Case report: Clonal evolution analysis of a rare case of meningioma lung metastases identifies actionable alterations in matched longitudinal tumour samples
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 lungs. Here we describe a rare case of metastatic meningioma to the lungs. Following a discussion at a medical oncology multi-disciplina...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2024.1483126/full |
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| author | Nicola Cosgrove Orla M. Fitzpatrick Orla M. Fitzpatrick Liam Grogan Liam Grogan Bryan T. Hennessy Bryan T. Hennessy Simon J. Furney Sinead Toomey |
| author_facet | Nicola Cosgrove Orla M. Fitzpatrick Orla M. Fitzpatrick Liam Grogan Liam Grogan Bryan T. Hennessy Bryan T. Hennessy Simon J. Furney Sinead Toomey |
| author_sort | Nicola Cosgrove |
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| description | 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 lungs. Here we describe a rare case of metastatic meningioma to the lungs. Following a discussion at a medical oncology multi-disciplinary team meeting, whole genome sequencing was requested in November 2021 and discussed at a neurosurgical molecular tumor board in June 2022. Sequencing was performed on matched longitudinal collected samples of the primary tumor resection, the re-excised recurrent tumor after adjuvant radiation therapy, the lung metastases before treatment with sunitinib, and one paired blood sample for tumor-normal analysis. Whole genome characterization and clonal evolution analysis confirmed neurofibromatosis 2 (NF2) gene loss as the main driver of this cancer. In the same cancer clone as NF2, we identified a BRCA2 (p.E51K) mutation was present in all tumors, 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 recurrent tumor which was identified as a predicted biomarker of response to WEE1 inhibition. There was a stepwise increase in tumor mutational burden (TMB) from the primary meningioma to lung metastases, suggesting this patient may have been a candidate for immunotherapy. |
| format | Article |
| id | doaj-art-316bea193f3d411eaf1d6f06b234ec3b |
| institution | Kabale University |
| issn | 2234-943X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj-art-316bea193f3d411eaf1d6f06b234ec3b2025-01-28T06:40:54ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2025-01-011410.3389/fonc.2024.14831261483126Case report: Clonal evolution analysis of a rare case of meningioma lung metastases identifies actionable alterations in matched longitudinal tumour samplesNicola Cosgrove0Orla M. Fitzpatrick1Orla M. Fitzpatrick2Liam Grogan3Liam Grogan4Bryan T. Hennessy5Bryan T. Hennessy6Simon J. Furney7Sinead Toomey8Genomic Oncology Research Group, Department of Physiology and Medical Physics, RCSI University of Medicine and Health Sciences, Dublin, IrelandDepartment of Medical Oncology, Beaumont Hospital, Dublin, IrelandCancer Clinical Trials and Research Unit, Beaumont Hospital, Dublin, IrelandDepartment of Medical Oncology, Beaumont Hospital, Dublin, IrelandCancer Clinical Trials and Research Unit, Beaumont Hospital, Dublin, IrelandDepartment of Medical Oncology, Beaumont Hospital, Dublin, IrelandMedical Oncology Group, Department of Medicine, RCSI University of Medicine and Health Sciences, Dublin, IrelandGenomic Oncology Research Group, Department of Physiology and Medical Physics, RCSI University of Medicine and Health Sciences, Dublin, IrelandMedical Oncology Group, Department of Medicine, RCSI University of Medicine and Health Sciences, Dublin, IrelandMetastatic 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 lungs. Here we describe a rare case of metastatic meningioma to the lungs. Following a discussion at a medical oncology multi-disciplinary team meeting, whole genome sequencing was requested in November 2021 and discussed at a neurosurgical molecular tumor board in June 2022. Sequencing was performed on matched longitudinal collected samples of the primary tumor resection, the re-excised recurrent tumor after adjuvant radiation therapy, the lung metastases before treatment with sunitinib, and one paired blood sample for tumor-normal analysis. Whole genome characterization and clonal evolution analysis confirmed neurofibromatosis 2 (NF2) gene loss as the main driver of this cancer. In the same cancer clone as NF2, we identified a BRCA2 (p.E51K) mutation was present in all tumors, 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 recurrent tumor which was identified as a predicted biomarker of response to WEE1 inhibition. There was a stepwise increase in tumor mutational burden (TMB) from the primary meningioma to lung metastases, suggesting this patient may have been a candidate for immunotherapy.https://www.frontiersin.org/articles/10.3389/fonc.2024.1483126/fullmeningiomalung metastaseswhole genome sequencingtargeted therapiesdriver mutations |
| spellingShingle | Nicola Cosgrove Orla M. Fitzpatrick Orla M. Fitzpatrick Liam Grogan Liam Grogan Bryan T. Hennessy Bryan T. Hennessy Simon J. Furney Sinead Toomey Case report: Clonal evolution analysis of a rare case of meningioma lung metastases identifies actionable alterations in matched longitudinal tumour samples Frontiers in Oncology meningioma lung metastases whole genome sequencing targeted therapies driver mutations |
| title | Case report: Clonal evolution analysis of a rare case of meningioma lung metastases identifies actionable alterations in matched longitudinal tumour samples |
| title_full | Case report: Clonal evolution analysis of a rare case of meningioma lung metastases identifies actionable alterations in matched longitudinal tumour samples |
| title_fullStr | Case report: Clonal evolution analysis of a rare case of meningioma lung metastases identifies actionable alterations in matched longitudinal tumour samples |
| title_full_unstemmed | Case report: Clonal evolution analysis of a rare case of meningioma lung metastases identifies actionable alterations in matched longitudinal tumour samples |
| title_short | Case report: Clonal evolution analysis of a rare case of meningioma lung metastases identifies actionable alterations in matched longitudinal tumour samples |
| title_sort | case report clonal evolution analysis of a rare case of meningioma lung metastases identifies actionable alterations in matched longitudinal tumour samples |
| topic | meningioma lung metastases whole genome sequencing targeted therapies driver mutations |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2024.1483126/full |
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