@Article{Castanheira2026,
journal="Contemporary Oncology/Współczesna Onkologia",
issn="1428-2526",
year="2026",
title="Looking for personalised treatments in chordoma: benefit of olaparib in a BRCA2-mutated patient",
abstract="         Chordoma is a rare malignant bone tumour, most frequently arising in the sacrum, with a high risk of local recurrence and limited systemic treatment options in advanced disease. Alterations affecting DNA damage repair pathways have been described in a small subset of patients, although their therapeutic relevance remains uncertain. A 63-year-old man with sacral chordoma underwent surgical resection followed by adjuvant radiotherapy because of a positive surgical margin. After 33 months of surveillance, positron emission tomography revealed metastatic disease involving the abdomen, scalp and multiple bones. Treatment with imatinib 400 mg once daily led to stable disease as the best response but was followed by disease progression after 11 months. Tumour sequencing identified a pathogenic BRCA2 mutation, subsequently confirmed to be of germline origin. In the absence of established systemic alternatives, off-label treatment with the PARP inhibitor olaparib 300 mg twice daily was initiated. Stable disease was the best overall response to olaparib, with good tolerability maintained for 38 months. During treatment, three episodes of oligoprogression were successfully managed with local therapies, including palliative radiotherapy for symptomatic bone lesions and surgical excision of a cutaneous metastasis, allowing continuation of systemic treatment. This case highlights the potential value of genomic profiling in advanced chordoma and suggests that selected patients harbouring BRCA2 alterations may derive clinically meaningful benefit from PARP inhibition. Further studies are needed to clarify the roles of alterations in DNA repair pathways and PARP inhibitors in this rare disease.     ",
author="Castanheira, Beatriz
and Soldin, Inęs
and Moreira, Augusto
and Conde, Sofia
and Rodrigues, Patrícia
and Abreu, Miguel",
doi="10.5114/wo.2026.165741",
url="http://dx.doi.org/10.5114/wo.2026.165741"
}