This content is part of a paid partnership with Clinipath Pathology.
Dr Dessauvagie is a histocytopathologist and head of cytology at CliniPath Laboratories with an interest in the power of cytology through the use of adjunct tests.
Clinipath Pathology is introducing ThyroSeq®, a new molecular diagnostic tool that uses next-generation DNA and RNA sequencing to classify thyroid nodules.
- With ThyroSeq®, thyroid nodules with indeterminate cytology can be confidently diagnosed as either benign, avoiding many unnecessary surgeries; or neoplastic, with an assessment of risk of malignancy.
- ThyroSeq® uniquely reports the probability of cancer and a prediction of cancer recurrence, informing personalised patient management and allowing for single stage definitive surgical management.
Developed by Professor Yuri Nikiforov’s world-leading thyroid research team at the University of Pittsburgh, ThyroSeq® is able to show with a high level of certainty whether a nodule is likely to be benign or malignant without the need for diagnostic surgery.
Thyroid nodules are common, with up to 50% of people experiencing them by the age of 60. However, it is estimated that only 5-10% of these nodules harbour disease.
The cytology of a fine needle aspirate (FNA) from a thyroid nodule using the RCPA/ASC (Australasian) modified Bethesda system can confirm a diagnosis, and most FNA results can be confidently designated as benign (Category 2), or malignant (Category 6), with clear consequences for subsequent decision-making.
These indeterminate cases are resolved through performing diagnostic surgery that involves removing some or all of the thyroid gland. Diagnostic surgery allows for a definitive diagnosis, but an estimated 80% of the nodules removed by surgery are benign. This means that a great many patients receive what ultimately proves to be unnecessary surgery.
Since diagnostic surgery usually involves the conservative removal of only about half of the thyroid, when cancer is found, a second procedure or completion thyroidectomy is often needed to ensure the removal of all malignant cells.
Utility
- The ThyroSeq®Genomic Classifier uses genetic analysis of the FNA to clarify the risk of malignancy in nodules with Category 3-5 cytology.
- It uses next-generation sequencing to analyse the DNA and RNA of 112 thyroid-related genes for four main classes of molecular alterations, including mutations, gene fusions, copy number alterations, and gene expression alterations.
- It provides a reliable diagnosis of all types of thyroid nodules, including Hürthle cell nodules, medullary thyroid carcinoma, parathyroid, or other non-thyroidal lesions in a single workflow.
- When the ThyroSeq® analysis shows no genetic abnormalities, the risk of residual cancer is about 3%—a rate equal to that of a benign cytology result.
- ThyroSeq® is also used in Category 6 malignant nodules to assess the risk of recurrence and the need for adjuvant therapy such as radioactive iodine and targeted therapies.
Report
The ThyroSeq® report is easy to follow. It provides a simple positive or negative result, indicating whether the genes associated with cancer are present or absent. When abnormalities are present, the report lists all genetic alterations and provides the associated cancer risk, thus informing the required extent of surgery and therapeutic options.
Authors: Clinical Assoc. Prof. Benjamin Dessauvagie & Dr Rachael Chambers, Sullivan Nicolaides Pathology
Questions? Contact the editor.
Disclaimer: Please note, this website is not a substitute for independent professional advice. Nothing contained in this website is intended to be used as medical advice and it is not intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professional’s advice. Opinions expressed at this website do not necessarily reflect those of Medical Forum magazine. Medical Forum makes no warranties about any of the content of this website, nor any representations or undertakings about any content of any other website referred to, or accessible, through this website
