A histopathological connection between a fatal endolymphatic sac tumour and von Hippel–Lindau disease from 1960

Abstract

Objective: To highlight a case from 1960 connecting endolymphatic sac tumour and von Hippel-Lindau disease.Case report: In 1960, a 24-year-old woman presented with unilateral hearing loss, pulsatile tinnitus and a mass visible on otoscopy. The patient underwent surgical biopsy, which was complicated by haemorrhage, and ultimately resulted in death. At autopsy, a destructive temporal bone neoplasm with cystic and papillary architecture was observed that had eroded into the otic capsule. Intra-abdominal lesions consistent with von Hippel-Lindau disease were also observed, and the surgeon postulated a connection between endolymphatic sac tumour and von Hippel-Lindau disease.Method: A review of the literature was carried out using PubMed. Conclusion: Endolymphatic sac tumours are rare neoplasms of the temporal bone that can occur sporadically or as part of von Hippel-Lindau disease. The connection between endolymphatic sac tumour and von Hippel-Lindau disease was first proposed in 1988 and formalised in 1997. We believe that this case represents the first documented connection between endolymphatic sac tumour and von Hippel-Lindau disease.

CAIX and pax-8 Commonly Immunoreactive in Endolymphatic Sac Tumors: A Clinicopathologic Study of 26 Cases with Differential Considerations for Metastatic Renal Cell Carcinoma in von Hippel-Lindau Patients

“…The connection between an ELST and VHL syndrome was first postulated by a surgeon who observed the autopsy findings of a 24 year old patient who died as a result of biopsy complications of a temporal bone cystic and papillary neoplasm, and was documented to have intra-abdominal lesions of VHL syndrome [22], although not formally proposed until the 1980s [1,7,10] and ultimately confirmed as part of the disorder in the late 1990s [3]. VHL syndrome is an autosomal-dominant inherited disease, affecting about 1 in 36,000 people, caused by germline mutations in the tumor suppressor gene VHL, mapped to 3p26-p25.…”

Current Treatment of Endolymphatic Sac Tumor of the Temporal Bone

“…Thus, particularly in patients with clinical manifestations simulating Ménière's disease, the endolymphatic sac region must be carefully examined in order not to miss an ELST [25]. ELSTs may be sporadic or associated with von Hippel-Lindau (VHL) disease which is attributable to inactivation of a tumor suppressor gene on the short arm of chromosome 3, and inherited as an autosomal dominant trait with variable expression [1,14,15,20,[26][27][28][29][30][31][32][33][34][35][36][37]. VHL predisposes patients to multiple hemangioblastomas of the retina or central nervous system as well as tumors and cysts in various organs, including renal cell carcinoma, pheochromocytoma, paraganglioma, ELST, epididymal cystadenoma, and pancreatic serous cystadenoma or neuroendocrine tumors [1].…”

“…They may be very vascular and biopsy may be complicated by bleeding, which may be severe [32]. In addition, the origin of the tumor in the region of the inner ear makes it inaccessible for a biopsy unless this is intra-operative.…”

Tumor del saco endolinfático: imágenes de un caso

“…El tumor del saco endolinfático (TSEL), o tumor de Heffner, es un tumor neuroectodérmico infrecuente del aspecto dorsal de la parte petrosa del hueso temporal, de tipo adenocarcinoma de bajo grado de origen del saco endolinfático. Tiene un bajo potencial maligno y es un tumor localmente agresivo del oído interno 1 , pero no se han reportado casos de metástasis a distancia 2 . Las lesiones pueden involucrar a células mastoideas, segmento mastoideo del nervio facial, canales semicirculares, cóclea, tímpano, foramen yugular, canal auditivo interno o el ápex petroso 3 .…”

“…Su incidencia en la población adulta es de aproximadamente 1:30.000 1 , es más frecuente en la cuarta década de vida y en mujeres 4 . Estos tumores son extremadamente raros, con aproximadamente 200 casos reportados en la literatura desde su primera caracterización a fines de la década de 1980 1,4 . Se ha descrito un intervalo promedio de 84,7 meses entre el inicio de los síntomas y el diagnóstico 3 .…”