Abstract
Thyroid nodules are a common problem worldwide. The incidence and aetiology of nodule formation may vary by geography, but a common problem faced by all physicians is how to differentiate benign disease from malignancy. Clinical examination and ultrasonography may identify advanced thyroid carcinoma, but the diagnosis of the vast majority of well-differentiated thyroid cancers (WDTC) relies upon fine-needle aspiration biopsy (FNAB). Important advances in timely identification and management of thyroid cancer have been achieved by improvements in biopsy technique and standardization of thyroid cytopathology reporting. However, many patients still require a thyroid lobectomy before malignancy can be diagnosed. Minimizing the morbidity and cost of diagnostic surgery is an important goal given that the number of patients screened for thyroid malignancy continues to increase significantly across the world. In both the northern and southern hemispheres the incidence of thyroid cancer has more than doubled in the past two decades. Many investigators are now focusing their efforts on improving the diagnostic potential of aspiration biopsies through molecular diagnostics. Success in these efforts is reflected by the appearance of commercially available options for molecular diagnostics in thyroid nodule specimens. In the future, immunocytochemical markers combined with mutation analysis and large-scale genetic sequencing are likely to be used to define distinct benign and malignant signatures in thyroid neoplasms.
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K. Alok Pathak
The diagnosis of well-differentiated thyroid cancer (WDTC) is often made by fine-needle aspiration biopsy (FNAB); however, differentiating benign and malignant follicular neoplasms remains a challenge that often requires a diagnostic hemi-thyroidectomy or lobectomy. Encouraging results have been obtained by improving the diagnostic potential of aspiration biopsies through molecular diagnostics, such as gene expression, protein and miRNA profiling. Future developments to define distinct benign and malignant signatures in thyroid neoplasms are likely to include immunocytochemical markers combined with mutation analysis and large-scale genetic sequencing.
In this chapter, Doctors McMullen and Williams discuss the limitations of conventional cytology and the possible diagnostic role of molecular signatures that have been derived from the studies examining how changes in gene and protein expression translate into the unique thyroid cancer phenotypes. In the near future, physicians may be able to routinely combine gene expression and mutation analysis with cytopathology to predict malignancy in thyroid neoplasms. FNAB sampling will continue to remain a challenge, as it provides a limited number of cells and requires fixatives or air drying, which restricts the quality and quantity of protein, RNA and DNA for expression analysis. Furthermore, it does not fulfil the criteria of simplicity, reproducibility and accuracy, for it to become accepted widely as an adjunct to routine cytological analysis for the accuracy of thyroid aspirates.
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© 2015 K. Alok Pathak, Richard W. Nason, Janice L. Pasieka, Rehan Kazi, Raghav C. Dwivedi
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McMullen, T.P.W., Williams, D.C. (2015). Molecular Risk Stratification of Well-Differentiated Thyroid Cancer. In: Pathak, K., Nason, R., Pasieka, J. (eds) Management of Thyroid Cancer. Head and Neck Cancer Clinics. Springer, New Delhi. https://doi.org/10.1007/978-81-322-2434-1_1
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