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CASE REPORT article
Front. Oncol.
Sec. Neuro-Oncology and Neurosurgical Oncology
Volume 14 - 2024 |
doi: 10.3389/fonc.2024.1483126
Clonal evolution analysis of a rare case of meningioma lung metastases identifies actionable alterations in matched longitudinal tumour samples
Provisionally accepted- 1 Royal College of Surgeons in Ireland, Dublin, County Dublin, Ireland
- 2 Beaumont Hospital, Dublin, Ireland
Metastatic meningioma is rare occurring in less than 1% of patients and very few case studies have been reported, in particular for those that have spread to the lung. Here we describe a rare case of metastatic meningioma to the lung. Following discussion at a medical oncology multi-disciplinary team meeting, whole genome sequencing was requested in November 2021 and discussed at a neurosurgical molecular tumour board in June 2022. Sequencing was performed on matched longitudinal collected samples of the primary tumour resection; the re-excised recurrent tumour after adjuvant radiation therapy; the lung metastases before treatment with Sunitinib and one paired blood sample for tumour-normal analysis.Whole genome characterisation and clonal evolution analysis confirmed NF2 gene loss as the main driver of this cancer. In the same cancer clone as NF2, we identified a BRCA2 (p.E51K) mutation present in all tumours, which may represent a potential driver event, though evidence supporting this is currently limited.Although this mutation is predicted to potentially influence homologous recombination, its clinical relevance as a biomarker for PARP inhibition remains speculative and requires further investigation. We also noted a SETD2 (p.S1885N) mutation that was present only in the recurrence which was identified as a predicted biomarker of response to WEE1 inhibition. There was a stepwise increase in tumour mutational burden (TMB) from the primary meningioma to lung metastases, suggesting this patient may have been a candidate for immunotherapy.
Keywords: Meningioma, Lung metastases, Whole genome sequecning, targeted therapies, driver mutations
Received: 19 Aug 2024; Accepted: 22 Nov 2024.
Copyright: © 2024 Cosgrove, Fitzpatrick, Grogan, Hennessy, Furney and Toomey. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Simon J Furney, Royal College of Surgeons in Ireland, Dublin, Dublin 2, County Dublin, Ireland
Sinead Toomey, Royal College of Surgeons in Ireland, Dublin, Dublin 2, County Dublin, Ireland
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