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Von Hippel−Lindau Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Von Hippel−Lindau (VHL) syndrome is a hereditary autosomal dominant disorder characterized by the formation of cysts and/or tumors in several organ systems, including hemangioblastoma (a benign tumor composed of newly formed blood vessels, and typically affecting the central nervous system [cerebellar hemangioblastoma] and retina [retinal hemangioblastoma or angioma]), clear cell renal cell carcinoma (ccRCC), pheochromocytoma, paraganglioma, pancreatic neuroendocrine tumor (PNET), endolymphatic sac tumor (ELST), papillary cystadenoma of the epididymis and broad ligament, and so on.
Von Hippel–Lindau Syndrome
Published in Dongyou Liu, Tumors and Cancers, 2017
VHL syndrome has an estimated incidence of 1 case per 36,000 live births, with first manifestations emerging in the second decade of life and complete penetrance by 70 years of age. Notably, an endolymphatic sac tumor has a mean age of onset at 22 years and occurs in 10% of VHL patients; retinal hemangioblastoma, 25 years and 60%; pheochromocytoma, 30 years and 20%; cerebellar and spinal hemangioblastomas, 33 years and 65%; pancreatic cysts, microcystic serous adenoma, and neuroendocrine tumor, 36 years and 35%–70%; renal clear cell carcinoma and cysts, 39 years and 45%; and epididymal and broad ligament cystadenomas, unknown age and >50% males.
Enlargement of the vestibular aqueduct at cone-beam CT: ELST or EVA?
Published in Hearing, Balance and Communication, 2020
Davide Brotto, Federica Sartorato
First described by Cotunnius in 1761 [1], the vestibular aqueduct (VA) is a bone canal localized in the temporal bone and is considered a part of the bony labyrinth. Its orifice can be found at the hinder part of the medial wall of the vestibule. With a posterosuperior direction, the VA extends towards the posteromedial surface of the petrous portion of the temporal bone [2]. The canal is known to host an outpouch of the membranous labyrinth, the ductus endolymphaticus, ending in a cul-de-sac between the layers of the dura mater within the cranial cavity, the endolymphatic sac [2]. On the contrary, the belief that a vessel is hosted in the canal is quite widespread, although it was proven to be false [3]. As a matter of fact, the vein of the vestibular aqueduct (VVA) was correctly described by Cotugno in 1761 [1] and by Siebenmann in 1894 [4]: the VVA takes an individual bony course parallel to the VA [3]. As a consequence of the above mentioned anatomical relationships, pathologies causing abnormalities of the VA are the abnormal embryological development or the acquired degeneration of the ductus endolymphaticus and/or the endolymphatic sac. The congenital bulging of the endolymphatic sac is supposed to cause the enlarged vestibular aqueduct (EVA), the most frequent malformative cause of hearing loss [5]. On the other hand, a neoplastic degeneration of the cells of the endolymphatic sac is the cause of the development of the endolymphatic sac tumor (ELST) [6].
Clinical features and treatment of endolymphatic sac tumor
Published in Acta Oto-Laryngologica, 2020
Seong Hoon Bae, Seung-seob Kim, Sang Hyun Kwak, Jin Sei Jung, Jae Young Choi, In Seok Moon
Endolymphatic sac tumor (ELST) is extremely rare; less than 300 cases have been reported in the literature [1]. Approximately 20% of the patients with von Hippel-Lindau (VHL) disease have ELST, whereas sporadic ELSTs are very rare in the general population, and risk factors have not been identified [2].