scholarly journals Genomic Analysis of Posterior Fossa Meningioma Demonstrates Frequent AKT1 E17K Mutations in Foramen Magnum Meningiomas

2019 ◽  
Vol 80 (06) ◽  
pp. 562-567 ◽  
Author(s):  
Sally R. Williams ◽  
Tareq A. Juratli ◽  
Brandyn A. Castro ◽  
Tyler T. Lazaro ◽  
Corey M. Gill ◽  
...  

Objective Posterior fossa meningiomas are surgically challenging tumors that are associated with high morbidity and mortality. We sought to investigate the anatomical distribution of clinically actionable mutations in posterior fossa meningioma to facilitate identifying patients amenable for systemic targeted therapy trials. Methods Targeted sequencing of clinically targetable AKT1, SMO, and PIK3CA mutations was performed in 61 posterior fossa meningioma using Illumina NextSeq 500 to a target depth of >500 × . Samples were further interrogated for 53 cancer-relevant RNA fusions by the Archer FusionPlex panel to detect gene rearrangements. Results AKT1 (E17K) mutations were detected in five cases (8.2%), four in the foramen magnum and one in the cerebellopontine angle. In contrast, none of the posterior fossa tumors harbored an SMO (L412F) or a PIK3CA (E545K) mutation. Notably, the majority of foramen magnum meningiomas (4/7, 57%) harbored an AKT1 mutation. In addition, common clinically targetable gene fusions were not detected in any of the cases. Conclusion A large subset of foramen magnum meningiomas harbor AKT1 E17K mutations and are therefore potentially amenable to targeted medical therapy. Genotyping of foramen magnum meningiomas may enable more therapeutic alternatives and guide their treatment decision process.

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Antonio Jose Reyes ◽  
Kanterpersad Ramcharan ◽  
Maria Alvarez ◽  
Wesley Greaves ◽  
Fidel Rampersad

A 56–year-old Afro-Trinidadian woman with a history of a carbidopa-levodopa resistance Parkinsonian-like syndrome for 2 years, presented with acute onset spastic quadriplegia and decreased responsiveness. Diagnosis involved clinical and MR-imaging correlation consistent with a large left posterior fossa meningioma. Surgical removal of the tumor led to complete reversibility of the neurological manifestations associated with cerebellar tonsillar herniation beyond the foramen magnum and mass effect on the brainstem, cerebellum and midbrain regions. Pathological findings were typical of a meningioma. This case demonstrates the association of a large left posterior fossa meningioma and carbidopalevodopa resistant parkinsonism in an Afro-Trinidadian woman who presented with acute onset acute quadriplegia and decreased responsiveness. This case reminds clinicians that patients with dopa unresponsiveness and/or acute neurological deficit or deterioration should be worked up for other possible causes and adds to the literature on the association of parkinsonism and intracranial space occupying lesions.


Skull Base ◽  
2000 ◽  
Vol Volume 10 (Number 1) ◽  
pp. 0043-0046 ◽  
Author(s):  
Gregory S. Harrison ◽  
Peter Chovan ◽  
Joung H. Lee

2003 ◽  
Vol 16 (2) ◽  
pp. 299-305
Author(s):  
E. Puglielli ◽  
R. Galzio ◽  
A. Ricci ◽  
A. Splendiani ◽  
F. Iannessi ◽  
...  

We propose critical considerations on the usefulness of CT, MRI, and fMRI imaging fusion for the treatment of skull base lesions evaluating 41 cases (24 meningiomas: six petroclival, seven clinoidal, four olfactory, two in the foramen magnum, two spheno-petro-clival, one in the planum sphenoidale, one in the posterior pyramid and one in the PCA; five acoustic schwannomas, three epidermoids, two pituitary adenomas, two craniopharingiomas, two posterior fossa aneurysms, one trigeminal schwannoma, one dermoid and one juvenile angiofibroma). Data were collected, fused, integrated and reconstructed by a dedicated Stealth-Station system for Neuronavigation. CT images were acquired on axial non-overlapping slices, 1–3 mm thick; MRI images were obtained with a 1.5 T system, same FOV and thickness. During surgery the Mean Fiducially Error measured at 6 cm depth and anatomical distortion due to CSF loss was evaluated. Neuronavigation was possible in all cases and successfully applied in preoperative planning and during surgical procedures. The Mean Fiducially Error at 6 cm was 1.7 mm. CSF loss during surgery produced modifications on planned anatomy in a mean value of 0.6 mm. In all cases, imaging fusion for pre and intra-operative neuronavigation provided great advantages in the choice of the best approach, placing of bone flap, correct definition of tumour boundaries and meningeal implant, relationship with functional areas, early identification and real-time correction of the surgical route with respect of deep normal or distorted anatomic or pathologic structures and their eventual encasement or involvement by the pathologic primary process. Neuronavigation appeared ideal for skull base meningiomas making surgical manoeuvres safer, more effective and less invasive. In skull base lesions, CSF loss appeared not significant due to the fact that posterior fossa structures are strictly connected to each other and to the bone, thus are poorly affected by surgical deliquoration. We propose the possible extension of imaging fusion technique with the aim of optimizing the target in radiotherapy for intracranial tumours.


