Neurofibromatoses in Clinical Practice

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Tony Attwood. Sue Gerhardt. Dennis Greenberger. Lara V.

A Discussion of ACMG Clinical Practice Resource Related to Tumors Associated with NF1

Philip N. Pia Mellody. Anne Unkenstein. Helen Thomson. Adolfo Bronstein. Max Lugavere. Jean-Marie Saudubray. Dr Gary Small.

Hans H. Jean-Michel Vallat. Bestselling Series. Harry Potter. Popular Features. New Releases. Gareth R. Free delivery worldwide. Description Neurofibromatoses in Clinical Practice provides a succinct, accessible guide to the neurofibromatoses including diagnosis, management protocols and indications for referral to specialist centers.

General Information

Neurocutaneous diseases are complex to diagnose and treat and many patients require specialist multidisciplinary management and surveillance. Due to multiple disease manifestations, patients can present to different clinicians without specialist expertise - general practitioners, pediatricians, neurologists, geneticists, surgeons and ophthalmologists. The clinically focused format will enable rapid consultation during clinics, facilitate disease pattern recognition, and indicate care pathways. The clinical quiz highlights common pitfalls in diagnosis and management and a glossary and reference section provide details for access to specialist NF clinics throughout the UK and internationally.

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CNS Tumors in Neurofibromatosis | Journal of Clinical Oncology

Rest Alex Soojung-Kim Pang. Until recently, there were no promising medical therapies for VSs, limiting the management of these tumors to surgery or radiosurgery. Over the past several years, numerous molecularly targeted treatments have emerged Table 2. Table 2. Meningiomas are the second most common tumor encountered in individuals with NF2. Intracranial meningiomas tend to be multiple in number and often develop at a younger age than do their sporadic counterparts.

Clinical symptoms from meningiomas are usually related to their size and anatomic location. Although most meningiomas can be safely and fully resected, surgical resection of meningiomas involving the optic nerve sheath and skull base is associated with significant neurologic morbidity. The majority of NF2-associated ependymomas are contrast-enhancing tumors Fig 2C.

Clinical symptoms of spinal cord ependymomas are variable and depend on the size and anatomic location of the tumor. In contrast to sporadic tumors, the majority of NF2-associated spinal tumors are asymptomatic.

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The management of NF2-associated ependymomas has not been firmly established. Although observation is often used to follow asymptomatic tumors, surgical resections are frequently effective and curative in patients with NF2-associated symptomatic spinal cord ependymomas.

The timing of the resection is best determined by detailed neurologic surveillance to assess for early onset of symptoms. WHO grade I myxopapillary ependymoma has also been reported in patients with NF2, and these tumors are usually treated with surgery. For this reason, chemotherapeutic options for the treatment of recurrent and unresectable tumors are desirable. The evaluation of molecularly targeted therapies for these tumors is currently ongoing.

Bevacizumab treatment improved symptoms related to NF2-associated ependymomas. NF1 is caused by a germline mutation in the NF1 gene located on chromosome Fig 3. B The NF2 gene encodes a amino acid protein with striking sequence similarity to molecules of the protein 4. Molecularly targeted therapies that inhibit specific signaling intermediates and receptor tyrosine kinases have been evaluated in preclinical and clinical trials. The NF2 tumor suppressor gene is located on chromosome 22q, and its protein schwannomin or merlin bears striking sequence similarity to a family of structural linker proteins, termed Protein 4.

While NF2-associated tumors lack merlin expression, the mechanism of merlin growth suppression has not been completely elucidated. Currently, there are two major barriers that limit progress in the field of NF developmental therapeutics. First, some NF-associated brain tumors eg, optic pathway and BSGs, spinal ependymomas are rarely biopsied or surgically removed. Other genomic landscaping efforts focused on brain tumors in NF2 are also in progress. Second, unlike high-grade malignancies, it has been challenging to maintain NF-associated tumors as patient-derived xenografts PDXs.

To date, successful orthotopic transplant models have only been developed for NF2-associated meningioma. In the absence of tractable preclinical PDX models, preclinical researchers have turned to the use of genetically engineered mouse strains.

New Guidelines for the Care of Adults with NF1

Several high-grade glioma models have been established by coupling complete Nf1 gene inactivation with loss of other tumor suppressor genes eg, p53, PTEN. Similar to children with NF1, Nf1 optic gliomagenesis in mice requires a combination of a germline inactivating Nf1 gene mutation and somatic Nf1 loss in neuroglial progenitor cells. First, optic gliomagenesis requires a productive interaction between neoplastic tumor cells and non-neoplastic immune system—like cells microglia in the glioma microenvironment.

Although no models of NF2-associated ependymoma have been generated to date, Nf2 genetically engineered mouse strains with meningioma and schwannoma have been developed. With the availability of an efficient Neurofibromatosis Clinical Trials Consortium 85 and numerous authenticated preclinical models of NF-associated brain tumors, it now becomes possible to identify molecular targets and evaluate their efficacy in mice prior to human clinical trials.