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Polish Journal of Radiology 2016Hereditary head and neck paragangliomas (HNP) are very often associated with pheochromocytoma-paraganglioma syndromes, which are caused by mutations in genes encoding...
BACKGROUND
Hereditary head and neck paragangliomas (HNP) are very often associated with pheochromocytoma-paraganglioma syndromes, which are caused by mutations in genes encoding subunits of succinate dehydrogenase () complex. The aim of this study was to determine the frequency and location of HNP among SDHx carriers.
MATERIAL/METHODS
A total of 72 patients with mutations underwent computed tomography examinations of the head and neck. HNP were present in 44 (61.1%) out of 72 patients (31 , 11 , 2 ); 113 HNP were found; the most common were carotid paragangliomas (59) and vagal paragangliomas (27).
RESULTS
The HNP were statistically more frequent in carriers of mutations compared to carriers of mutations (72.1% 43.5%, p=0.033). Multiple tumors more often occurred in patients with mutations 26/31 (83.9%) than in patients with mutations 6/11 (54.5%) p=0.05. There was a significant difference in the prevalence of carotid paragangliomas between patients with and mutations (7/11 [63.6%] 30/31 [96.8%], respectively, p=0.004). Patients with mutations more often had carotid paragangliomas located on the left side than on the right side, as compared to mutations 25/31 (80.6%) 4/11 (36.4%), p=0.006.
CONCLUSIONS
mutations predispose to multifocal and bilateral HNP. Carotid and vagal paragangliomas occurred most often. Patients with mutations are characterized by higher frequency of HNP than patients with mutations, which is mainly driven by higher frequency of carotid body tumors in patients with mutations. No difference in the frequency of head and neck paragangliomas in other locations was found.
PubMed: 27867439
DOI: 10.12659/PJR.897490 -
Acta Otorhinolaryngologica Italica :... Jun 2007Two uncommon cases of paragangliomas arising from the vagus nerve are described. The first patient underwent surgery for suspected carotid body tumour. In the second...
Two uncommon cases of paragangliomas arising from the vagus nerve are described. The first patient underwent surgery for suspected carotid body tumour. In the second patient, computed tomography scan and digital angiography allowed a correct pre-operative diagnosis to be made. These cases confirm the prevalence of vagal paragangliomas in female sex and middle age, and the possibility of multiple similar tumours in the same patient. Histological benign features, absence of neurological symptoms, of local invasion or intracranial extension confirm the frequent benign behaviour of these neoplasms. Lack of catecholamine secretion confirms the low incidence of functioning tumours. Contrast computed tomography and digital angiography still remain the gold standard reliable instruments for diagnosis despite the success of magnetic resonance imaging, magnetic resonance angiography and octreotide scintigraphy to detect head and neck paragangliomas. A transcervical approach, without mandibulotomy, is suitable too for large tumours but complete removal, with sparing of involved segments of the vagus nerve, is rarely possible. Post-operative neurological morbidity is still an unsolved issue and, therefore, rehabilitation of deglutition and phonation is an integral part of management.
Topics: Cerebral Angiography; Female; Humans; Middle Aged; Paraganglioma; Peripheral Nervous System Neoplasms; Tomography, X-Ray Computed; Vagus Nerve
PubMed: 17883192
DOI: No ID Found -
Acta Otorrinolaringologica Espanola Feb 2009Vagal paragangliomas are much less frequent than carotid and jugulo-tympanic paragangliomas and, like these other forms, can be sporadic or familial. The familial forms...
Vagal paragangliomas are much less frequent than carotid and jugulo-tympanic paragangliomas and, like these other forms, can be sporadic or familial. The familial forms usually occur as isolated tumors or within syndromic entities such as multiple endocrine neoplasia type IIA-B, Von Hippel- Lindau syndrome and neurofibromatosis type 1. The genes causing the disease are located in three loci: SDHD (11q23), SDHC (1q21) and SDHB (1p36.1p35). Approximately one-third of apparently sporadic paragangliomas also show germline SDH mutations. In familial forms, the rate of multicentric tumors is up to 30-40%. Vagal paragangliomas arise from arise from paraganglia associated with the vagus nerve. Lower cranial nerve deficits are frequently observed. An essential feature in the diagnosis of vagal paraganglioma is that they are situated behind the internal carotid artery. The treatment of vagal paraganglioma should be based on the biological behavior of the tumor, the age and health status of the patient, tumoral size and the possible treatment-associated morbidity. Surgery is important in the treatment of vagal paraganglioma but this option is controversial in patients without lower cranial nerve palsy. The approach of choice is usually cervical or transcervical. If the tumor involves the jugular fossa, in addition to the cervical approach, a transpetrous approach is also required. Expectant management and radiotherapy are often valid options.
