Metastatic-prone telomerase reverse transcriptase (TERT) promoter and v-Raf murine sarcoma viral oncogene homolog B (BRAF) mutated tall cell variant of papillary thyroid carcinoma arising in ectopic thyroid tissue: A case report.
Journal
Medicine
ISSN: 1536-5964
Titre abrégé: Medicine (Baltimore)
Pays: United States
ID NLM: 2985248R
Informations de publication
Date de publication:
15 Jan 2021
15 Jan 2021
Historique:
received:
21
09
2020
accepted:
17
12
2020
entrez:
20
1
2021
pubmed:
21
1
2021
medline:
26
1
2021
Statut:
ppublish
Résumé
Mutations of the v-Raf murine sarcoma viral oncogene homolog B (BRAF) oncogene and telomerase reverse transcriptase (TERT) promoter region are indicators of poor prognosis in papillary thyroid carcinoma (PTC) and might predict future occurrences of distant metastases. However, the clinical significance of these genetic aberrancies in PTCs arising in ectopic locations is not well established. We describe a patient with a previous history of radioiodine (RAI)-treated hyperthyroidism and a surgically resected right-sided follicular thyroid adenoma. In 2013, a 6 mm follicular variant papillary thyroid carcinoma was diagnosed following a left-sided thyroid lobectomy. The central compartment displayed 9 tumor-free lymph nodes, and no adjuvant treatment was planned. Three years later, a 26 mm pre-tracheal relapse was noted, however, the excised lesion was consistent with a tall cell variant of papillary thyroid carcinoma (TCV-PTC) arising in ectopic thyroid tissue. RAI treatment was commenced. Four years later, a 5 mm subcutaneous lesion in the anterior neck was surgically removed and diagnosed as metastatic TCV-PTC with a codon 600 BRAF mutation and a C228T TERT promoter mutation. RAI treatment was re-initiated. Molecular re-examination of the primary follicular variant papillary thyroid carcinoma demonstrated a codon 600 BRAF mutation and a TERT promoter wildtype sequence, while the primary TCV-PTC was positive for mutations in both codon 600 of BRAF as well as the TERT promoter. The patient is alive and well without signs of relapse 7 months after the latest round of RAI. We conclude that the occurrence of combined BRAF and TERT promoter mutations in the primary lesion from 2016 was associated to the manifestation of distant metastases 4 years later, strengthening the benefit of mutational screening of these genes in clinical routine for thyroid carcinomas arising in aberrant locations.
Identifiants
pubmed: 33466206
doi: 10.1097/MD.0000000000024237
pii: 00005792-202101150-00089
pmc: PMC7808519
doi:
Substances chimiques
BRAF protein, human
EC 2.7.11.1
Proto-Oncogene Proteins B-raf
EC 2.7.11.1
TERT protein, human
EC 2.7.7.49
Telomerase
EC 2.7.7.49
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e24237Subventions
Organisme : Cancerfonden
ID : Junior Clinical Investigator Award
Informations de copyright
Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to disclose.
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