A Case for Genetic Testing in Isolated Tympanic Paragangliomas.

OBJECTIVE: The aim of this study is to describe two clinical cases, which we believe highlight the need to consider routine genetic testing of all patients with new diagnosis of a tympanic paraganglioma (PGL). PATIENTS: Two patients seen in the ENT clinic at a tertiary center with a diagnosis of isolated tympanic PGL, without family history. INTERVENTION: Since 2016, all patients with newly diagnosed isolated tympanic PGL (glomus tympanicum) are offered review by the clinical genetic team and genetic testing of a panel of paraganglioma/phaeochromocytoma predisposition genes. Previously only those with multiple PGL or a family history were tested. MAIN OUTCOME MEASURES: We describe the results of genetic testing, the clinical course and discuss the ongoing implications for management. RESULTS: Both cases were identified to have a pathogenic variant in the SDHB gene after initial surgery. The clinical course for both cases was complicated by disease recurrence, as well as metastatic and secretory disease in one case. Knowledge of genetic status has influenced ongoing management, with annual MRI surveillance for other SDH-related tumors. CONCLUSION: These two cases reinforce the importance of offering genetic testing for all cases of isolated tympanic PGL. The discovery of a significant underlying genetic variant may affect management decisions and subsequent follow-up.

Extramedullary Hematopoiesis Presenting as Bilateral Glomus Tympanicum-First Case Report in a Pediatric Patient and With Bilateral Presentation.

To the best of our knowledge, this is the first case report of middle ear extramedullary hematopoiesis (EMH) in a pediatric patient as well as the first bilateral presentation reported in both children and adults. We report a 13-year-old African-American female with sickle cell disease who developed bilateral hearing loss, with magnetic resonance imaging findings consistent with bilateral glomus tympanicum (GT). Upon excisional biopsy, however, EMH was diagnosed histologically. Besides its novelty, this case highlights the importance of considering EMH in the differential diagnosis of GT including cases with bilateral presentation that may be otherwise highly suggestive of the familial form of GT.

[Imaging evaluation of the cases with tympanicum and pulsatile tinnitus].

OBJECTIVE: To analyze the CT and MRI features of glomus tympanicum tumors accompanied with tympanitis and evaluate the diagnostic value of CT and MRI in order to improve the cognition for the disease. METHODS: The clinical materials and images of 8 patients with the symptoms of pulsatile tinnitus and hearing loss in whom glomus tympanicum tumors with tympanitis surgically and pathologically confirmed were retrospectively reviewed. The characteristics and diagnostic value of CT and MR imaging were summarized. RESULTS: By CT examination the lesions in middle ear and mastoid were preoperatively diagnosed as tympanitis in five cases and only in three cases the glomus tympanicum tumors were suspected. In six patients underwent MR examination the lesions were all preoperatively diagnosed as glomus tympanicum tumors accompanied with tympanitis. HRCT scanning of the temporal bone in all patients showed the soft tissue lesions in the tympanic cavity and mastoid, and the caritas tympanic were mostly (n = 3) or completely (n = 5) occupied by soft tissue lesions, but the auditory ossicles were all without destruction. Contrast-enhanced axial CT scanning performed in five cases showed less soft tissue mass on the cochlear promontory, and the size of mass was less than that observed in MR imaging. MR T(1)-weighted imaging showed the presence of isointense lesions in middle ear and isointense (n = 3) or hyperintense (n = 3) lesions in mastoid. On T(2)-weighted imaging the lesions with slight hyperintense were viewed in the middle ear and the lesions with hyperintense in mastoid. T(1)-weighted gadolinium-enhanced MRI showed the masses in tympanum were markedly increased enhancement, but the lesions in mastoid without enhancement. MRI and CT imaging revealed the masses in six cases of eight extending to the eustachian tube. CONCLUSION: When the glomus tympanicum tumor was accompanied with tympanitis the tumor could be misdiagnosed or missed only by CT examination. The patients with pulsatile tinnitus should be taken seriously. MRI with contrast-enhancement is superior to CT in the preoperative diagnosis and accurately evaluation for the glomus tympanicum tumors with tympanitis.

