Rare Manifestations of Anaplastic Thyroid Carcinoma: the Role of BRAF Mutation Analysis

J Korean Med Sci. 2017 Oct;32(10):1721-1726. doi: 10.3346/jkms.2017.32.10.1721.

Abstract

Anaplastic thyroid carcinoma (ATC) is difficult to distinguish from other cancers, especially when its pathological features are atypical for ATC or when the tumor is totally undifferentiated and occurs after a considerable lapse of time, in an area remote from the original site of the tumor. Here, we present two patients (68-year-old man and 56-year-old woman) with rare manifestations of ATC, which were initially thought to be other malignancies. Immunohistochemical tests, using various markers, failed to provide information about the origin of these tumors. However, both patients had a history of papillary thyroid carcinoma (PTC) from several years ago and BRAF mutations were observed in the undifferentiated tumors, as well as in the previous PTCs. Therefore, we could make a diagnosis of ATC derived from PTC. As such, BRAF mutation analysis may serve as a useful tool for ATC diagnosis in challenging ATC cases.

Keywords: Anaplastic Thyroid Carcinoma; BRAF; Immunohistochemistry; Papillary Thyroid Carcinoma.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Carcinoma, Papillary / diagnosis*
  • Carcinoma, Papillary / genetics
  • Carcinoma, Papillary / pathology
  • DNA Mutational Analysis
  • Female
  • Humans
  • Immunohistochemistry
  • Male
  • Middle Aged
  • Neoplasm Recurrence, Local
  • Polymorphism, Single Nucleotide
  • Proto-Oncogene Proteins B-raf / genetics*
  • Thyroglobulin / analysis
  • Thyroid Cancer, Papillary
  • Thyroid Carcinoma, Anaplastic / diagnosis*
  • Thyroid Carcinoma, Anaplastic / genetics
  • Thyroid Carcinoma, Anaplastic / pathology
  • Thyroid Neoplasms / diagnosis*
  • Thyroid Neoplasms / genetics
  • Thyroid Neoplasms / pathology
  • Thyrotropin / analysis

Substances

  • Thyrotropin
  • Thyroglobulin
  • Proto-Oncogene Proteins B-raf