A challenging case of sporadic melanocytoma of the jugular foramen.

BACKGROUND: The jugular foramen (JF) can be the site of several tumours. Paragangliomas, schwannomas and meningiomas are the most commonly reported. We describe a case of melanocytoma originating from the JF and presenting with an accessory nerve palsy. ILLUSTRATIVE CASE: A 48-year-old woman presented with a 6-month history of cervical and left shoulder pain with wasting and weakness of the left trapezius. A Magnetic Resonance Imaging (MRI) showed a T1-hyperintense, T2-isointense, heterogeneously enhancing lesion involving the left JF and extending into the cerebello-medullary and cerebello-pontine cisterns. A retrosigmoid craniotomy was performed and a near-total removal achieved. The accessory nerve was involved by tumour and could not be preserved. Given the diagnostic uncertainty between melanotic schwannoma, metastatic melanoma and meningeal melanocytoma, next generation sequencing and genome-wide DNA methylation arrays were performed, documenting a mutation in GNA11 (c.6226A>T, p. Gln209Leu) and a methylation profile consistent with melanocytoma. The patient underwent adjuvant fractionated radiotherapy of the tumour remnant. A follow-up MRI 4 years after surgery did not show any tumour recurrence. CONCLUSIONS: The differential diagnosis of skull base pigmented tumours can be challenging, particularly when they occur in unusual locations such as the JF. They can be misdiagnosed given their similar clinical, neuroradiological and pathological features if anatomy of the site of origin is not carefully considered and molecular tests are not performed, leading to erroneous treatment and follow-up planning.

Imaging and target volume delineation in glioma.

Here we review current practices in target volume delineation for radical radiotherapy planning for gliomas. Current radiotherapy planning margins for glioma are informed by historic data of recurrence patterns using radiological imaging or post-mortem studies. Radiotherapy planning for World Health Organization grade II-IV gliomas currently relies predominantly on T1-weighted contrast-enhanced magnetic resonance imaging (MRI) and T2/fluid-attenuated inversion recovery sequences to identify the gross tumour volume (GTV). Isotropic margins are added empirically for each tumour type, usually without any patient-specific individualisation. We discuss novel imaging techniques that have the potential to influence radiotherapy planning, by improving definition of the tumour extent and its routes of invasion, thus modifying the GTV and allowing anisotropic expansion to a clinical target volume better reflecting areas at risk of recurrence. Identifying the relationships of tumour boundaries to important white matter pathways and eloquent areas of cerebral cortex could lead to reduced normal tissue complications. Novel magnetic resonance approaches to identify tumour extent and invasion include: (i) diffusion-weighted magnetic resonance metrics; (ii) diffusion tensor imaging; and (iii) positron emission tomography, using radiolabelled amino acids methyl-11C-L-methionine and 18F-fluoroethyltyrosine. Novel imaging techniques may also have a role together with clinical characteristics and molecular genetic markers in predicting response to therapy. Most significant among these techniques is dynamic contrast-enhanced MRI, which uses dynamic acquisition of images after injection of intravenous contrast. A number of studies have identified changes in diffusion and microvascular characteristics occurring during the early stages of radiotherapy as powerful predictive biomarkers of outcome.