An impressive response with larotrectinib in a patient with a papillary thyroid carcinoma harboring an SQSTM1-NTRK1 fusion

Eur J Endocrinol. 2022 Feb 23;186(4):K5-K8. doi: 10.1530/EJE-21-0509.

Abstract

rearrangements represent a very rare genomic abnormality among all cancers but can be detected in thyroid cancer with a non-negligible frequency of 2%. Dramatic clinical responses to therapies targeting NTRK chimeric proteins are now well described in the literature. SQSTM1-NTRK1fusions have not yet been described in a full clinical case report. We report a patient with a papillary thyroid carcinoma harboring this unique rearrangement, with an impressive clinical and radiologic response to larotrectinib, a highly specific inhibitor.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Gene Fusion / genetics
  • Humans
  • Middle Aged
  • Pyrazoles / therapeutic use*
  • Pyrimidines / therapeutic use*
  • Receptor, trkA / genetics*
  • Sequestosome-1 Protein / genetics*
  • Thyroid Cancer, Papillary / diagnostic imaging*
  • Thyroid Cancer, Papillary / drug therapy
  • Thyroid Cancer, Papillary / genetics*
  • Thyroid Neoplasms / diagnostic imaging
  • Thyroid Neoplasms / drug therapy
  • Thyroid Neoplasms / genetics*
  • Treatment Outcome

Substances

  • NTRK1 protein, human
  • Pyrazoles
  • Pyrimidines
  • SQSTM1 protein, human
  • Sequestosome-1 Protein
  • Receptor, trkA
  • larotrectinib