Targeted Mutational Profiling and a Powerful Risk Score as Additional Tools for the Diagnosis of Papillary Thyroid Cancer

Barbara Kocsis-Deák, Kristóf Árvai, Bernadett Balla, Bálint Tóbiás, Andrea Kohánka, Balázs Járay, János Horányi, János Podani, István Takács, Zsuzsanna Putz, János Kósa, Péter Lakatos

Research output: Contribution to journalArticle

1 Citation (Scopus)


Nowadays, the complementary diagnostics based on the suspicious thyroid lesion specific mutational state analysis is indispensable in the clinical practice. We aimed to test and validate our novel 568-mutational hotspot panel (23 cancer-related genes) on papillary thyroid cancers (PTCs) and their tumor-free pairs to find the most powerful mutation pattern related to PTC. The sequencing method was carried on with Ion Torrent PGM on 67 thyroid tissue samples. The most commonly detected mutation was the BRAF c.1799 T > A in all non-classical PTC cases. We utilized a multivariate statistical method (CVA) to determine a discrimination score based on mutational data array and to assess malignancy risk. Based on variants, the BRAF gene has by far the highest indicative power, followed by TSHR and APC. We highlighted novel aspects of the mutational profile and genetic markers of PTC. CVA has correctly assigned most of the samples based on the mutation frequencies and different variables of the selected genes, with high analytical probabilities. The final goal is to set up a new comprehensive rule-in and rule-out test to support the clinical decision making mainly in inconclusive fine-needle aspiration biopsy cases.

Original languageEnglish
Pages (from-to)101-108
Number of pages8
JournalPathology and Oncology Research
Issue number1
Publication statusPublished - Jan 1 2020


  • Multivariate statistical method
  • New hotspot panel
  • Next generation sequencing
  • Papillary thyroid cancer
  • Risk score

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Oncology
  • Cancer Research

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