Molecular pathology and its relevance to thyroid FNA

David Poller, Sharon Glaysher

Research output: Contribution to journalLiterature reviewpeer-review

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Abstract

This review summarises molecular pathological techniques applicable to thyroid FNA. The molecular pathology of thyroid tumours is now fairly well understood. Molecular methods may be used as a rule-in test for diagnosis of malignancy in thyroid nodules e.g. BRAF V600E point mutation, use of a 7 gene mutational panel (BRAF V600E, RAS genes, RET/PTC or PAX8/PPARG rearrangement), or as a comprehensive multigene next-generation sequencing panel e.g. ThyroSeq v2. Molecular methods can also be applied as rule-out tests for malignancy in thyroid nodules e.g. Afirma or ThyroSeq v2 or as markers of prognosis e.g. TERT promoter mutation or other gene mutations including BRAF V600E, TP53 & AKT1 and as tests for newly defined tumour entities such as NIFTP, or as a molecular marker(s) for targeted therapies. This review describes practical examples of molecular techniques as applied to thyroid FNA in routine clinical practice.
Original languageEnglish
Pages (from-to)475-481
Number of pages7
JournalCytopathology
Volume28
Issue number6
Early online date22 Nov 2017
DOIs
Publication statusPublished - 1 Dec 2017

Keywords

  • diagnosis
  • fine-needle aspiration
  • molecular
  • neoplasms
  • pathology
  • thyroid

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