Papillary adenoma of endolymphatic sac origin: a temporal bone tumor in von Hippel—Lindau disease

1997 ◽  
Vol 87 (3) ◽  
pp. 445-449 ◽  
Author(s):  
Jean-Christophe Ouallet ◽  
Kathlyn Marsot-Dupuch ◽  
Remy Van Effenterre ◽  
Michele Kujas ◽  
Jean-Michel Tubiana
Keyword(s):  
Temporal Bone ◽  
Imaging Techniques ◽  
Endolymphatic Sac ◽  
Cystic Tumor ◽  
Content Type ◽  
Von Hippel Lindau ◽  
History Of ◽  
Von Hippel Lindau Disease ◽  
Magnetic Resonance Imaging Techniques ◽  
Temporal Bone Tumor

✓ This report describes a patient with von Hippel—Lindau disease who presented with an 8-year history of a slow-growing, locally invasive vascularized lesion of the temporal bone involving the cerebellopontine angle. The mass, studied by computerized tomography scanning and magnetic resonance imaging techniques, was partly cystic in appearance. After removal of the mass, pathological studies confirmed a papillary cystic tumor with characteristics that have been described in tumors with an endolymphatic sac origin. These rare neoplasms constitute a distinct pathological entity and deserve wider recognition.

Endolymphaticsac tumor – case report

2017 ◽  
Vol 6 (1) ◽  
pp. 39-42
Author(s):  
Jerzy Kuczkowski ◽  
Wojciech Brzoznowski ◽  
Tomasz Nowicki ◽  
Jolanta Szade
Keyword(s):  
Temporal Bone ◽  
Bone Destruction ◽  
Endolymphatic Sac ◽  
Endolymphatic Sac Tumor ◽  
Von Hippel Lindau ◽  
History Of ◽  
Temporal Bone Tumor ◽  
Von Hippel Lindau Syndrome ◽  
Tumor Remission

The aim of this paper is to present the case of a 70-year-old women with endolymphatic sac tumor and temporal bone destruction treated at Otolaryngology Department of MUG. The patient was admitted to our Department due to a 3-year history of hearing loss, dizziness and ear pain. The first diagnosis was temporal bone tumor connected with von Hippel-Lindau syndrome (VHL). The patient was surgically treated. During intraoperative examination, a neoplasm was determined. The tumor was excised via transmastoid approach with sigmoid sinus skeletonization. After treatment, her pains disappeared. Histopathological and immunohistochemical examination revealed endolymphatic sac tumor. Follow-up CT showed no tumor remission.

scholarly journals Endolymphatic Sac Tumor: A Rare Case

2020 ◽  
pp. 1-4
Author(s):  
Amal Algarni ◽  
Amal Algarni ◽  
Yaser Orz ◽  
Sofia Muzzafar ◽  
Wafa Alshakweer
Keyword(s):  
Hearing Loss ◽  
Temporal Bone ◽  
Rare Case ◽  
Disease Patient ◽  
Endolymphatic Sac ◽  
Endolymphatic Sac Tumor ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Petrous Portion ◽  
Vhl Disease

Endolymphatic sac tumor is rare, locally aggressive and non-metastasizing neoplasm arising from the endolymphatic sac of the petrous portion of the temporal bone. Most occur in adult and present with ipsilateral hearing loss. They can be sporadic or associated with Von-Hippel-Lindau disease. Patient with endolymphatic sac tumor should be screened for VHL disease. We report a case of 52-year-old female with dizziness and headache. Histopathology was consistent with typical features of endolymphatic sac tumor. This was confirmed by cytokeratin and EMA positivity and TTF-1 negativity. This case is presented for its rarity with only few cases reported.

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

2017 ◽  
Vol 132 (1) ◽  
pp. 75-78 ◽  
Author(s):  
J A Bellairs ◽  
M B Gluth
Keyword(s):  
Temporal Bone ◽  
Bone Neoplasm ◽  
Endolymphatic Sac ◽  
Unilateral Hearing Loss ◽  
Otic Capsule ◽  
Review Of The Literature ◽  
Surgical Biopsy ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Abdominal Lesions

AbstractObjective: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.

Are Papillary Adenomas Endolymphatic Sac Tumors?

