title: Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with atypical pathology of endolymphatic sac tumor.
abstract: The authors described a case of a patient with co-existing endolymphatic sac tumor (ELST) and hemangioblastoma in the posterior cranial fossa, which belonged to a subtype of Von Hippel-Lindau (VHL) disease confirmed by the test of VHL-gene. The signs in this 42-year-old female included intermittent headache and dizziness. Imaging revealed a giant mass in the right cerebellopontine angle (CPA) region and another lesion in the left cerebellar hemisphere. The results of biopsy after two operations confirmed the diagnosis respectively. Both of the tumors were resected totally. Nevertheless, we had to confess the misdiagnosis as vascular tumor instead of ELST at the initial diagnosis because of the rarity of ELST associated with atypical histological characteristics. The purposes we reported this case were to describe the atypical pathological feature of ELST and the mutation of germline VHL not mentioned in previously literature, furthermore, to foster understanding of ELSTs with the avoidance of the similar misdiagnosis as far as possible in future.
authors: Department of Neurosurgery, West China Hospital of Sichuan University No. 37, Guoxue Alley, Chengdu, 610041, Sichuan Province, China.
authors: Xiang
authors: X
authors: Yang
authors: Department of Neurosurgery, West China Hospital of Sichuan University No. 37, Guoxue Alley, Chengdu, 610041, Sichuan Province, China.
authors: Xue-Song
authors: XS
authors: Liu
authors: Department of Neurosurgery, West China Hospital of Sichuan University No. 37, Guoxue Alley, Chengdu, 610041, Sichuan Province, China.
authors: Yuan
authors: Y
authors: Fang
authors: Department of Pathology, West China Hospital of Sichuan University No. 37, Guoxue Alley, Chengdu, 610041, Sichuan Province, China.
authors: Xiu-Hui
authors: XH
authors: Zhang
authors: Department of Neurosurgery, West China Hospital of Sichuan University No. 37, Guoxue Alley, Chengdu, 610041, Sichuan Province, China.
authors: Yue-Kang
authors: YK
authors: Zhang
mesh_terms: D000328:Adult; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics; D001706:Biopsy; D003388:Cranial Fossa, Posterior / Q000737:chemistry / Q000473:pathology* / Q000601:surgery; D003399:Craniotomy; D004252:DNA Mutational Analysis; D003951:Diagnostic Errors; D004428:Ear Neoplasms / Q000737:chemistry / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D004712:Endolymphatic Sac / Q000737:chemistry / Q000473:pathology* / Q000601:surgery; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D018325:Hemangioblastoma / Q000737:chemistry / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D006801:Humans; D007150:Immunohistochemistry; D008279:Magnetic Resonance Imaging; D009361:Neoplasm Invasiveness; D009378:Neoplasms, Multiple Primary; D011237:Predictive Value of Tests; D019292:Skull Base Neoplasms / Q000737:chemistry / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D013701:Temporal Bone / Q000737:chemistry / Q000473:pathology* / Q000601:surgery; D014057:Tomography, X-Ray Computed; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics
chemical_list: D014408:Biomarkers, Tumor; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human
keywords: Endolymphatic sac tumor (ELST); cerebellar hemisphere; cerebellopontine angle (CPA); hemangioblastoma; von Hippel-Lindau disease (VHL)