Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.

Background: Endolymphatic sac tumors (ELSTs) are, with a prevalence of up to 16%, a component of von Hippel-Lindau (VHL) disease. Data from international registries regarding heritable fraction and characteristics, germline VHL mutation frequency, and prevalence are lacking.

Methods: Systematic registration of ELSTs from international centers of otorhinolaryngology and from multidisciplinary VHL centers' registries was performed.

Impact of extensive surgery in multidisciplinary approach of pterygopalatine/infratemporal fossa soft tissue sarcoma.

Background: To evaluate a strategy whereby extensive surgery ± external radiotherapy (RT) could improve local control in pterygopalatine/infratemporal fossa (PIF) sarcoma.

Procedure: Forty-one patients with a diagnosis of sarcoma involving the PIF and referred to our Institute from 1984 to 2009 were included in the analysis. Patients received multidrug chemotherapy and radiotherapy ± surgery, depending on the period of treatment.

Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.

Objective: Hereditary paraganglioma (PGL) syndromes result from germline mutations in genes encoding subunits B, C and D of the mitochondrial enzyme succinate dehydrogenase (SDHB, SDHC and SDHD). SDHB-related PGLs are known in particular for their high malignant potential. Recently, however, malignant PGLs were also reported among a small minority of Dutch carriers of the SDHD founder mutation D92Y.

Bone metastases from head and neck paragangliomas: uncommon MR findings in an uncommon condition--report of three cases.

Malignancy (defined as metastatic disease) has been reported in nearly 5% of head and neck paragangliomas. Metastases preferentially target the lymph nodes, lung, liver, or bone. We describe three patients with multiple silent bone metastases exhibiting a fatty halo at MRI that coexisted with expansive bone lesions.

Endolymphatic deafness: a particular variety of cochlear disorder.

Experimental and clinical data made us consider some types of perceptive hearing loss secondary to an alteration of the secretory structures of the cochlea including stria vascularis, spiral ligament and supporting cells. These structures are responsible for the secretion of endolymph, a fluid characterized by a high potassium concentration (150-180 mM), a low sodium concentration (<1 mM) and a positive potential (80-100 mV). This intracellular-like fluid fills the endolymphatic compartment and is essential in the transduction process which takes place in the organ of Corti.