Gene Expression Classifier and Medullary Thyroid Cancer

A gene expression classifier raised suspicion of Medullary Thyroid Cancer (MTC) in pre-operative fine needle aspiration (FNA) analysis of cytologically indeterminate and malignant neoplasms.  A pre-operative diagnosis of MTC may extend importance to evaluation of Multiple Endocrine Neoplasma Type 2 (MEN2) and concurrently existing pheochromocytoma.

More than 10,000 thyroid FNA samples were obtained from several studies:
  • 49 multicenter practice sites (N=4,812)
  • One academic center (N=155)
  • One academic center ex-vivo  (N=172)
  • Veracyte CLIA laboratory  (N=6,378)

About the Samples
  • Samples with inadequate RNA were excluded. 
  • The gene expression classifier was run prospectively and pre-operatively on all cytologically indeterminant samples.
  • A small number of FNAs with malignant cytology were confirmed to be MTC by surgical pathology.

Gene expression classifier outcomes:
  • 13 samples "suspicious" for MTC
  • 11 samples confirmed as MTC during diagnostic histopathology
  • 2 outcomes pending surgery
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