Topics: Aortic Bodies; Humans; Paraganglioma; Surgical Procedures, Operative
PubMed: 19245780
DOI: No ID Found -
Skull Base : Official Journal of North... May 2011We reviewed the postoperative functional outcome following surgical resection of paragangliomas in patients with and without preoperative cranial nerve dysfunction....
We reviewed the postoperative functional outcome following surgical resection of paragangliomas in patients with and without preoperative cranial nerve dysfunction. Patients who underwent surgical resections of head and neck paragangliomas were reviewed with functional outcomes defined as feeding tube and/or tracheostomy dependence, need for vocal cord medialization, and incidence of cerebral vascular accidents as primary end points. Secondary end points included pre- and postoperative function of lower cranial nerves and the impact of this dysfunction on long-term functional status. Sixty-one patients were identified: 27 with carotid paraganglioma (CP), 21 with jugular paraganglioma (JP), 8 with tympanic paragangliomas, 4 with vagal paragangliomas (VPs), and 1 with aortopulmonary paraganglioma. Following resection, 8 patients were feeding tube dependent, 14 patients required vocal cord medialization, 2 patients suffered strokes, but no patients required tracheostomy tubes. Twenty percent of patients (4/20) with JP and postoperative cranial neuropathies were feeding tube dependent, and 80% of patients (4/5) with CP and postoperative cranial nerve dysfunction were feeding tube dependent. Cranial nerve deficits were more common in patients with JP relative to those with CP. However, when cranial nerve dysfunction was present, our patients with CP had a higher incidence of temporary feeding tube dependence. Overall, 98% of patients were able to resume oral nutrition.
PubMed: 22451821
DOI: 10.1055/s-0031-1275251 -
The New England Journal of Medicine Nov 1990A number of different tumors have receptors for somatostatin. We evaluated the efficacy of scanning with 123I-labeled Tyr3-octreotide, a somatostatin analogue, for tumor...
BACKGROUND AND METHODS
A number of different tumors have receptors for somatostatin. We evaluated the efficacy of scanning with 123I-labeled Tyr3-octreotide, a somatostatin analogue, for tumor localization in 42 patients with carcinoid tumors, pancreatic endocrine tumors, or paragangliomas. We then evaluated the response to octreotide therapy in some of these patients.
RESULTS
Primary tumors or metastases, often previously unrecognized, were visualized in 12 of 13 patients with carcinoid tumors and in 7 of 9 patients with pancreatic endocrine tumors. The endocrine symptoms of these patients responded well to therapy with octreotide. Among 20 patients with paragangliomas, 8 of whom had more than one tumor, 10 temporal (tympanic or jugular), 9 carotid, and 10 vagal tumors could be visualized. One small tympanic tumor and one small carotid tumor were not seen on the scan.
CONCLUSIONS
The 123I-labeled Tyr3-octreotide scanning technique is a rapid and safe procedure for the visualization of some tumors with somatostatin receptors. A positive scan may predict the ability of octreotide therapy to control symptoms of hormonal hypersecretion.
Topics: Adenoma, Islet Cell; Adolescent; Adult; Aged; Aged, 80 and over; Carcinoid Tumor; Female; Humans; Iodine Radioisotopes; Male; Middle Aged; Octreotide; Pancreatic Neoplasms; Paraganglioma; Receptors, Neurotransmitter; Receptors, Somatostatin; Tomography, Emission-Computed
PubMed: 2170840
DOI: 10.1056/NEJM199011013231805 -
International Cancer Conference Journal Jan 2022Carotid body tumor involving the succinate dehydrogenase subunit B (SDHB) variant reportedly had a higher frequency of metastasis than other variants of succinate...
