Impact of different methodologies on the detection of point mutations in routine air-dried fine needle aspiration (FNA) smears

Hormone and Metabolic Research

Volumn 45, Issue 7, 2013, Pages 513-517

  Rehfeld, C ^a   Munz S ^a   Krogdahl, A ^b   Jensen, E M P ^b   Siebolts, U ^c   Ferraz, C ^a   Bosenberg E ^a   Hegedus L ^b   Paschke, R ^a   Eszlinger, M ^a  

^a UNIVERSITY OF LEIPZIG   (Germany)

^b ODENSE UNIVERSITY HOSPITAL   (Denmark)

^c UNIVERSITY HOSPITAL LEIPZIG   (Germany)

Author keywords

diagnostics; fine needle aspiration; mutations; thyroid cancer; thyroid cytology

Indexed keywords

B RAF KINASE; DNA; FORMALDEHYDE; HRAS PROTEIN; K RAS PROTEIN; NRAS PROTEIN; ONCOPROTEIN; UNCLASSIFIED DRUG;

ARTICLE; ASPIRATION CYTOLOGY; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DNA EXTRACTION; FEASIBILITY STUDY; FINE NEEDLE ASPIRATION BIOPSY; FLUORESCENCE; GENE IDENTIFICATION; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; HYBRIDIZATION; MAJOR CLINICAL STUDY; MOLECULAR PROBE; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; PYROSEQUENCING; REAL TIME POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; THYROID NODULE;

BIOPSY, FINE-NEEDLE; GTP PHOSPHOHYDROLASES; HUMANS; MEMBRANE PROTEINS; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; PROTO-ONCOGENE PROTEINS P21(RAS); RAS PROTEINS; SEQUENCE ANALYSIS, DNA; THYROID NEOPLASMS; THYROID NODULE;

EID: 84879505277     PISSN: 00185043     EISSN: 14394286     Source Type: Journal    
DOI: 10.1055/s-0033-1337987     Document Type: Article

References (21)

