A Combination of BRAF and EZH1/SPOP/ZNF148 Three-Gene Mutational Classifier Improves Benign Call Rate in Indeterminate Thyroid Nodules

Bernet V. J., Chindris A. M. Update on the Evaluation of Thyroid Nodules. J Nucl Med. 2021;62(Suppl 2):13S-9S.

Article  CAS  PubMed  Google Scholar 

Burman K. D., Wartofsky L. CLINICAL PRACTICE. Thyroid Nodules. N Engl J Med. 2015;373(24):2347-56.

Article  CAS  PubMed  Google Scholar 

Haugen B. R., Alexander E. K., Bible K. C., Doherty G. M., Mandel S. J., Nikiforov Y. E., Pacini F., Randolph G. W., Sawka A. M., Schlumberger M., Schuff K. G., Sherman S. I., Sosa J. A., Steward D. L., Tuttle R. M., Wartofsky L. 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):1-133.

Article  PubMed  PubMed Central  Google Scholar 

Cibas E. S., Ali S. Z. The Bethesda System for Reporting Thyroid Cytopathology. Thyroid. 2009;19(11):1159-65.

Article  PubMed  Google Scholar 

Cibas E. S., Ali S. Z. The 2017 Bethesda System for Reporting Thyroid Cytopathology. Thyroid. 2017;27(11):1341-6.

Article  PubMed  Google Scholar 

Muzza M., Colombo C., Pogliaghi G., Karapanou O., Fugazzola L. Molecular markers for the classification of cytologically indeterminate thyroid nodules. J Endocrinol Invest. 2020;43(6):703-16.

Article  CAS  PubMed  Google Scholar 

Bose S., Sacks W., Walts A. E. Update on Molecular Testing for Cytologically Indeterminate Thyroid Nodules. Adv Anat Pathol. 2019;26(2):114-23.

Article  PubMed  Google Scholar 

Nikiforov Y. E., Nikiforova M. N. Molecular genetics and diagnosis of thyroid cancer. Nat Rev Endocrinol. 2011;7(10):569-80.

Article  CAS  PubMed  Google Scholar 

Ye L., Zhou X., Huang F., Wang W., Qi Y., Xu H., Yang S., Shen L., Fei X., Xie J., Cao M., Zhou Y., Zhu W., Wang S., Ning G., Wang W. The genetic landscape of benign thyroid nodules revealed by whole exome and transcriptome sequencing. Nat Commun. 2017;8:15533.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Baloch Z. W., Asa S. L., Barletta J. A., Ghossein R. A., Juhlin C. C., Jung C. K., LiVolsi V. A., Papotti M. G., Sobrinho-Simoes M., Tallini G., Mete O. Overview of the 2022 WHO Classification of Thyroid Neoplasms. Endocr Pathol. 2022;33(1):27-63.

Article  PubMed  Google Scholar 

Trevethan R. Sensitivity, Specificity, and Predictive Values: Foundations, Pliabilities, and Pitfalls in Research and Practice. Front Public Health. 2017;5:307.

Article  PubMed  PubMed Central  Google Scholar 

Cancer Genome Atlas Research Network. Integrated genomic characterization of papillary thyroid carcinoma. Cell. 2014;159(3):676-90.

Article  Google Scholar 

Karczewski K. J., Francioli L. C., Tiao G., Cummings B. B., Alfoldi J., Wang Q., Collins R. L., Laricchia K. M., Ganna A., Birnbaum D. P., Gauthier L. D., Brand H., Solomonson M., Watts N. A., Rhodes D., Singer-Berk M., England E. M., Seaby E. G., Kosmicki J. A., Walters R. K., Tashman K., Farjoun Y., Banks E., Poterba T., Wang A., Seed C., Whiffin N., Chong J. X., Samocha K. E., Pierce-Hoffman E., Zappala Z., O’Donnell-Luria A. H., Minikel E. V., Weisburd B., Lek M., Ware J. S., Vittal C., Armean I. M., Bergelson L., Cibulskis K., Connolly K. M., Covarrubias M., Donnelly S., Ferriera S., Gabriel S., Gentry J., Gupta N., Jeandet T., Kaplan D., Llanwarne C., Munshi R., Novod S., Petrillo N., Roazen D., Ruano-Rubio V., Saltzman A., Schleicher M., Soto J., Tibbetts K., Tolonen C., Wade G., Talkowski M. E., Genome Aggregation Database Consortium, Neale B. M., Daly M. J., MacArthur D. G. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434–43.

