Identification of Hürthle cell cancers: solving a clinical challenge with genomic sequencing and a trio of machine learning algorithms.

Journal: BMC systems biology
PMID:

Abstract

BACKGROUND: Identification of Hürthle cell cancers by non-operative fine-needle aspiration biopsy (FNAB) of thyroid nodules is challenging. Resultingly, non-cancerous Hürthle lesions were conventionally distinguished from Hürthle cell cancers by histopathological examination of tissue following surgical resection. Reliance on histopathological evaluation requires patients to undergo surgery to obtain a diagnosis despite most being non-cancerous. It is highly desirable to avoid surgery and to provide accurate classification of benignity versus malignancy from FNAB preoperatively. In our first-generation algorithm, Gene Expression Classifier (GEC), we achieved this goal by using machine learning (ML) on gene expression features. The classifier is sensitive, but not specific due in part to the presence of non-neoplastic benign Hürthle cells in many FNAB.

Authors

  • Yangyang Hao
    Department of Research & Development, Veracyte, Inc, 6000 Shoreline Court, Suite 300, South San Francisco, CA, 94080, USA.
  • Quan-Yang Duh
    Department of Surgery, Section of Endocrine Surgery, University of California San Francisco, San Francisco, CA, USA.
  • Richard T Kloos
  • Joshua Babiarz
    Department of Research & Development, Veracyte, Inc, 6000 Shoreline Court, Suite 300, South San Francisco, CA, 94080, USA.
  • R Mack Harrell
  • S Thomas Traweek
    Thyroid Cytopathology Partners, Austin, TX, USA.
  • Su Yeon Kim
  • Grazyna Fedorowicz
    Department of Research & Development, Veracyte, Inc, 6000 Shoreline Court, Suite 300, South San Francisco, CA, 94080, USA.
  • P Sean Walsh
  • Peter M Sadow
    Department of Pathology, Head and Neck Pathology Division, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Jing Huang
    Department of Nephrology, The Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
  • Giulia C Kennedy