Cancer of unknown primary and BRAF V600E meeting the BEACON combination: A case report.

BRAF V600E cancer of unknown primary precision medicine next generation sequencing tumour agnostic therapy

Journal

Molecular and clinical oncology
ISSN: 2049-9469
Titre abrégé: Mol Clin Oncol
Pays: England
ID NLM: 101613422

Informations de publication

Date de publication:
Dec 2024
Historique:
received: 27 01 2024
accepted: 29 08 2024
medline: 11 10 2024
pubmed: 11 10 2024
entrez: 11 10 2024
Statut: epublish

Résumé

The diagnostic work-up of cancer of unknown primary (CUP) is a challenging task; in addition, only a little data on BRAF targeting in CUP are currently available. Traditionally, the identification of favourable and unfavourable CUP subsets directs the choice of treatment. The present article reports the case of a 50-year-old male patient presenting with a BRAF-mutated CUP, a rare and generally unfavourable subset. Based on imaging, immunohistochemistry and a high value of carbohydrate antigen 19-9, an upper gastrointestinal profile was initially presumed. After disease progression on treatment with a first-line platinum-based doublet chemotherapy, a significant response was documented after treatment with the BEACON combination. The present case report highlighted the paradigm shift in diagnosis and treatment of CUP from a histology-based approach to molecular profiling with the introduction of precision medicine.

Identifiants

pubmed: 39391046
doi: 10.3892/mco.2024.2786
pii: MCO-21-6-02786
pmc: PMC11462391
doi:

Types de publication

Case Reports Journal Article

Langues

eng

Pagination

88

Informations de copyright

Copyright: © 2024 Maly et al.

Déclaration de conflit d'intérêts

The authors declare that they have no competing interests.

Auteurs

Marlies Maly (M)

Department of Gastroenterology and Hepatology, Ghent University Hospital, 9000 Ghent, Belgium.
Department of Gastroenterology and Hepatology, AZ Sint-Jan, 8000 Bruges, Belgium.

Lieve Vanwalleghem (L)

Department of Pathology, AZ Sint-Jan, 8000 Bruges, Belgium.

Anja Van Den Eeckhaut (A)

Department of Nuclear Medicine, AZ Sint-Jan, 8000 Bruges, Belgium.

Vincent De Wilde (V)

Department of Gastroenterology and Hepatology, AZ Sint-Jan, 8000 Bruges, Belgium.

Classifications MeSH