Faculty Bibliography

PURPOSE: Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder associated primarily with bilateral schwannomas seen on the superior vestibular branches of the eighth cranial nerves. Significant morbidity can result from surgical treatment of these tumors. Meningiomas, ependymomas, and other benign central nervous system tumors are also common in NF2. The lack of effective treatments for NF2 marks an unmet medical need. EXPERIMENTAL DESIGN: Here, we provide recommendations from a workshop, cochaired by Drs. D. Gareth Evans and Marco Giovannini, of 36 international researchers, physicians, representatives of the biotechnology industry, and patient advocates on how to accelerate progress toward NF2 clinical trials. RESULTS: Workshop participants reached a consensus that, based on current knowledge, the time is right to plan and implement NF2 clinical trials. Obstacles impeding NF2 clinical trials and how to address them were discussed, as well as the candidate therapeutic pipeline for NF2. CONCLUSIONS: Both phase 0 and phase II NF2 trials are near-term options for NF2 clinical trials. The number of NF2 patients in the population remains limited, and successful recruitment will require ongoing collaboration efforts between NF2 clinics

We present a case of synchronous involvement of the pineal and suprasellar regions by a mixed germ cell tumor comprising germinoma and yolk sac tumor components, with a predominant angiomatous component. To our knowledge, it is the first case of this nature to be reported in the literature. Usually, synchronous lesions of this kind are pure germinomas, and some clinicians will forgo a biopsy and assume a germinoma histology if the serum beta-human chorionic gonadotrophin (HCG) is <50 IU/l and the alpha-fetoprotein (AFP) is within normal limits. Secondly, if a biopsy is performed on a lesion that has a prominent angiomatous component, the diagnostic germ cell tumor may be missed at the time of the biopsy. In order to alert clinicians and pathologists to this rare entity, the case is discussed with particular reference to difficulties that were encountered in rendering an accurate diagnosis, and the associated management implications

Over the past decades considerable advances have been made in neurosurgery, radiotherapy and chemotherapy resulting in improved survival and cure rates for children with brain tumors. Here we review four of the most common subtypes of pediatric brain tumors, low-grade and high-grade astrocytomas, medulloblastomas and ependymomas, highlighting their molecular features regarding their tumor biology, and promising potential therapeutic targets that may hold promise for finding new 'molecular targeted' drugs. Importantly, appropriate clinical trial design will play a critical role in the evaluation of new and novel treatment approaches for pediatric brain tumors