HYPOTHESIS: Development of a new method for large vestibular aqueduct (LVA)/large endolymphatic sac anomaly (LESA) assessment using magnetic resonance imaging (MRI) and computed tomography (CT)/cone beam CT (CBCT) images. The secondary objective was to compare both modalities. BACKGROUND: The gold standard for LVA diagnosis is the analysis of CT images using Valvassori and Clemis or Cincinnati criteria. The previous studies showed inconclusive results regarding the correlation between audiological and radiological data. METHODS: Retrospective analysis of radiological images from 173 patients (315 ears), who were diagnosed with LVA/LESA based on CT/CBCT and/or MRI images of the temporal bone. The images obtained using both techniques were used to measure the following dimensions of vestibular aqueduct (VA)/endolymphatic duct (ED)/intraosseous endolymphatic sac (ES): width of the opening, length, and width at external aperture. In MRI images, the maximal contact diameters of the extraosseous or intraosseous ES and dura mater were measured as well. RESULTS: LVA has been reported to be bilateral in 82% (142 patients) and unilateral in 18% (31 patients) of cases. Comparison of MRI and CT/CBCT measurements showed a moderate correlation (0.64) in external aperture, a moderate correlation (0.57) in the width of the VA opening, and a weak correlation (0.34) in length measurements (p < 0.05). CONCLUSION: We developed a new method to identify the heterogeneous pathology of LVA/LESA using reconstruction along the VA/ED/intraosseous ES axis, three measurements on two planes, and focus on the maximal contact diameter between the extraosseous or intraosseous ES and dura mater.
Prezentujeme případ 42leté ženy s potvrzeným zděděným syndromem von Hippel-Lindau (VHL) a s recidivujícím tumorem endolymfatického vaku (ELST) vlevo, který se prezentoval jako nehomogenní, solidně – cystická expanze pyramidy vlevo. Histologicky byly zastiženy lamely kosti s přilehlým vazivem a s přítomností léze papilárního vzhledu tvořenou centrálně vazivovou a cévnatou tkání, na jejíž papily nasedají poměrně drobné kubické elementy s lehce nepravidelnými hyperchromními jádry. Ojediněle byly zastiženy i drobné cystické formace s obsahem PAS pozitivního eozinofilního materiálu. Imunohistochemicky vykazovaly kubické elementy difuzní expresi vimentinu, epiteliálního membránového antigenu (EMA), cytokeratinu AE1/AE3 a S100 proteinu (pouze slabě). Další vyšetřované markery zahrnující TTF1, PAX8 a CD10 byly negativní. Tumor endolymfatického vaku je vzácný low-grade maligní epiteliální tumor vycházející z endolymfatického vaku v temporální kosti, s incidencí 1:30 000, s popsanými méně než 300 případy. Asi 1/3 z nich je asociována s VHL, autozomálně dominantním familiárním nádorovým syndromem.
We report the case of a 42-year – old female with familiar form von Hippel-Lindau disease (VHL) and recurrent endolymphatic sac tumour (ELST), which was presented like non-homogenous, solid and cystic expansion of the left petrous temporal bone. Histologically, there was found lamellae of bone with adjacent ligament and with papillary projections with fibrovascular core. The papillae were lined by a single layer of cuboidal epithelium with hyperchromatic and lightly pleomorphic nuclei. Sporadically, small cystic formations with eosinophilic, PAS positive secretion were noted. Imunohistochemically, the cuboidal cells showed diffuse positivity for vimentin, epithelial membrane antigen (EMA), cytokeratin AE1/AE3 and S100 protein (weakly). Other markers examined, including TTF1, PAX8 and CD10, were negative. Endolymphatic sac tumour is rare low-grade malignant epithelial tumour arising from the endolymphatic sac in the temporal bone, which occurs in 1 out of 30 000 births, with just fewer than 300 cases reported in the literature. About one third of cases are associated with von Hippel- Lindau disease, an autosomal dominant familial cancer syndrome.
- MeSH
- adenom patologie MeSH
- dědičné nádorové syndromy komplikace patologie MeSH
- imunohistochemie metody MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory kostí komplikace MeSH
- nádory ucha chirurgie patologie MeSH
- saccus endolymphaticus * chirurgie patologie MeSH
- spánková kost patologie MeSH
- von Hippelova-Lindauova nemoc komplikace patologie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Autori prezentujú kazuistiku 38-ročnej pacientky, ktorá prichádza na kliniku otorinolaryngológie a chirurgie hlavy a krku v Ružomberku pre 18 mesiacov trvajúce vertigo, pravostranný tinitus, percepčnú poruchu sluchu a parézu tvárového nervu. Bol diagnostikovaný tumor spánkovej kosti o veľkosti 8 mm lokalizovaný v oblasti laterálneho, zadného polkruhovitého kanálika a vestibula, ktorý bol peroperačne identifikovaný ako extrémne vzácny low-grade agresívny adenokarcinóm saccus endolymphaticus. V kazuistike autori rozoberajú anatómiu, diagnostiku, CT a MR snímky, zvolený operačný postup, následnú dispenzarizáciu pacientky a prehľad príslušnej literatúry.
