytobanking. Cancer Cytopathol. 2017;125:455-464. Gleeson FC, Kipp BR, Levy MJ, et al. Lung cancer adrenal gland metastasis: optimal fine-needle aspirate and touch preparation smear cellularity characteristics for successful theranostic next-generation sequencing. Cancer Cytopathol. 2014;122:822-832. Tian SK, Killian JK, Rekhtman N, et al. Optimizing workflows and processing of cytologic samples for comprehensive analysis by next-generation sequencing: Memorial Sloan Kettering Cancer Center experience. Arch Pathol Lab Med. 2016;140:1200-1205. Heymann JJ, Yoxtheimer LM, Park HJ, et al. Preanalytic variables in quality and quantity of nucleic acids extracted from FNA specimens of thyroid gland nodules collected in CytoLyt: cellularity and storage time. Cancer Cytopathol. Published online April 8. 2020. doi:10.1002/cncy.22270. Killian JK, Walker RL, Suuriniemi M, et al. Archival fine-needle aspiration cytopathology (FNAC) samples: untapped resource for clinical molecular profiling. J Mol Diagn. 2010;12:739-745. |
فهرسة مساهمة: | Keywords: ThyroSeq; fine-needle aspiration (FNA); indeterminate fine-needle aspiration; next-generation sequencing; thyroid cytology smear; thyroid nodule |
المشرفين على المادة: | 0 (Nucleic Acids) |
تواريخ الأحداث: | Date Created: 20200723 Date Completed: 20210726 Latest Revision: 20210726 |
رمز التحديث: | 20240628 |
DOI: | 10.1002/cncy.22331 |
PMID: | 32697051 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1934-6638 |
---|---|
DOI: | 10.1002/cncy.22331 |