UNLABELLED
Carotid body tumor involving the succinate dehydrogenase subunit B (SDHB) variant reportedly had a higher frequency of metastasis than other variants of succinate dehydrogenase. However, the correlation between genotype and phenotype among patients with carotid body tumor with gene variant remains unclear. Thus, we present a case of carotid body tumor with neck lymph metastasis caused by a novel variant, which resulted in long-term disease-free survival achieved after surgery. A 43-year-old man presented to our hospital with a 2-year history of a painless neck mass. Based on the radiographic findings, the patient was diagnosed with carotid body tumor with a possible Shamblin type III tumor. Another mass was detected and suspected to be a lymph node metastasis. The patient underwent resection of the tumor and lymph nodes. The common carotid artery, internal carotid artery, external carotid artery, internal jugular vein, vagal nerve, and hypoglossal nerve were resected with the tumor. Histopathological examination revealed a paraganglioma. The histological findings of the lymph nodes were similar to those of the carotid body tumor and were confirmed to be metastases of paraganglioma. To analyze the germline variant, a nonsense variant was detected in the gene at exon 2, c. 136C > T, p. Arg46*. During the follow-up 80 months after surgery, the patient exhibited no signs of recurrence, metastasis, or development of paragangliomas in other organs. This was the first case of carotid body tumor accompanied by neck metastasis caused by a germline nonsense variant at exon 2, c. 136C > T, p. Arg46*. Carotid body tumor with neck lymph metastasis caused by this nonsense variant could achieve long-term disease-free survival after surgery. Gene analysis, including variant, should be performed to predict the prognosis and future risk of metastasis. Genetic testing of may give a crucial information for the treatment and follow-up strategies of carotid body tumor.
SUPPLEMENTARY INFORMATION
The online version contains supplementary material available at 10.1007/s13691-021-00522-x.
PubMed: 35127314
DOI: 10.1007/s13691-021-00522-x -
Journal of Vascular Surgery Feb 2013Carotid body tumors are considered rare. However, there has been an increase in the number of these tumors managed at our center in recent years. Delayed presentation...
OBJECTIVE
Carotid body tumors are considered rare. However, there has been an increase in the number of these tumors managed at our center in recent years. Delayed presentation with large tumors is common. We studied the clinical profile, interventions, and outcomes of these tumors and assessed the factors influencing operative neurological morbidity and recurrence.
METHODS
This retrospective study was conducted at the Christian Medical College in Vellore, a tertiary care center in south India. We analyzed the inpatient and outpatient records of patients diagnosed to have carotid body tumors undergoing excision from January 1, 2005 to December 31, 2011. Patients diagnosed to have vagal paragangliomas were excluded.
RESULTS
Thirty-four of 48 tumors were excised from 32 patients (11 female, 21 male). Average age at presentation was 38.2 years, and three patients had familial bilateral tumors. All patients presented with a painless neck mass. There were 27 Shamblin group III, six Shamblin group II, and one Shamblin group I tumor. Eleven Shamblin group II/III tumors were associated with transient cranial nerve palsy or paresis (32.3%). Two Shamblin group III tumors were associated with perioperative stroke (5.8%). Preoperative embolization was done in 17 tumors, 12 of which were associated with neurological complications (two stroke, nine nerve palsy, one hemianopia). One patient underwent thrombolysis for a middle cerebral artery thrombus and recovered completely on follow-up, and another with a capsuloganglionic infarct managed conservatively had minimal persistent disability. Three patients had persistent nerve palsy (8.8%). Although complications were more common in patients with higher Shamblin group tumors, the difference was not statistically significant.
CONCLUSIONS
The overall rate of neurological complications is higher with tumors of higher Shamblin groups. Preoperative embolization was not effective in reducing neurological complications. The rates of postoperative stroke and permanent cranial nerve palsy after resection of large tumors are acceptable.
Topics: Adult; Carotid Body Tumor; Chi-Square Distribution; Cranial Nerve Diseases; Embolization, Therapeutic; Female; Humans; India; Male; Nervous System Diseases; Retrospective Studies; Stroke; Time Factors; Treatment Outcome; Tumor Burden; Vascular Surgical Procedures
PubMed: 23336858
DOI: 10.1016/j.jvs.2012.06.114 -
Acta Otorrinolaringologica Espanola Mar 2007To review imaging features of paragangliomas. To determine the usefulness of pre-operative embolization.
OBJECTIVES
To review imaging features of paragangliomas. To determine the usefulness of pre-operative embolization.
MATERIAL AND METHOD
From January 1994 to December 2004, 30 patients at our institution were found to have 33 paragangliomas of the head and neck. They were evaluated with US, CT, MRI, and angiography.
RESULTS
Location distribution was: 16 carotid (1 case of bilateral and 2 of multi-centric presentation are reported), 14 in temporal bone, and 3 vagal. Embolization was performed in 22 cases. It was palliative in 2 cases and adjuvant to surgery (18) or to surgery and radiation therapy (2), resulting in a reduction of surgical complications. Eight patients were operated on and 3 rejected any treatment.
