Patient: 54 years – Female diagnosed with Recurrent Metastatic Ovarian Adenocarcinoma
Clinical Testing:
- Alterations: P278T, G509R, E337*, Fusion
- Gene: TP53, BRAF, NF1, CAD-ALK
Treatment Options: Co-occurring mutations in BRAF and NF1 could potentially be targetable through MEK inhibitors although evidential data is lacking. Multikinase inhibitors like Pazopanib or Lenvatinib could potentially also be used in neo-adjuvant settings.
Indication: This is a heavily pre-treated case of metastatic ovarian cancer currently presenting with interval progression and bone metastases.
Research Findings: The tumor has pathogenic mutations TP53, NF1 and BRAF genes along with a pathogenic fusion in ALK (CAD-ALK). The mutations in NF1 and TP53 are likely of germline origin and may indicate progressive disease course. The BRAF mutation (G509R also known as G469R) is classified as Class II BRAF mutation which classically does not respond to BRAF inhibitor drugs like Dabrafenib.