Genomic sequencing of a pregnancy associated symptomatic meningioma of the diaphragma sellae: a case report

Br J Neurosurg. 2022 Jan 8:1-5. doi: 10.1080/02688697.2021.2024503. Online ahead of print.


Pregnancy-associated meningiomas have unique considerations and features regarding their pathophysiology, location, genetic profile, and neurosurgical management. These tumours have been reported to undergo rapid growth during gestation and regression post-partum, implicating a role for female sex hormones in tumour physiology. In addition, these tumours occur at a higher incidence in the skull base compared to sporadic meningiomas in the general population, often impinging neurovascular structures and requiring emergent resection. While the genomics of sporadic meningiomas have been described, there are no reports characterizing the genetic features of those associated with pregnancy. Here we describe a patient diagnosed with a diphragma sellae meningioma early in the third trimester after presenting with rapidly deteriorating vision. At 32 weeks gestation the baby was delivered by caesarean section and the tumour subsequently removed. Genomic profiling of the tumour sample revealed variants of unknown significant (VUS) in six genes, none of which were in canonical meningioma drivers. We describe our surgical approach and discuss the relevant pathology and genomics, as well as medical and surgical management considerations of meningiomas in pregnancy.

Keywords: Meningioma; diphragma sellae; genomics; pregnancy.