Whole exome sequencing in a case of sporadic multiple meningiomas

Meningiomas are common intracraneal tumors derived from the arachnoid cells. Occasionally, multiple meningiomas are present even in patients with no history of Neurofibromatosis type 2 -a condition that can cause the formation of this neoplasm-. Previous studies have shown that monoclonal is the most probable origin of multiple meningiomas. In this study, exome sequencing was performed in four meningioma and the corresponding peripheral blood DNA from a 61 years old female suffering from sporadic multiple meningioma. This patient had no other tumors or symptoms suggesting other clinical condition apart from sporadic multiple meningioma case. At least 3 common mutational events (at NF2, FAM109B and TPRXL genes) were detected in the tumors’ DNA when they were compared to the control tissue. Additionally, an array of unique mutations was detected in each tumor, including SMARCB1 in two of the samples, a gene whose alteration leads to the development of meningioma and schwannoma. Moreover, other genes such as IRS4, GULP1, NHSL1 or C10orf53, accounted for one alteration in each sample. Our data suggests a monoclonal origin of the meningiomas in this patient, although the numerous alterations contained in each tumor denoted multiple secondary variable changes in each tumor nodule. Whether the alterations described in this work are driver of tumorgenesis or simply passenger, requires further study.