Wednesday, November 23, 2016

Germline and somatic BAP1 mutations in high-grade rhabdoid meningiomas

Ganesh Shankar of Brigham and Women's Hospital and colleagues recently published an article in Neuro-Oncology entitled Germline and somatic BAP1 mutations in high-grade rhabdoid meningiomas. Rhabdoid meningiomas are designated in the World Health Organization Classification of Tumours as high grade, despite the fact that only a subset follow an aggressive clinical course. To define genomic aberrations of rhabdoid meningiomas, the authors performed sequencing of cancer-related genes in 27 meningiomas from 18 patients with rhabdoid features and evaluated breast cancer [BRCA]1–associated protein 1 (BAP1) expression by immunohistochemistry in 336 meningiomas. The tumor suppressor gene BAP1 is inactivated in a subset of high-grade rhabdoid meningiomas. Patients with BAP1-negative rhabdoid meningiomas had reduced time to recurrence compared with patients with BAP1-retained rhabdoid meningiomas. A subset of patients with BAP1-deficient rhabdoid meningiomas harbored germline BAP1 mutations, indicating that rhabdoid meningiomas can be a harbinger of the BAP1 cancer predisposition syndrome. The authors conclude that BAP1-mutated rhabdoid meningiomas are clinically aggressive, requiring intensive clinical management.

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