Bilateral cerebellopontine angle lipomas in an infant with encephalocele: illustrative case.

BACKGROUND: Bilateral cerebellopontine angle (CPA) lipomas are extremely rare. Herein the authors present a case of bilateral CPA lipomas in an infant along with a literature review of bilateral CPA lipomas. OBSERVATIONS: A newborn girl was incidentally found to have bilateral CPA lipomas during the workup for an occipital encephalocele. The encephalocele was repaired primarily on day 2 after birth. The patient demonstrated no symptoms associated with the bilateral CPA lipomas. Eight cases of bilateral CPA lipomas were identified in the literature review and are summarized. Conservative management is the consensus strategy, given minimum growth of the tumor and the high risk of surgical intervention. LESSONS: This is the first reported case of bilateral CPA lipomas in an infant as well as the first with a coexisting intracranial malformation. Intracranial lipomas share an extremely low growth rate and typically do not cause severe symptoms. The management of asymptomatic or mildly symptomatic bilateral CPA lipomas is usually conservative.

The evolution of stereoelectroencephalography: symbiotic progress in medical imaging and procedural technologies.

Stereoelectroencephalography (sEEG) was pioneered in France, at a time when cerebral anatomy was invisible to contemporaneous imaging modalities. Epilepsy surgeons relied on indirect targeting techniques to identify epileptogenic tissue. Since then, alongside the rapid rise of medical imaging technology, sEEG has experienced dramatic stepwise progress. A flurry of advancements has pushed this technique to its current-day standards, enabling neurosurgeons to access any intracranial location in a safe, highly precise, and expeditious manner. Presently, epilepsy surgeons throughout the world apply robot-assisted sEEG. Herein, the authors chronicle this incredible evolution.

Open Surgical Approaches for Meningiomas.

Meningiomas are the most common intracranial extra-axial primary tumor. Although most are low grade and slow growing, resection can be technically challenging, particularly when located at the skull base. Appropriate craniotomy and approach selection are of paramount importance to minimize brain retraction, optimize exposure, and achieve complete resection. This article summarizes various craniotomies and their approaches to meningiomas, and illustrates some nuances in performing these techniques with cadaveric dissection and operative videos.

Specific gene expression signatures of low grade meningiomas.

Introduction: Meningiomas are the most common primary central nervous system (CNS) tumors in adults, representing approximately one-third of all primary adult CNS tumors. Although several recent publications have proposed alternative grading systems of meningiomas that incorporate genomic and/or epigenomic data to better predict meningioma recurrence and progression-free survival, our understanding of driving forces of meningioma development is still limited. Objective: To define gene expression signatures of the most common subtypes of meningiomas to better understand cellular processes and signaling pathways specific for each tumor genotype. Methods: We used RNA sequencing (RNA-seq) to determine whole transcriptome profiles of twenty meningiomas with genomic alterations including NF2 inactivation, loss of chr1p, and missense mutations in TRAF7, AKT1 and KLF4. Results: The analysis revealed that meningiomas with NF2 gene inactivation expressed higher levels of BCL2 and GLI1 compared with tumors harboring TRAF7 missense mutations. Moreover, NF2 meningiomas were subdivided into two distinct groups based on additional loss of chr1p. NF2 tumors with intact chr1p were characterized by the high expression of tumor suppressor PTCH2 compared to NF2 tumors with chr1p loss. Taken together with the high expression of BCL2 and GLI1, these results suggest that activation of Sonic Hedgehog pathway may contribute to NF2 meningioma development. In contrast, NF2 tumors with chr1p loss expressed high levels of transcription factor FOXD3 and its antisense RNA FOXD3-AS1. Examination of TRAF7 tumors demonstrated that TRAF7 regulates a number of biomechanically responsive genes (KRT6a, KRT16, IL1RL1, and AQP3 among others). Interestingly, AKT1 and KLF4 meningiomas expressed genes specific for PI3K/AKT signaling pathway, suggesting overlapping gene signatures between the two subtypes. In addition, KLF4 meningiomas had high expression of carcinoembryonic antigen family members CEACAM6 and CEACAM5. Conclusions: Each group of meningiomas displayed a unique gene expression signature suggesting signaling pathways potentially implicated in tumorigenesis. These findings will improve our understanding of meningioma tumorigenesis and prognosis.