Somatic SMARCB1 Mutation in Sporadic Multiple Meningiomas: Case Report.

Alice S Wang,Ronald Kim,Daniela Bota,Frank P K Hsu,Nathan Oh,Ronald Sahyouni,Behdokht Nowroozizadeh,Ali O Jamshidi

doi:10.3389/fneur.2018.00919

Alice S Wang, Ronald Kim + Show 6 more

Open Access

https://doi.org/10.3389/fneur.2018.00919

Copy DOI

Abstract

Background: Multiple intracranial meningiomas account for <10% of all meningiomas. Familial multiple meningiomas have been linked to germline mutations in two genes: neurofibromatosis type 2 (NF2) and SWIch/Sucrose Non-Fermentable (SWI/SNF)-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1). Sporadic multiple meningiomas have been associated with somatic NF2 mutations and, to date, there has been no case related to somatic SMARCB1 mutations. Here, we describe the first case.Case Report: A 45-year-old female suffered a head trauma while snowboarding. Subsequent to her injury, she experienced persistent headache, nausea, vomiting, dizziness, and flashing lights in the right eye. Magnetic resonance imaging (MRI) of her brain revealed multiple intracranial meningiomas. She underwent a two-staged craniotomy to remove frontal/parietal/temporal and occipital extra-axial tumors. Pathology confirmed the masses as meningiomas, WHO Grade I. Tumor genetic testing was positive for SMARCB1 mutation but blood genetic testing was negative for SMARCB1 mutation.Conclusion: In sporadic multiple meningiomas, somatic NF2 mutations are usually the suspected genetic alternations. Our case illustrates that somatic SMARCB1 mutation is another genetic risk factor for sporadic multiple meningiomas, albeit rare.

Highlights

The phenomenon of multiple meningiomas is rare, accounting for
A specimen from the left occipital mass was sent to pathology which classified it as meningioma, World Health Organization (WHO) Grade I with a Ki-67 of 2–3% (Figure 4)
Neurofibromatosis type 2 disease harbors mutations in the neurofibromatosis type 2 (NF2) gene, which are well-known risk factors associated with familial multiple meningiomas and sporadic multiple meningiomas [3, 4, 8]

Summary

Background

Familial multiple meningiomas have been linked to germline mutations in two genes: neurofibromatosis type 2 (NF2) and SWIch/Sucrose Non-Fermentable (SWI/SNF)-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1). Sporadic multiple meningiomas have been associated with somatic NF2 mutations and, to date, there has been no case related to somatic SMARCB1 mutations. Case Report: A 45-year-old female suffered a head trauma while snowboarding. Subsequent to her injury, she experienced persistent headache, nausea, vomiting, dizziness, and flashing lights in the right eye. Magnetic resonance imaging (MRI) of her brain revealed multiple intracranial meningiomas. She underwent a two-staged craniotomy to remove frontal/parietal/temporal and occipital extra-axial tumors. Tumor genetic testing was positive for SMARCB1 mutation but blood genetic testing was negative for SMARCB1 mutation

Conclusion

INTRODUCTION

DISCUSSION

Findings

CONCLUSION

ETHICS STATEMENT