1. Jemal A., Bray F., Center M. M., Ferlay J., Ward E., Forman D. Global cancer statistics. CA Cancer J Clin: 2011; 61 69 90
2. Hegedus L. Clinical practice. The thyroid nodule. N Engl J Med: 2004; 351 1764 1771
3. Paschke R., Hegedus L., Alexander E., Valcavi R., Papini E., Gharib H. Thyroid nodule guidelines: agreement, disagreement and need for future research. Nat Rev Endocrinol: 2011; 7 354 361
4. Kondo T., Ezzat S., Asa S. L. Pathogenetic mechanisms in thyroid follicular-cell neoplasia. Nat Rev Cancer: 2006; 6 292 306
5. Eszlinger M., Paschke R. Molecular fine-needle aspiration biopsy diagnosis of thyroid nodules by tumor specific mutations and gene expression patterns. Mol Cell Endocrinol: 2010; 322 29 37
6. Moses W., Weng J., Sansano I., Peng M., Khanafshar E., Ljung B. M., Duh Q. Y., Clark O. H., Kebebew E. Molecular testing for somatic mutations improves the accuracy of thyroid fine-needle aspiration biopsy. World J Surg: 2010; 34 2589 2594
7. Nikiforova M. N., Nikiforov Y. E. Molecular diagnostics and predictors in thyroid cancer. Thyroid: 2009; 19 1351 1361
8. Ferraz C., Eszlinger M., Paschke R. Current state and future perspective of molecular diagnosis of fine-needle aspiration biopsy of thyroid nodules. J Clin Endocrinol Metab: 2011; 96 2016 2026
9. Cantara S., Capezzone M., Marchisotta S., Capuano S., Busonero G., Toti P., Di S. A., Caruso G., Carli A. F., Brilli L., Montanaro A., Pacini F. Impact of proto-oncogene mutation detection in cytological specimens from thyroid nodules improves the diagnostic accuracy of cytology. J Clin Endocrinol Metab: 2010; 95 1365 1369
10. Hayashida N., Namba H., Kumagai A., Hayashi T., Ohtsuru A., Ito M., Saenko V. A., Maeda S., Kanematsu T., Yamashita S. A rapid and simple detection method for the BRAF(T1796A) mutation in fine-needle aspirated thyroid carcinoma cells. Thyroid: 2004; 14 910 915 (Pubitemid 39612909)
11. Jin L., Sebo T. J., Nakamura N., Qian X., Oliveira A., Majerus J. A., Johnson M. R., Lloyd R. V. BRAF mutation analysis in fine needle aspiration (FNA) cytology of the thyroid. Diagn Mol Pathol: 2006; 15 136 143 (Pubitemid 44325474)
12. Kimura E. T., Nikiforova M. N., Zhu Z., Knauf J. A., Nikiforov Y. E., Fagin J. A. High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma. Cancer Res: 2003; 63 1454 1457 (Pubitemid 36373628)
13. Nikiforova M. N., Kimura E. T., Gandhi M., Biddinger P. W., Knauf J. A., Basolo F., Zhu Z., Giannini R., Salvatore G., Fusco A., Santoro M., Fagin J. A., Nikiforov Y. E. BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomas. J Clin Endocrinol Metab: 2003; 88 5399 5404 (Pubitemid 37452745)
14. Rowe L. M., Bentz B. M., Bentz J. M. Utility of BRAF V600E mutation detection in cytologically indeterminate thyroid nodules. Cytojournal: 2006; 3 10
15. Sapio M. R., Posca D., Troncone G., Pettinato G., Palombini L., Rossi G., Fenzi G., Vitale M. Detection of BRAF mutation in thyroid papillary carcinomas by mutant allele-specific PCR amplification (MASA). Eur J Endocrinol: 2006; 154 341 348
16. Nikiforov Y. E., Steward D. L., Robinson-Smith T. M., Haugen B. R., Klopper J. P., Zhu Z., Fagin J. A., Falciglia M., Weber K., Nikiforova M. N. Molecular Testing for Mutations in Improving the Fine Needle Aspiration Diagnosis of Thyroid Nodules. J Clin Endocrinol Metab: 2009; 94 2092 2098
17. Cooper D. S., Doherty G. M., Haugen B. R., Kloos R. T., Lee S. L., Mandel S. J., Mazzaferri E. L., McIver B., Sherman S. I., Tuttle R. M. Management guidelines for patients with thyroid nodules and differentiated thyroid cancer. Thyroid: 2006; 16 109 142
18. Ferraz C., Rehfeld C., Krogdahl A., Precht Jensen E. M., Bosenberg E., Narz F., Hegedus L., Paschke R., Eszlinger M. Detection of PAX8/PPARG and RET/PTC Rearrangements Is Feasible in Routine Air-Dried Fine Needle Aspiration Smears. Thyroid: 2012; 22 1025 1030
19. Guerra A., Sapio M. R., Marotta V., Campanile E., Rossi S., Forno I., Fugazzola L., Budillon A., Moccia T., Fenzi G., Vitale M. The primary occurrence of BRAF(V600E) is a rare clonal event in papillary thyroid carcinoma. J Clin Endocrinol Metab: 2012; 97 517 524
20. Unger K., Zitzelsberger H., Salvatore G., Santoro M., Bogdanova T., Braselmann H., Kastner P., Zurnadzhy L., Tronko N., Hutzler P., Thomas G. Heterogeneity in the distribution of RET/PTC rearrangements within individual post-Chernobyl papillary thyroid carcinomas. J Clin Endocrinol Metab: 2004; 89 4272 4279 (Pubitemid 39244425)
21. Zhu Z., Ciampi R., Nikiforova M. N., Gandhi M., Nikiforov Y. E. Prevalence of RET/PTC rearrangements in thyroid papillary carcinomas: effects of the detection methods and genetic heterogeneity. J Clin Endocrinol Metab: 2006; 91 3603 3610 (Pubitemid 44402144)