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New technology in thyroid fine-needle aspiration

Competing interests None. Provenance and peer review Not commissioned; internally peer reviewed.

D N Poller There have been many recent developments in thyroid fine-needle aspiration (FNA). Thyroid fine-needle aspiration was traditionally practised freehand although in recent years the majority of thyroid fineneedle aspirations are now taken under ultrasound guidance.1 While thyroid fineneedle aspiration practice has changed relatively little, new molecular technologies have developed apace. The principal new technology is the application of molecular markers to thyroid fine-needle aspirates.2 The prototypical marker is BRAF V600E. Mutations of the BRAF V600 gene in thyroid cancer were described over 10 years ago and are quite common in thyroid cancer, melanoma and adenocarcinomas, such as lung and colorectal tumours.3 Mutation of the BRAF V600E within primary tumours of the thyroid is a highly specific indicator of thyroid cancer and most published series indicate specificity for cancer of 100%,4 although only approximately 50% of all thyroid primary tumours show BRAF V600E mutations as mutations are confined to papillary carcinoma, or tumours which may show a papillary component, such as anaplastic carcinoma with papillary differentiation.5 Unfortunately, routine practice frequently lags behind the available technology and while the use of BRAF V600E mutation analysis has been clearly shown to have the potential to be cost effective in reducing the need for completion thyroidectomy of the thyroid6 7 its adoption by UK NHS has been delayed by the absence of a technology appraisal from The National Institute of Healthcare Excellence or other national guidance that recommends introduction of BRAF V600E cotesting for thyroid FNA.

Correspondence to Dr D N Poller, Department of Pathology, Queen Alexandra Hospital, Cosham, Portsmouth PO6 3LY, UK; [email protected]

Poller DN. J Clin Pathol June 2014 Vol 67 No 6

Aside from BRAF V600 there are now a whole series of other markers which have been used for diagnosis of thyroid nodules. Two competing systems are the Asuragen miRInform molecular panel and The Veracyte Afirma Gene Classifier.8 Both have advantages and drawbacks although the cost of testing is significant with both systems, and neither system is 100% specific for separation of benign and malignant nodules.8 Use of these systems within the UK National Health Service would require an adequately powered clinical trial of clinical utility and cost effectiveness in an NHS setting. Perhaps the most challenging issue also is how to reduce the number of low cellularity/inadequate fine-needle aspirates of thyroid as inadequate or low cellularity aspirates may lead to unnecessary surgery for thyroid nodules.9 It has been shown that it can be cost effective to screen thyroid fine-needle aspirates in the clinic for quality and cellular adequacy, and that this can be performed by non-medically trained biomedical scientists (cytotechnologists),10 11 however, this practice has not been widely adopted within the UK NHS because it is not currently required in UK national guidance for thyroid fine-needle aspiration. Even newer technologies, such as whole genomic sequencing have been advocated, and these show much promise for the future with the ‘thousand dollar personalised genome’ now a realistic possibility which, in turn, opens many issues relating to patient consent and the use of genomic information which is beyond the scope of this review.12 As with all new technologies, there is a lag phase from development of a new technology to its implementation. There is now pressing need to adopt new technologies in preoperative diagnosis of thyroid that are proven to be effective clinically and on cost effectiveness grounds as soon as possible within the UK NHS.

To cite Poller DN. J Clin Pathol 2014;67:457. Received 11 March 2014 Accepted 14 March 2014 Published Online First 2 April 2014 J Clin Pathol 2014;67:457. doi:10.1136/jclinpath-2014-202284



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Poller DN, Stelow EB, Yiangou C. Thyroid FNAC cytology: can we do it better? Cytopathology 2008;19:4–10. Hodak SP, Rosenthal DS, American Thyroid Association Clinical Affairs Committee. Information for clinicians: commercially available molecular diagnosis testing in the evaluation of thyroid nodule fine-needle aspiration specimens. Thyroid 2013;23:131–4. Davies H, Bignell GR, Cox C, et al. Mutations of the BRAF gene in human cancer. Nature 2002;417:949–54. Sarne DH. A piece of the puzzle: what does BRAF status mean in the management of patients with papillary thyroid carcinoma? J Clin Endocrinol Metab 2012;97:3094–6. Nikiforov YE, Ohori NP. Papillary carcinoma. In: Nikiforov YE, Biddinger PW, Thompson LDR, eds. Diagnostic pathology and molecular genetics of the thyroid: a comprehensive guide for practicing thyroid pathology. 2nd edn. Lippincott Williams & Wilkins, 2012:183–246. Poller DN, Glaysher S. BRAF V600 co-testing is technically feasible in conventional thyroid fine needle aspiration (FNA) cytology smears and can reduce the need for completion thyroidectomy. Cytopathology 2013. In press. Johnson SJ, Hardy SA, Roberts C, et al. Pilot of BRAF mutation analysis in indeterminate, suspicious and malignant thyroid FNA cytology. Cytopathology 2014. In press. Hodak SP, Rosenthal DS. Information for clinicians: commercially available molecular diagnosis testing in the evaluation of thyroid nodule fine-needle aspiration specimens. Thyroid 2013;23:131–4. Poller DN, Kandaswamy P. A simplified economic approach to thyroid FNA cytology and surgical intervention in thyroid nodules. J Clin Pathol 2013;66:583–8. Breeze J, Poller DN, Gibson D, et al. Rapid on-site assessment of specimens by biomedical scientists improves the quality of head and neck fine needle aspiration cytology. Cytopathology 2013. In press. Stelow EB. Who should perform rapid or on-site assessment of thyroid fine-needle aspirations? Am J Clin Pathol 2012;138:8–9. Nikiforova MN, Wald AI, Roy S, et al. Targeted next-generation sequencing panel (ThyroSeq) for detection of mutations in thyroid cancer. J Clin Endocrinol Metab 2013;98:E1852–60.


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New technology in thyroid fine-needle aspiration D N Poller J Clin Pathol 2014 67: 457 originally published online April 2, 2014

doi: 10.1136/jclinpath-2014-202284

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