1995 ◽  
Vol 104 (8) ◽  
pp. 613-619 ◽  
Author(s):  
Anita Pollak ◽  
Max Spycher ◽  
Andreas Böhmer ◽  
Ugo Fisch
Keyword(s):  
Temporal Bone ◽  
Lateral Wall ◽  
Jugular Bulb ◽  
Endolymphatic Sac ◽  
Middle Ear Mucosa ◽  
Von Hippel Lindau ◽  
Cystic Tumors ◽  
Resected Tumor ◽  
S 100 ◽  
Von Hippel Lindau Disease

Papillary adenomas of the temporal bone have been considered as originating from the endolymphatic sac. The radiologic, surgical, and pathologic findings in a patient suffering from von Hippel—Lindau disease with bilateral papillary adenomas of the temporal bone cast some doubt on this site of origin. Radiologically, the center of tumor growth was at the top of the jugular bulb. Intraoperatively, the tumor was found to have reached the lateral wall of the endolymphatic sac, but the lumen was tumor-free. Both ciliated and nonciliated tumor cells were found in the resected tumor, resembling the ultrastructure of normal epithelial lining in the human mastoid. A strong positive immunohistochemical reaction for keratin and negative reactions for vimentin, glial fibrillary acidic protein, and S-100 protein in the tumor tissue of this patient are typical for middle ear mucosa. Therefore, the described papillary adenoma originated from the mucosa of the pneumatic spaces surrounding the jugular bulb, and the theory that the endolymphatic sac is the origin of all papillary-cystic tumors (adenocarcinomas) should be questioned.

Endolymphatic Sac Tumor and von Hippel-Lindau Disease

2000 ◽  
Vol 175 (3) ◽  
pp. 925-926 ◽  
Author(s):  
K. Ayadi ◽  
Kh. Ben Mahfoudh ◽  
M. Khannous ◽  
J. Mnif
Keyword(s):  
Endolymphatic Sac ◽  
Endolymphatic Sac Tumor ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

VHL gene inactivation in an endolymphatic sac tumor associated with von Hippel- Lindau disease

Neurology ◽  
1999 ◽  
Vol 53 (1) ◽  
pp. 208-208 ◽  
Author(s):  
N. Kawahara ◽  
H. Kume ◽  
K. Ueki ◽  
K. Mishima ◽  
T. Sasaki ◽  
...  
Keyword(s):  
Gene Inactivation ◽  
Endolymphatic Sac ◽  
Endolymphatic Sac Tumor ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Hemangioblastoma diagnosis and surveillance in von Hippel–Lindau disease: a consensus statement

2021 ◽  
pp. 1-6
Author(s):  
Kristin Huntoon ◽  
Matthew J. Shepard ◽  
Rimas V. Lukas ◽  
Ian E. McCutcheon ◽  
Anthony B. Daniels ◽  
...  
Keyword(s):  
Age At Onset ◽  
Benign Tumors ◽  
Expert Committee ◽  
Level Of Evidence ◽  
Von Hippel Lindau ◽  
Assessment Development ◽  
History Of ◽  
Von Hippel Lindau Disease ◽  
The Central Nervous System ◽  
Cancer Network

OBJECTIVE Hemangioblastomas are a frequent underlying cause of neurological morbidity and death in patients with von Hippel–Lindau disease (VHL). Although these benign tumors can cause significant neurological debility when undetected and untreated, unified evidence-based surveillance recommendations for VHL patients have not been established. To develop consensus recommendations, the VHL Alliance established an expert committee, named the International VHL Surveillance Guidelines Consortium, to define surveillance recommendations. METHODS The Central Nervous System (CNS) Hemangioblastoma Subcommittee of the Guidelines Consortium was formed as a multidisciplinary team of experts in the diagnosis and management of hemangioblastomas. Recommendations were formulated using the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) and National Comprehensive Cancer Network Categories of Evidence and Consensus categorization after a comprehensive literature review. RESULTS Published studies (n = 49) that discussed age at onset, MRI frequency, natural history of VHL, and the risks and benefits of surveillance were analyzed. Based on this analysis, the authors recommend that clinical evaluation (yearly) be used as the primary screening tool for hemangioblastomas in VHL. The subcommittee suggests that screening be performed between the ages of 11 and 65 years, or with the onset of symptoms, for synchronicity with other testing regimens in VHL. The subcommittee also recommends that baseline MRI be first performed at the age of 11 years (suggested 2B, level of evidence D) or after identification of neurological symptoms or signs (if earlier) and continue every 2 years (recommended 2A, level of evidence A). CONCLUSIONS The CNS Hemangioblastoma Subcommittee of the International VHL Surveillance Guidelines Consortium here proposes guidelines that aim to increase the early detection of VHL-associated hemangioblastomas to reduce their morbidity and mortality.

