Genomic sequencing of a pregnancy associated symptomatic meningioma of the diaphragma sellae: a case report.
Document Type
Article
Publication Date
12-1-2024
Original Citation
Leclair N,
Lambert W,
Wu Q,
Wolansky L,
Becker K,
Li L,
Leishangthem L,
Bulsara K.
Genomic sequencing of a pregnancy associated symptomatic meningioma of the diaphragma sellae: a case report. Br J Neurosurg. 2024;38(6):1417-21.
Keywords
JGM, Humans, Female, Meningioma, Pregnancy, Meningeal Neoplasms, Pregnancy Complications, Neoplastic, Adult, Cesarean Section, Sella Turcica, Genomics
JAX Source
Br J Neurosurg. 2024;38(6):1417-21.
ISSN
1360-046X
PMID
35001774
DOI
https://doi.org/10.1080/02688697.2021.2024503
Abstract
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.