Unmet Need
Thyroid cancer is the most common malignancy of the endocrine system, representing 2.9% of all new cancer cases in the United States and is the fifth most common cancer in women. Every year, about 12,000 men and 35,000 women are diagnosed with thyroid cancer, and more than 900 men and 1,100 women die from the disease. Although fine needle aspiration (FNA) cytology is the most accurate means of diagnosing thyroid nodules, up to 30% of FNA samples are “indeterminate” and require further molecular diagnostics. This situation has been further complicated by the American Thyroid Association’s (ATA) recent reclassification of a subgroup of a malignant follicular variant of papillary thyroid carcinoma (FVPTC) to nonmalignant noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP), a neoplasm with very low malignant potential in the management guidelines for thyroid tumors. Currently, there is no in vitro test that can definitively assess thyroid nodule status in all indeterminate cases and inform the optimal surgical approach based on risk-benefit ratio. All current molecular tests have high sensitivity but suffer from a lack of specificity, resulting in overtreatment of benign lesions and unnecessary surgeries. Overtreatment of indolent thyroid cancer is not only associated with side effects and risks, but also with significant economic impact. Thus, a new approach is urgently needed to provide accurate preoperative assessment of thyroid nodules to avoid thyroidectomy for indolent disease.
Technology Overview
The inventors at Johns Hopkins have developed a quantitative RT-PCR based diagnostic gene panel with high sensitivity and specificity to distinguish benign from malignant tumors. This 5-gene isoform expression model requires FNA with only 12-37 thyroid cells and has about 86% ability to distinguish between malignant and benign thyroid tumors (specificity 91%, sensitivity 75%). It also has about 75% ability to differentiate indolent NIFTP from invasive FVPTC and papillary thyroid cancer (specificity 87%, sensitivity 63%). This panel has been optimized for evaluation of preoperative thyroid FNA cytology material. It has shown superior ability in discriminating benign from malignant tumors and classifying the newly introduced NIFTP subset of tumors.
Stage of Development
A provisional patent has been filed for this technology, and further validation trials will be needed to develop this panel as a diagnostic assay to guide preoperative surgical decision-making for thyroid tumors.
Publications
Wang, Y., McKelvey, B.A., Liu, Z. et al. Retrospective analysis of cancer-specific gene expression panel for thyroid fine needle aspiration specimens. J Cancer Res Clin Oncol147, 2983–2991 (2021). https://doi.org/10.1007/s00432-021-03706-3