1992 ◽  
Vol 77 (6) ◽  
pp. 871-874 ◽  
Author(s):  
Thomas H. Milhorat ◽  
Walter D. Johnson ◽  
John I. Miller

✓ Syrinx shunts to the spinal subarachnoid space are likely to fail if the cerebrospinal fluid pathways rostral to the syrinx are blocked. To bypass obstructions at or below the level of the foramen magnum, a technique was developed for shunting the syrinx to the posterior fossa cisterns, termed “syringocisternostomy.” Syrinxes were shunted to the cisterna magna in two patients with spinal arachnoiditis and to the cerebellopontine angle cistern in four patients with Chiari I malformations. There was symptomatic improvement and collapse of the syrinx in each case, with no complications or recurrences over a follow-up interval of 14 to 27 months (average 20.3 months). The surgical technique and results of treatment are described.


Author(s):  
Carlos D. Pinheiro-Neto ◽  
Laura Salgado-Lopez ◽  
Luciano C.P.C. Leonel ◽  
Serdar O. Aydin ◽  
Maria Peris-Celda

Abstract Background Despite the use of vascularized intranasal flaps, endoscopic endonasal posterior fossa defects remain surgically challenging with high rates of postoperative cerebrospinal fluid leak. Objective The aim of the study is to describe a novel surgical technique that allows complete drilling of the clivus and exposure of the craniovertebral junction with preservation of the nasopharynx. Methods Two formalin-fixed latex-injected anatomical specimens were used to confirm feasibility of the technique. Two surgical approaches were used: sole endoscopic endonasal approach and transnasion approach. The sole endonasal approach was used in a patient with a petroclival meningioma. Results In both anatomical dissections, the inferior clivectomy with exposure of the foramen magnum was achieved with a sole endoscopic endonasal approach. The addition of the transnasion approach helped to complete drilling of the inferior border of the foramen magnum and exposure of the arch of C1. Conclusion This study shows the anatomical feasibility of total clivectomy and exposure of the craniovertebral junction with preservation of the nasopharynx. A more favorable anatomical posterior fossa defect for the reconstruction is achieved with this technique. Further clinical studies are needed to assess if this change would impact the postoperative CSF leak rate.


Author(s):  
Julio Pascual ◽  
Peter van den Berg

Cough headache exists in a primary and secondary form. The latter is due to tonsillar descent or, more rarely, to other space-occupying lesions in the posterior fossa/foramen magnum. Up to 40% of patients have an underlying structural lesion. Most patients with primary cough headache respond to indomethacin and suboccipital craniectomy with posterior fossa reconstruction can relieve cough headache in Chiari type I malformation.


2019 ◽  
Vol 12 (3) ◽  
pp. e228454
Author(s):  
Cristiano Antunes ◽  
Rui Ramos ◽  
Maria João Machado ◽  
Miguel Afonso Filipe

Posterior fossa lesions may present with behavioural changes and/or progressive neurological deficit. Patients may have symptoms for long periods which may be attributed to other causes such as psychiatric diseases. We report a case of a 44-year-old woman with behavioural changes lasting for 5 years who lost her job, marriage and the guard of her sons. Latterly, she developed neurological deficit, hydrocephalus and intracranial hypertension. A giant left pontocerebellar angle mass was diagnosed. A retrosigmoid craniotomy was performed with total removal and cranial nerve function’s preservation. Histology revealed a grade I meningioma. The surgical approach for such huge lesions on pontocerebellar angle is controversial concerning patient’s positioning and surgical route. A brief revision is made. Since nowadays medical imaging is more easily accessible, it is mandatory to have a brain image in patients with behavioural changes and/or neurological deficit to exclude potential structural and curable causes such as in this case.


2018 ◽  
Vol 16 (5) ◽  
pp. E154-E158
Author(s):  
Lynze R Franko ◽  
Balaji Pandian ◽  
Avneesh Gupta ◽  
Luis E Savastano ◽  
Kevin S Chen ◽  
...  

Abstract BACKGROUND AND IMPORTANCE Neurocysticercosis (NCC) is an infectious helminthic disease often presenting in patients who have immigration or travel history from areas where NCC is endemic. Fourth ventricle cysts from NCC pose a unique treatment challenge, as there is little consensus on the best treatment. This case study describes the treatment of a patient with fourth ventricle neurocysticercosis (FVNCC), examines the therapeutic decision-making, and provides a video of a posterior fossa craniotomy (PFC) resection of a degenerative cyst. CLINICAL PRESENTATION The patient presented with headache, dizziness, nausea, and memory difficulties. A fourth ventricle cyst consistent with NCC was found on magnetic resonance imaging, and serum enzyme-linked immunosorbent assay (ELISA) confirmed the diagnosis. The cyst was removed utilizing an open PFC followed by antihelminthic therapy and corticosteroids. There was resolution of symptoms at 9 mo postoperatively. CONCLUSION Several treatment modalities have been proposed for isolated cysts in the fourth ventricle, including medication, ventriculoperitoneal shunt, endoscopic removal, and PFC. The treatment decision is complex, and there is little guidance on the best treatment choices. In this article, we describe treatment via PFC for an adherent FVNCC cyst.


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