[Endocrine surgery for neck paraganglioma: operation, radiation therapy or wait and scan?]. / Endokrine Chirurgie zervikaler Paragangliome: Operation, Strahlentherapie oder "wait and scan"?

BACKGROUND: Head and neck paraganglioma (HNP) represent rare endocrine tumors. Therapy is decided on genetic findings, tumor characteristics (e.g. tumor size, localization and dignity), age of patient and symptoms. In terms of local control radiation therapy is as equally effective as surgery but surgical morbidity rates secondary to cranial nerve injuries remain high. PATIENTS: Based on 6 patients with 11 solitary (4 patients) and multiple (2 patients) HNP (8 carotid body tumors, 1 vagal, 1 jugular and 1 jugulotympanic paraganglioma) the specific characteristics of the need for surgery as well as correct choice of treatment in cases of sporadic succinate dehydrogenase (SDH) negative and hereditary SDH positive HNP will be exemplarily demonstrated. RESULTS: A total of 6 carotid body tumors (four sporadic, two hereditary) were resected in 4 patients, five as primary surgery and one as a revision procedure. In one case a preoperative embolization was performed 24 h before surgery. Malignancy could not be proven in any patient. The 30-day mortality was zero. In the patient with bilateral hereditary carotid body tumors, unilateral local recurrent disease occurred. After resection of the recurrent tumor permanent unilateral paralysis of the laryngeal nerve, glossopharyngeal nerve and hypoglossal nerve occurred. All patients were followed-up postoperatively for a mean of 64 months (range 23-78 months) with a local tumor control rate of 100%. The overall survival rate after 5 years was 100%. CONCLUSIONS: Given a very strict indication with awareness of surgical risks selective surgery has a key position with low postoperative morbidity in the treatment of HNPs. We prefer surgery for small unilateral paraganglioma, malignant or functioning tumors.

A jugulotympanic paraganglioma with craniocervical extension.

Jugulotympanic paragangliomas (JTPs) are rarely encountered benign diseases derived embryonically from the autonomic nervous system. Although JTPs may originate extracranially or intracranially, little has been reported in the literature about large JTPs involving several anatomical structures in the craniofacial regions. Management of large JTPs is controversial. The authors describe a large JTP invading the cranial bones and extending through the neck to the left clavicle. Doppler sonography, computed tomography and magnetic resonance imaging were performed preoperatively to confirm the diagnosis. Combined therapeutic approaches were undertaken with preoperative selective embolization followed by craniofacial resection in cooperation with neurosurgeons.

Gamma knife radiosurgery for glomus jugulare and tympanicum.

OBJECTIVE: To establish the role of gamma knife radiosurgery (GKS) as a treatment strategy for glomus jugulare and tympanicum. METHOD: A retrospective review of 14 glomus tumors, including 11 glomus jugulare and 3 glomus tympanicum tumors, which were treated by GKS in Taipei Veterans General Hospital from 1993 to 2009, was conducted. Two of these cases had undergone prior surgery with partial tumor resection, and the other 12 cases received primary treatment with GKS after a thorough neuroimaging and cerebral angiography. The tumor volume ranged from 6.5 to 22.1 ml. The maximum dose at the tumor center ranged from 21.6 to 26.3 Gy. All 14 patients were regularly followed up by clinical and radiological evaluations. The median follow-up time was 40.3 months. RESULTS: All 14 patients had significant tumor regression after radiosurgery. The median tumor volume reduction was 34.0% (range 3-79%). Only 1 patient had temporary tumor volume progression (24% increment 6 months post-treatment), accompanied with unilateral facial palsy (from grade III to grade IV) and hearing impairment (from grade I to grade II). The tumor volume of this patient had regressed by 12 months, but facial palsy persisted. The tumor control rate in the series was 100% (n = 14/14), and the preservation rate of cranial nerve function was 92.8% (13/14). There was no complication of lower cranial nerve damage after radiosurgery. CONCLUSION: GKS appeared to be a good alternative or adjuvant to microsurgical resection in patients who are not amenable to complete surgical eradication, with an excellent tumor control rate and little morbidity after long-term follow-up.

