Metastatic Anaplastic Thyroid Carcinoma in Complete Remission: Morphological, Molecular, and Clinical Work-Up of a Rare Case

Endocr Pathol. 2020 Mar;31(1):77-83. doi: 10.1007/s12022-020-09606-5.

Abstract

Anaplastic thyroid carcinoma (ATC) exhibits an exceedingly poor prognosis, and the current treatment options are, for most cases, palliative by nature. Few reports of long-time survivors exist, although in these patients, tumors often were limited to the thyroid and/or regional lymph nodes. We describe a 64-year-old male who developed a rapidly growing mass in the left thyroid lobe. A fine-needle aspiration biopsy (FNAB) was consistent with ATC, and the patient underwent preoperative combined chemo- and radiotherapy followed by a hemithyroidectomy. The ensuing histopathological investigation was consistent with ATC adjoined by an oxyphilic well-differentiated lesion, likely a Hürthle cell carcinoma. Tumor margins were negative, and no extrathyroidal extension was noted. Focused next-generation sequencing analysis of the primary tumor tissue identified a TP53 gene mutation but could not identify any potential druggable targets. Additional Sanger sequencing detected a C228T TERT promoter mutation. The tumor was found to be microsatellite stable and displayed PDL1 expression in 80% of tumor cells. Following a CT scan 1 month postoperatively, metastatic deposits were suspected in the lung as well as in the left adrenal gland, of which FNAB verified the latter. Remarkably, upon radiological follow-up, the disease had gone into apparent complete remission. The patient is alive and well with no signs of residual disease after 12 months of follow-up. We here summarize the clinical, histological, and molecular data of this highly interesting patient case and review the literature for possible common denominators with other patients with disseminated ATC.

Keywords: Anaplastic thyroid carcinoma; Molecular genetics; Prognosis; Remission; Survival.

Publication types

  • Case Reports

MeSH terms

  • Chemoradiotherapy, Adjuvant
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Neoadjuvant Therapy / methods
  • Remission Induction
  • Telomerase / genetics
  • Thyroid Carcinoma, Anaplastic / genetics
  • Thyroid Carcinoma, Anaplastic / pathology*
  • Thyroid Carcinoma, Anaplastic / therapy*
  • Thyroid Neoplasms / genetics
  • Thyroid Neoplasms / pathology*
  • Thyroid Neoplasms / therapy*
  • Thyroidectomy
  • Tumor Suppressor Protein p53 / genetics

Substances

  • TP53 protein, human
  • Tumor Suppressor Protein p53
  • TERT protein, human
  • Telomerase