Unexpected Widespread Bone Metastases from a BRAF K601N Mutated Follicular Thyroid Carcinoma within a Previously Resected Multinodular Goiter

Endocr Pathol. 2022 Dec;33(4):519-524. doi: 10.1007/s12022-021-09698-7. Epub 2021 Nov 29.

Abstract

Follicular thyroid carcinoma (FTC) represents the second most common malignant thyroid neoplasm after papillary carcinoma (PTC). FTC is characterized by the tendency to metastasize to distant sites such as bone and lung. In the last 20 years, the understanding of the molecular pathology of thyroid tumors has greatly improved. Uncommon BRAF non-V600E mutations have been identified and are generally believed to associate with follicular patterned tumors of low malignant potential, particularly non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTPs) (i.e., non-invasive encapsulated follicular variant PTC). We here report for the first time widespread bone metastases from a BRAF K601N mutated follicular tumor.

Keywords: BRAF mutation; Bone metastases; Chromosome 19; Follicular thyroid carcinoma; K601N; Next-generation sequencing.

Publication types

  • Case Reports

MeSH terms

  • Adenocarcinoma, Follicular* / genetics
  • Adenocarcinoma, Follicular* / pathology
  • Bone Neoplasms* / secondary
  • Goiter
  • Humans
  • Mutation
  • Proto-Oncogene Proteins B-raf / genetics
  • Thyroid Neoplasms* / genetics
  • Thyroid Neoplasms* / pathology

Substances

  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf