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Rare Tumors Jun 2010Paragangliomas are rare tumors and very few cases of malignant vagal paraganglioma with synchronous carotid body paraganglioma have been reported. We report a case of a...
Paragangliomas are rare tumors and very few cases of malignant vagal paraganglioma with synchronous carotid body paraganglioma have been reported. We report a case of a 20-year old male who presented with slow growing bilateral neck masses of eight years duration. He had symptoms of dysphagia to solids, occasional mouth breathing and hoarseness of voice. Fine needle aspiration cytology (FNAC) performed where he lived showed a sinus histiocytosis and he was administered anti-tubercular treatment for six months without any improvement in his symptoms. His physical examination revealed pulsatile, soft to firm, non-tender swellings over the anterolateral neck confined to the upper-mid jugulo-diagastric region on both sides. Direct laryngoscopy examination revealed a bulge on the posterior pharyngeal wall and another over the right lateral pharyngeal wall. Magnetic resonance imaging (MRI), 99mTc-labeled octreotide scan and angiography diagnosed the swellings as carotid body paraganglioma, stage III on the right side with left-sided vagal malignant paraganglioma. Surgery was ruled out as a high morbidity with additional risk to life was expected due to the highly vascular nature of the tumor. The patient was treated with radiation therapy by image guided radiation to a dose of 5040cGy in 28 fractions. At a follow-up at 16 months, the tumors have regressed bilaterally and the patient can take solids with ease.
PubMed: 21139824
DOI: 10.4081/rt.2010.e21 -
BMC Medical Genetics Jun 2010Germline mutations of the succinate dehydrogenase subunit B gene (SDHB) predispose carriers for paragangliomas, and current estimates of the chance of mutation carriers...
BACKGROUND
Germline mutations of the succinate dehydrogenase subunit B gene (SDHB) predispose carriers for paragangliomas, and current estimates of the chance of mutation carriers actually developing tumors (penetrance) are high. We evaluate the phenotype and penetrance of a germline SDHB mutation in a large and clinically well-characterized paraganglioma family.
METHODS
Following identification of the mutation in a 31 year old index-patient, extensive clinical screening was performed in mutation carriers to evaluate the presence of head and neck, thoracic and abdominal paragangliomas. Presymptomatic DNA testing was performed in 19 family members.
RESULTS
DNA analysis detected 14 further SDHB mutation carriers. Three mutation carriers (median age 78 years) declined clinical surveillance, but had no clinical signs or symptoms associated with paragangliomas. The remaining 11 mutation carriers (mean age 53, range 37-76 years) consented to clinical screening. In only two, aged 43 and 48 years, were subclinical vagal paragangliomas identified.
CONCLUSIONS
Only three of the fifteen mutation carriers in this family have developed paraganglioma, which results in a calculated penetrance of 26% at 48 years of age. This figure is lower than current estimates, and we conclude that the co-operation of this family allowed an almost complete attainment of mutation carriers, and the extensive clinical evaluation carried out allowed us to identify all affected individuals.
Topics: Genes; Germ-Line Mutation; Humans; Mutation; Paraganglioma; Paraganglioma, Extra-Adrenal; Penetrance; Phenotype; Succinate Dehydrogenase
PubMed: 20540712
DOI: 10.1186/1471-2350-11-92 -
Cellular Oncology : the Official... Jan 2010Head and neck paraganglioma (PGL) are benign tumors that can cause important direct or surgery induced morbidity. Almost all familial and 11-29% of sporadic PGL are...
BACKGROUND
Head and neck paraganglioma (PGL) are benign tumors that can cause important direct or surgery induced morbidity. Almost all familial and 11-29% of sporadic PGL are caused by inactivating germline mutations in succinate dehydrogenase (SDH) genes. Our aim was to screen for such mutations and to evaluate clinical parameters as predictors of germline mutation.
METHODS
Seventy-four PGL patients were analyzed for germline mutations and large deletions in SDH genes, VHL and RET. Results were correlated to clinical characteristics including gender, age, tumor localization and multifocality. The surgical approach was evaluated in terms of tumor origin, sequelae and subsequent evolution.