Gelfman S., Wang Q., McSweeney K. M., Ren Z., La Carpia F., Halvorsen M., Schoch K., Ratzon F., Heinzen E. L., Boland M. J., Petrovski S., Goldstein D. B. Annotating pathogenic non-coding variants in genic regions. Nat Commun. 2017;8(1):236.

Article  PubMed  PubMed Central  Google Scholar 

Bendl J., Musil M., Stourac J., Zendulka J., Damborsky J., Brezovsky J. PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions. PLoS Comput Biol. 2016;12(5):e1004962.

Article  PubMed  PubMed Central  Google Scholar 

Kircher M., Witten D. M., Jain P., O’Roak B. J., Cooper G. M., Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46(3):310-5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shihab H. A., Rogers M. F., Gough J., Mort M., Cooper D. N., Day I. N., Gaunt T. R., Campbell C. An integrative approach to predicting the functional effects of non-coding and coding sequence variation. Bioinformatics. 2015;31(10):1536-43.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fu Y., Liu Z., Lou S., Bedford J., Mu X. J., Yip K. Y., Khurana E., Gerstein M. FunSeq2: a framework for prioritizing noncoding regulatory variants in cancer. Genome Biol. 2014;15(10):480.

Article  PubMed  PubMed Central  Google Scholar 

Ritchie G. R., Dunham I., Zeggini E., Flicek P. Functional annotation of noncoding sequence variants. Nat Methods. 2014;11(3):294-6.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Song Y., Xu G., Ma T., Zhu Y., Yu H., Yu W., Wei W., Wang T., Zhang B. Utility of a multigene testing for preoperative evaluation of indeterminate thyroid nodules: A prospective blinded single center study in China. Cancer Med. 2020;9(22):8397-405.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vuong H. G., Ngo H. T. T., Bychkov A., Jung C. K., Vu T. H., Lu K. B., Kakudo K., Kondo T. Differences in surgical resection rate and risk of malignancy in thyroid cytopathology practice between Western and Asian countries: A systematic review and meta-analysis. Cancer Cytopathol. 2020;128(4):238-49.

Article  PubMed  Google Scholar 

Zhu Y., Wu H., Huang B., Shen X., Cai G., Gu X. BRAF(V600E) mutation combined with American College of Radiology thyroid imaging report and data system significantly changes surgical resection rate and risk of malignancy in thyroid cytopathology practice. Gland Surg. 2020;9(5):1674-84.

Article  PubMed  PubMed Central  Google Scholar 

Kaya C., Dorsaint P., Mercurio S., Campbell A. M., Eng K. W., Nikiforova M. N., Elemento O., Nikiforov Y. E., Sboner A. Limitations of Detecting Genetic Variants from the RNA Sequencing Data in Tissue and Fine-Needle Aspiration Samples. Thyroid. 2021;31(4):589-95.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sipos J. A., Ringel M. D. Molecular testing in thyroid cancer diagnosis and management. Best Pract Res Clin Endocrinol Metab. 2023;37(1):101680.

Article  CAS  PubMed  Google Scholar 

Jung C. K., Kim Y., Jeon S., Jo K., Lee S., Bae J. S. Clinical utility of EZH1 mutations in the diagnosis of follicular-patterned thyroid tumors. Hum Pathol. 2018;81:9-17.

Article  CAS  PubMed  Google Scholar 

Comments (0)

No login
gif