ELST and VHL

At the Padua meeting Dr. Kathlyn Marsot-Dupuch of the French VHL Study Group reported a case history of a 38-year-old patient without family history of VHL who was discovered to have an ELST along with bilateral kidney tumors and pancreatic cysts. There were no retinal or central nervous system hemangioblastomas. Imaging studies showed a large vascular tumor of the temporal bone, but the inner ear appeared normal.

This case illustrates that ELST may develop with no change in hearing or balance. This patient did not show any of the more common symptoms of VHL, and a definitive diagnosis was only possible through DNA testing. The French Study Group recommends that ELST be considered as a major diagnostic clue of a diagnosis of VHL. They recommend that any patient with a vascular tumor of the temporal bone located in the area of the ELST should be checked for the VHL mutation.

From a paper presented at the VHL Symposium in Padua, Italy "Is endolymphatic sac tumor a major criterion for diagnosis of VHL?" by Kathlyn Marsot-Dupuch, Stéphane Richard, et al., French VHL Study Group.

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