CONCLUSIONS
Imaging studies are essential in the differential diagnosis of head and neck masses. Pre-operative embolization is a major advance in the surgical management of paragangliomas because it decreases potential intra-operative bleeding.
Topics: Carotid Body Tumor; Embolization, Therapeutic; Female; Head and Neck Neoplasms; Humans; Magnetic Resonance Imaging; Male; Middle Aged
PubMed: 17371690
DOI: No ID Found -
Head & Neck Jun 2019F-FDOPA PET/CT was proved to be a highly sensitive imaging method for detecting head and neck paraganglioma (HNPGL). The primary aim of the study was to evaluate the...
BACKGROUND
F-FDOPA PET/CT was proved to be a highly sensitive imaging method for detecting head and neck paraganglioma (HNPGL). The primary aim of the study was to evaluate the relationship between tumor characteristics and the SDHx-mutational status in a large series of patients with HNPGL evaluated by F-FDOPA PET/CT.
METHODS
A total of 104 patients with HNPGL (65 sporadic/39 SDHx-mutated) were included.
RESULTS
In comparison to SDHB/SDC/SDHx-negative cases, patients with SDHD were younger at diagnosis and had a higher rate of multifocal, vagal, and carotid paraganglioma. In patients with SDHD, vagal paraganglia represented the primary site of tumor origin. Multicentric involvement of the vagus nerve alone or in association with other locations was found to be a typical feature of SDHD cases compared to other cases (odds ratio = 59.4).
CONCLUSION
The present study shows that tumor multifocality within the vagus nerve is a phenotypic marker of SDHD mutation. This information is essential in the choice of the therapeutic strategy.
Topics: Age Factors; Cranial Nerve Neoplasms; Dihydroxyphenylalanine; Female; Fluorine Radioisotopes; Head and Neck Neoplasms; Heterozygote; Humans; Male; Middle Aged; Mutation; Neoplasms, Multiple Primary; Paraganglioma, Extra-Adrenal; Phenotype; Positron Emission Tomography Computed Tomography; Retrospective Studies; Succinate Dehydrogenase; Vagus Nerve; Vagus Nerve Diseases
PubMed: 30584686
DOI: 10.1002/hed.25604 -
AJNR. American Journal of Neuroradiology Oct 2004Substantial intraoperative bleeding during surgical removal of head and neck paragangliomas may be a major problem in the management of these highly vascularized tumors....
BACKGROUND AND PURPOSE
Substantial intraoperative bleeding during surgical removal of head and neck paragangliomas may be a major problem in the management of these highly vascularized tumors. Traditional preoperative embolization via a transarterial approach has proved beneficial but is often limited by complex vascular anatomy and unfavorable locations. We report our experience with the preoperative devascularization of head and neck paragangliomas by using direct puncture and an intralesional injection of cyanoacrylate.
METHODS
We retrospectively analyzed nine consecutive patients with head and neck paragangliomas who were referred for preoperative devascularization. Three patients were treated for carotid-body tumors; two for vagal lesions; and four, for jugular paragangliomas. Direct puncture of the lesion was performed by using roadmap fluoroscopic guidance. Acrylic glue was injected by using continuous biplane fluoroscopy. All patients underwent postembolization control angiography and immediate postoperative CT scanning.
RESULTS
Angiograms showed that complete devascularization was achieved in all cervical glomus tumors, whereas subtotal devascularization was achieved in jugular paragangliomas. In this latter location, the injection of acrylic glue was limited by the potential risk of reflux into normal brain territory via feeders from the internal carotid or vertebral artery. The tumors were surgically removed and histologically examined. No technical or clinical complications related to the embolization procedure occurred.
CONCLUSION
Percutaneous puncture of paragangliomas in the head and neck region and their preoperative devascularization by intralesional injection of acrylic glue is a feasible, safe, and effective technique.
Topics: Adolescent; Adult; Aged; Angiography; Aortic Bodies; Carotid Body; Carotid Body Tumor; Combined Modality Therapy; Cyanoacrylates; Embolization, Therapeutic; Feasibility Studies; Female; Glomus Jugulare Tumor; Head and Neck Neoplasms; Humans; Injections, Intralesional; Male; Middle Aged; Neurologic Examination; Paraganglioma; Paraganglioma, Extra-Adrenal; Punctures; Retrospective Studies; Treatment Outcome
PubMed: 15502121
DOI: No ID Found