Blood Liquid Biopsy in an Advanced Medullary Thyroid Carcinoma: A Case Study with Rearranged during Transfection Heterogeneity.
Biopsy
Carcinoma
Liquid
Medullary
Next-generation sequencing
Thyroid
Journal
Pathobiology : journal of immunopathology, molecular and cellular biology
ISSN: 1423-0291
Titre abrégé: Pathobiology
Pays: Switzerland
ID NLM: 9007504
Informations de publication
Date de publication:
2023
2023
Historique:
received:
23
03
2022
accepted:
14
09
2022
medline:
11
8
2023
pubmed:
3
2
2023
entrez:
2
2
2023
Statut:
ppublish
Résumé
Liquid biopsy is an innovative and efficient method for studying circulating tumor DNA. In conjunction with innovative techniques such as next-generation sequencing, it can provide real-time information on prognostic and predictive factors. We report a case of advanced, unresectable medullary thyroid carcinoma with various rearranged during transfection (RET) and Kirsten rat sarcoma viral (KRAS) mutations in both blood liquid and tissue biopsies. After the initial failure of treatment with a tyrosine kinase inhibitor (TKI), a liquid biopsy analyzed by next-generation sequencing showed the presence of six different RET mutations and KRAS. Tissue biopsy also revealed two RET mutations. Due to these biopsy findings, the treatment was changed to another TKI, and the patient is now clinically stable. Liquid biopsy makes it possible to analyze different genetic alterations that may have implications as predictive factors. It also reveals tumor heterogeneity and its implications for prognostic factors.
Identifiants
pubmed: 36731433
pii: 000527184
doi: 10.1159/000527184
doi:
Substances chimiques
Proto-Oncogene Proteins p21(ras)
EC 3.6.5.2
Proto-Oncogene Proteins c-ret
EC 2.7.10.1
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
281-288Informations de copyright
© 2023 S. Karger AG, Basel.