The natural history of intracranial venous angiomas

1991 ◽  
Vol 75 (5) ◽  
pp. 715-722 ◽  
Author(s):  
Timothy B. Garner ◽  
O. Del Curling ◽  
David L. Kelly ◽  
D. Wayne Laster
Keyword(s):  
Natural History ◽  
Imaging Techniques ◽  
Venous Drainage ◽  
Vascular Lesion ◽  
Neurological Dysfunction ◽  
Content Type ◽  
History Of ◽  
Clinical Records ◽  
Venous Angiomas ◽  
Fine Print

✓ Cerebral venous angiomas are congenital anomalies of the intracranial venous drainage. Many believe that they are associated with a high risk of hemorrhage and neurological dysfunction, but newer neurodiagnostic imaging techniques are showing not only that they are more common than previously known but also that many have no associated symptoms. In this retrospective study, the natural history of venous angiomas was examined in 100 patients (48 males and 52 females) with radiographically identifiable lesions treated over a 14-year period. Information on the natural history of the lesion was obtained from clinical records and follow-up data. Imaging studies included angiography, computerized tomography, and magnetic resonance imaging. Angioma locations were classified as frontal (42 cases), parietal (24 cases), occipital (4 cases), temporal (2 cases), basal or ventricular (11 cases), cerebellar (14 cases), or brain stem (3 cases); 47 lesions were on the left side. Headache as a presenting symptom was common (36 patients) and often led to other radiographic studies, but this appeared to be related to the vascular lesion in only four patients. Other possibly related complications were hemorrhage in one patient, seizures in five, and transient focal deficits in eight. Fifteen patients had no neurological signs or symptoms. The mean patient age at last contact was 45.3 years (range 3 to 94 years). All patients have been managed without surgery. It is concluded that significant complications secondary to venous angiomas are infrequent and that surgical resection of these lesions and of surrounding brain is rarely indicated.

Intraorbital optic nerve hemangioblastoma with von Hippel-Lindau disease

1982 ◽  
Vol 56 (3) ◽  
pp. 426-429 ◽  
Author(s):  
Seiich In ◽  
Jun Miyagi ◽  
Nobuto Kojho ◽  
Shinken Kuramoto ◽  
Masaki Uehara
Keyword(s):  
Optic Nerve ◽  
Content Type ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Dural Attachment ◽  
Microscopic Findings ◽  
Fine Print

✓ An intraorbital hemangioblastoma of the optic nerve is reported in a 23-year-old woman with von Hippel-Lindau disease. The absence of dural attachment and the microscopic findings were characteristic of hemangioblastoma. Four years later the patient developed a cystic hemangioblastoma in the left cerebellum which was successfully treated.

scholarly journals von Hippel-Lindau Disease: an Update

2019 ◽  
Vol 7 (4) ◽  
pp. 227-235 ◽  
Author(s):  
Eamonn R Maher ◽  
Richard N Sandford
Keyword(s):  
Natural History ◽  
Patient Outcomes ◽  
Molecular Characterisation ◽  
Von Hippel Lindau ◽  
Functional Characterisation ◽  
History Of ◽  
Vhl Protein ◽  
Von Hippel Lindau Disease ◽  
Vhl Disease ◽  
Improve Patient

Abstract Purpose of Review In this review, we discuss the key molecular and clinical developments in VHL disease that have the potential to impact on the natural history of the disease and improve patient outcomes. Recent Findings Identifiable mutations in VHL underlie most cases of VHL and define clear genotype-phenotype correlations. Detailed clinical and molecular characterisation has allowed the implementation of lifelong screening programmes that have improved clinical outcomes. Functional characterisation of the VHL protein complex has revealed its role in oxygen sensing and the mechanisms of tumourigenesis that are now being exploited to develop novel therapies for VHL and renal cancer. Summary The molecular and cellular landscape of VHL-associated tumours is revealing new opportunities to modify the natural history of the disease and develop therapies. Drugs are now entering clinical trials and combined with improved clinical and molecular diagnosis, and lifelong surveillance programmes, further progress towards reducing the morbidity and mortality associated with VHL disease is anticipated.

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