Management of complex tympanojugular paragangliomas including endovascular intervention.

OBJECTIVES/HYPOTHESIS: To identify complex cases of tympanojugular paraganglioma (TJP) and to analyze their management and surgical outcome. To present strategy and guidelines on how to deal with the perioperative complicating factors. STUDY DESIGN: Retrospective analysis. METHODS: We retrospectively studied 212 TJP patients to identify the complex cases and analyzed their management and surgical outcome. The criteria for complex TJP are: 1) very large size; 2) large intradural extension (IDE); 3) extension to the cavernous sinus, foramen magnum, and clivus; 4) significant involvement of the internal carotid artery (ICA); 5) a solitary ICA on the lesion side; 6) involvement of the vertebral artery; 7) dominant or unilateral sigmoid sinus on the lesion side; 8) bilateral or multiple paragangliomas; and 9) recurrence. RESULTS: Sixty patients were classified as complex. Forty-five patients had tumors with IDE. Twenty patients with tumor involving ICA underwent preoperative endovascular intervention. Two patients had a solitary ICA and two others unilateral sigmoid sinus on the lesion side. Thirteen patients had multicentric tumors, and three patients had bilateral ones. The main procedure was the infratemporal fossa approach type A. Total removal was achieved in 46 patients, and five of them experienced recurrence. CONCLUSIONS: It is essential to carefully investigate the hemodynamics of the brain in planning surgery. A proper preoperative endovascular intervention facilitates gross total tumor removal. In bilateral paragangliomas, lower cranial nerves' function should be preserved at least unilaterally. Staged removal is recommended for a tumor with a large intradural component.

Clinical, histopathologic, and radiographic indicators of malignancy in head and neck paragangliomas.

OBJECTIVE: The goal of this study is to review our series of head and neck paragangliomas to identify factors that may help in predicting malignancy. STUDY DESIGN: Case series with chart review. SETTING: Academic medical center. SUBJECTS AND METHODS: Subjects with head and neck paragangliomas at our institution from 1976 to current were reviewed. In addition to statistical comparisons of epidemiologic factors, pathologic and radiographic characteristics were reviewed. RESULTS: Of the 84 subjects, there were seven malignant paragangliomas (8%). Age was found to be significantly different between the benign and malignant subgroups, with an average age of 54 ± 16 and 40 ± 12 years, respectively (P = 0.02). Pain was a presenting complaint in five patients with benign disease (6%), and five of the seven malignant patients (71%) presented with pain, showing a significant association between pain and disease type (P < 0.0001). The odds ratio for a patient with pain having a malignant tumor was 36 (95% CI: 5.5-234). Enlarging neck mass was noted in all cases of malignant disease, but only in 31 percent of cases of benign disease (P < 0.0001). In a secondary analysis of carotid body tumors alone, enlarging neck mass was not found to be significant between benign and malignant disease (P = 0.14). However, pain continued to be significantly different, with 67 percent of malignant lesions demonstrating pain, compared with only 11 percent of benign lesions (P = 0.01). CONCLUSION: This study suggests that pain, a rapidly enlarging neck mass, and younger age are predictive factors of underlying malignancy, which should prompt one to consider an aggressive diagnostic and management approach.

Middle ear adenomatous tumor: a not so rare glomus tympanicum-mimicking lesion.

