Tiroid Nodülü Genomik Profillemesi: ThyroSeq Yeni-Nesil Dizinlemenin Klinik Karar Verme Üzerinde Güncel Rolü

Translated title of the contribution: Genomic profiling of thyroid nodules: Current role for ThyroSeq next-generation sequencing on clinical decision-making

Atil Y. Kargi, Marcela Perez Bustamante, Seza Gulec

Research output: Contribution to journalReview articlepeer-review

7 Scopus citations

Abstract

In recent years there has been an increased awareness of the genetic alterations underlying both benign and malignant neoplasms of the thyroid. Next-generation sequencing (NGS) is an emerging technology that allows for rapid detection of a large number of genetic mutations in thyroid fine-needle aspiration (FNA) specimens. NGS for targeted mutational analysis in thyroid tumors has been proposed as a tool to assist in the diagnosis of thyroid nodules with indeterminate FNA cytology. Results of genomic testing of thyroid nodules and thyroid cancers could also have prognostic implications and play a role in determining optimal treatment strategies including targeted therapies. We provide a critical review of existing studies assessing the performance of the ThyroSeq NGS test for the diagnosis and management of patients with thyroid nodules with indeterminate cytopathology and discuss the applicability of findings from these studies to clinical practice. While there are early indications to suggest a possible utility of data obtained from NGS to aid in prognostication and therapeutic decisionmaking in thyroid cancer, we recommend judicious use and cautious interpretation of such molecular testing until results of ongoing clinical trials become available. Lastly, we discuss recommendations provided from clinical practice guidelines regarding the use of mutation detection via NGS in the diagnostic evaluation of thyroid nodules.

Translated title of the contributionGenomic profiling of thyroid nodules: Current role for ThyroSeq next-generation sequencing on clinical decision-making
Original languageTurkish
Pages (from-to)24-35
Number of pages12
JournalMolecular Imaging and Radionuclide Therapy
Volume26
DOIs
StatePublished - 2017

Keywords

  • Genomic profiling
  • Molecular testing
  • Next-generation sequencing
  • ThyroSeq
  • Thyroid cancer
  • Thyroid nodule

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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