Mother and daughter with a SMARCE1 mutation resulting in a cervical clear cell meningioma at an identical location: illustrative cases

Valérie N E Schuermans; Ank van de Goor; Martinus P G Broen; Toon F M Boselie

doi:10.3171/CASE22466

Mother and daughter with a SMARCE1 mutation resulting in a cervical clear cell meningioma at an identical location: illustrative cases

J Neurosurg Case Lessons. 2023 Jan 2;5(1):CASE22466. doi: 10.3171/CASE22466. Print 2023 Jan 2.

Authors

Valérie N E Schuermans^{1

2

3}, Ank van de Goor^{2

4}, Martinus P G Broen^{5

6}, Toon F M Boselie^{1

2

3}

Affiliations

¹ 1Department of Neurosurgery, Zuyderland Medical Center, Heerlen, The Netherlands.
² Departments of2Neurosurgery and.
³ 3CAPHRI Care and Public Health Research Institute, Maastricht University, Maastricht, The Netherlands.
⁴ 4Maastricht University, Maastricht, The Netherlands; and.
⁵ 5Neurology, Maastricht University Medical Center, Maastricht, The Netherlands.
⁶ 6GROW, Schoolfor Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.

Abstract

Background: A rare meningioma subtype is a clear cell (CC) meningioma, which can be associated with a SMARCE1 gene mutation. Manifestation of a CC meningioma in the cervical spine is unusual. In the current case, both mother and daughter present with a CC meningioma at an identical cervical location.

Observations: A 67-year-old patient with an intradural extramedullary mass at the level of C5 presented with progressive myelopathy. The mass was resected through a ventral approach by a two-level corpectomy with an expandable cage and instrumentation. The daughter of this patient appeared to have had an intradural extramedullary mass at C5 at the age of 20, which was resected through a posterior approach. Pathological investigation of both tumors revealed CC meningioma. Genetic testing of the daughter revealed a SMARCE1 mutation.

Lessons: It is of major importance to consider a SMARCE1 mutation in elderly presenting with a CC meningioma, which is still uncommon in current practice. This could lead to timely diagnostics in the succeeding generation. Complete resection of a CC meningioma is important because of the high recurrence rate. Routine follow-up should therefore be performed in the postoperative period. An anterior approach should be considered for a ventral cervical CC meningioma.

Keywords: cervical spine; clear cell meningioma; genetics; meningioma; spinal tumors.