BACKGROUND AND PURPOSE: Middle ear adenomatous tumors (MEAT) are rare tumors which can be begin or malignant and can present a neuroendocrine differentiation. Their radiological aspect is very similar to glomus tympanicum (GT) which are the most common tumoral lesions of the middle ear. We present several radiological and clinical findings that could help radiologists to accurately identify MEAT. MATERIAL AND METHODS: We retrospectively reviewed the radiological and clinical findings of three patients with MEAT and of eight patients with GT. Diagnostic was obtained after surgical resection in all cases. All patients had high resolution CT and MR of the middle ear associated with a subtracted digital carotid angiography. Tumor location, size, extension, signal intensity, and enhancement were analysed. From the medical records of the patients, clinical manifestations (hearing loss, tinnitus), evolution length and recurrences were noted. RESULTS: MEAT and GT appeared as tissular lesion with significant enhancement on CT and MR. A vascular blush was present on angiography in all cases of GT and absent from all cases of MEAT. A close relationship between the tumor and the Jacobson's nerve or its branches was identified in all cases of GT. Pulsatile tinnitus was present in all patients with GT and absent in all patients with MEAT. CONCLUSION: A middle ear tissular lesion clearly separated from the Jacobson nerve or its branches, showing significant enhancement after contrast medium injection but with a normal angiography, should make one suspicious for MEAT.

An unusual middle-ear mass.

OBJECTIVE: We describe a case of endolymphatic sac tumour confined to the middle ear, which radiologically mimicked a glomus tympanicum, in a 58-year-old woman with tinnitus. CASE REPORT: A 58-year-old woman presented with a one-year history of right-sided tinnitus. The clinical, radiological and surgical features were felt to be in keeping with a glomus tympanicum. However, the histopathological picture was that of a low grade papillary carcinoma of the endolymphatic sac, i.e. an endolymphatic sac tumour. CONCLUSION: Endolymphatic sac tumours are classically locally aggressive and centred around the petrous temporal bone. Further growth results in complete replacement of the mastoid and petrous pyramid by tumour. To the best of our knowledge, there have been no previous reports of an endolymphatic sac tumour located solely within the hypo- and epitympanum of the middle ear.

The crucial role of imaging in determining the approach to glomus tympanicum tumours.

Glomus tumours are rare vascular tumours arising within the lateral skull base, infratemporal fossa and upper neck. When they are confined to the middle ear cleft, they are termed glomus tympanicum tumours. Traditionally tympanicum tumours have been treated surgically and their removal has generally been regarded as quite straightforward. Our experience with these lesions however, is that they fall into two distinct categories, those with and those without hypotympanic involvement. This distinction can be determined by high resolution CT scanning in coronal and axial planes. Mesotympanic tumours are indeed typically straightforward in their removal and can be approached by a transcanal route. Hypotympanic extension requires additional evaluation by MRI, and a more extensive surgical approach. In this paper, we present our management approach based on a series of nine cases. We conclude that determining the tumour extension preoperatively by using modern imaging techniques is essential in planning the surgery.

[Case of paraganglioma of the originally numerous location in the 24 year old male]. / Przypadek klebczaka o pierwotnie mnogim umiejscowieniu u 24-letniego mezczyzny.

INTRODUCTION: Paragangliomas, in other words chemodectomas were bening tumors arising from the paragangliomas cells of the parasympathetic system. There are four kinds of paragangliomas: carotic artery baroreceptors (glomus caroticum), tympanic cavity (glomus tympanicum), internal jugular vein (glomus jugulare) and placed along vagal nerve (glomus vagale). Overall 5-10% of all paragangliomas are malignant. The bening lorms paragangliomas, of the originally numerous location are rare described. MATERIAL AND METHODS: The authors describe the rare case of 24 yrs old male, of the bening form paraganglioma of the originally numerous location - glomus tympanicum on the left site, glomus caroticum on the right site. RESULTS: The patient was successfuly treated surgicaly. CONCLUSIONS: The first choice of treatment is surgery. The diagnosis of a suspected paraganglioma can be confirmed with USG, CT, Angio CT, Angiography and MRI. Radiation therapy may be usefull in those cases in which the residual tumor was known to be left.