The authors present a case report of a 38-year-old female patient admitted at the Department of Otorhinolaryngology and Head and Neck Surgery in Ružomberok with an 18-month history of vertigo, right-sided tinnitus, sensorineural hearing loss and facial nerve paresis. The patient was diagnosed with an 8 mm temporal bone tumor, located in the area of the lateral posterior semicircular canal and vestibule, which was intraoperatively identified as an extremely rare aggressive low-grade adenocarcinoma of the endolymphatic sac. In the case report, the authors discuss the anatomy, diagnosis, CT and MRI images, the chosen surgical procedure and the subsequent dispensarization of the patient as well as an overview of the relevant literature.
- MeSH
- dospělí MeSH
- lidé MeSH
- papilární adenokarcinom * chirurgie diagnóza MeSH
- saccus endolymphaticus chirurgie patologie MeSH
- spánková kost chirurgie patologie MeSH
- výsledek terapie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
An endolymphatic sac tumor (ELST) is a rare, indolent but locally aggressive tumor arising in the posterior petrous ridge. Patients present with sensorineural hearing loss and tinnitus. As the tumor progresses, patients may experience vertigo, ataxia, facial nerve paresis, pain and otorrhea. Most patients present in their 4th or 5th decade with a wide age range. Patients with von Hippel-Lindau disease have an increased likelihood of developing ELST. Histologically, ELST is a low-grade adenocarcinoma. As it progresses, it destroys bone and extends into adjacent tissues. The likelihood of regional or distant metastases is remote. The optimal treatment is resection with negative margins. Patients with positive margins, gross residual disease, or unresectable tumor are treated with radiotherapy or radiosurgery. Late recurrences are common, so long follow-up is necessary to assess efficacy. The likelihood of cure depends on tumor extent and is probably in the range of 50-75%.
- MeSH
- adenokarcinom * patologie terapie MeSH
- lidé MeSH
- management nemoci MeSH
- nádory ucha * patologie terapie MeSH
- progrese nemoci MeSH
- rizikové faktory MeSH
- saccus endolymphaticus patologie MeSH
- spánková kost patologie MeSH
- von Hippelova-Lindauova nemoc * diagnóza epidemiologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Endolymphatic sac tumor (Heffner tumor) (ELST) is a very rare nonmetastasizing, locally aggressive low-grade adenocarcinoma of endolymphatic sac origin, which is linked to von-Hippel-Lindau disease (VHLD). VHLD is an autosomal dominant disorder characterized by an inherited genetic abnormality of the VHL gene located on the short arm of chromosome 3 (3p26-p25). VHL gene mutations have been shown both in ELSTs associated with VHLD and in sporadic cases. Because of the rarity of ELST, only a small number of cases have been subjected to molecular genetic analysis. We have encountered two patients with ELST, one of whom presented with a medical and family history of VHLD. The second was a sporadic case, the patient having no symptoms of VHLD. The tissues obtained from Heffner tumor and cerebellar hemangioblastoma from the patient with inherited VHLD possess a point mutation in exon 1 of VHL gene. This mutation is a C to T exchange at position 194, resulting in amino acid exchange S65L. No mutation was found in any of the three exons analyzed and in the exon-intron junctions of the VHL gene in the sporadic case.
- MeSH
- adenokarcinom genetika chirurgie patologie MeSH
- bodová mutace MeSH
- dospělí MeSH
- exony MeSH
- genetická predispozice k nemoci MeSH
- introny MeSH
- invazivní růst nádoru MeSH
- lidé MeSH
- mutační analýza DNA MeSH
- nádorový supresorový protein VHL genetika MeSH
- nádory lebky genetika chirurgie patologie MeSH
- nádory ucha genetika chirurgie patologie MeSH
- regulace genové exprese u nádorů MeSH
- rodokmen MeSH
- saccus endolymphaticus chirurgie patologie MeSH
- senioři MeSH
- spánková kost chirurgie patologie MeSH
- střední ucho chirurgie patologie MeSH
- von Hippelova-Lindauova nemoc genetika patologie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
V práci sa opisuje kazuistika 56-ročnej pacientky, ktorá bola dlhodobo liečená pre závratové stavy, mylne pripisované Menierovej chorobe. K nám bola odoslaná na denervačnú operáciu ľavého labyrintu. No po prehodnotení zobrazovacích vyšetrení a ich doplnením sme zmenili diagnózu na pyramidálnu léziu vľavo, predpokladali sme glomus temporale tumor. Peroperačne sme zistili, že tumor vyrastal zo saccus endolymphaticus, čo sa aj histologicky potvrdilo. Diskutujeme o klinických prejavoch a formách, diagnostike a liečbe tejto mimoriadne zriedkavej choroby, ktorá, ak nie je zachytená vo včasnom štádiu, môže byť veľkým liečebným problém.
Then paper describes the case report of a 56-year female patient who has been long treated for dizziness conditions, wrongly attributed to Meniere disease. We accepted the patient for denervation operation on the left labyrinth. The imaging examination made it possible to change the diagnosis for a pyramidal lesion on the left resulting in a diagnosis of tumor of glomus temporale. The preoperative examination revealed that the tumor originated from saccus endolymphaticus and histological examination confirmed it. The authors discuss clinical manifestations, forms, diagnostics and therapy of this exceptionally rare disease, which may pose a serious therapeutic problem if not diagnosed in an early stage.
- MeSH
- diferenciální diagnóza MeSH
- lidé MeSH
- saccus endolymphaticus chirurgie patologie MeSH
- vertigo etiologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- kazuistiky MeSH