RESULTS
Mutations in SDHB and SDHD were identified in equal proportion in 13/13 (100%) of familial and in 15/61 (25%) of sporadic cases. Familiarity, age < or =50 years and male gender were predictors of any germline mutation, while multifocality and carotid/vagal localization were indicative of SDHD mutation in particular.
CONCLUSION
In contrast to other series, this cohort of Spanish patients showed many SDHB mutations. Sporadic cases with germline mutation are frequent and underline the importance of mutational screening of all PGL patients, allowing the identification of relatives at risk and the early diagnosis of the disease, reducing or avoiding morbidity.
Topics: Adolescent; Adult; Age Factors; Aged; DNA Mutational Analysis; Early Detection of Cancer; Female; Genetic Predisposition to Disease; Germ-Line Mutation; Head and Neck Neoplasms; Humans; Male; Middle Aged; Paraganglioma; Pedigree; Predictive Value of Tests; Sex Factors; Spain; Succinate Dehydrogenase
PubMed: 20208144
DOI: 10.3233/CLO-2009-0498 -
Journal of Surgical Case Reports Aug 2010This teaching case report represents an unusual example of a neck mass in a previously healthy individual. The presence of a new neck mass is a relatively common head...
This teaching case report represents an unusual example of a neck mass in a previously healthy individual. The presence of a new neck mass is a relatively common head and neck problem and requires a full work up including a complete history and physical examination. With respect to our patient, thorough history taking, physical examinations and specific investigations led to the diagnosis of a malignant and functionally active paraganglioma. Vagal paraganglioma themselves are rare tumours and account for only 5-25% of all paragangliomas in the head and neck region. The presence of a malignant, functionally active, catecholamine-secreting paraganglioma is even rarer and accounts for only 1-3% of all reported glomus vagale tumours. This case report illustrates the need to carefully monitor all neck masses for changes in size, for any distortion to surrounding structures, and their given function.
PubMed: 24946328
DOI: 10.1093/jscr/2010.6.2 -
Acta Otorrinolaringologica Espanola Feb 2009Paragangliomas are rare tumors and most are benign: less than 10% show criteria for malignancy. In the head and neck, the main locations are carotid, jugulo-tympanic and... (Review)
Review
Paragangliomas are rare tumors and most are benign: less than 10% show criteria for malignancy. In the head and neck, the main locations are carotid, jugulo-tympanic and vagal. Surgery continues to be the mainstay of treatment but both external beam radiotherapy (EBRT) and stereotactic radiosurgery (SRS) have been shown to be effective therapeutic alternatives. EBRT requires large volumes to cover the lesion, while radiosurgery allows administration of a high dose in a smaller volume, with high precision, which should reduce the number of long-term complications. The results in terms of local control with both treatment modalities are good, as reflected in published series. The role of chemotherapy is restricted to malignant paragangliomas. The treatment used includes the combination of chemotherapy, which provides short-lasting responses, and the role of new molecular targets is currently being investigated. The present article reviews the indications and results of the non-surgical treatment of paragangliomas.
Topics: Head and Neck Neoplasms; Humans; Paraganglioma
PubMed: 19245783
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 -
Kulak Burun Bogaz Ihtisas Dergisi : KBB... 2008We evaluated patients who were treated for head and neck paragangliomas.
OBJECTIVES
We evaluated patients who were treated for head and neck paragangliomas.
PATIENTS AND METHODS
The study included 40 patients (25 females, 15 males; mean age 48 years; range 26 to 74 years) who were operated on for paragangliomas of the head and neck region between 1993 and 2007. Clinical findings, treatment modalities, and the results of treatment were evaluated.
RESULTS
The most common complaint was neck swelling (n=30), followed by tinnitus (n=7), hearing loss (n=6), imbalance (n=3), pain (n=2), hoarseness (n=2), and nasal obstruction (n=1). The mean duration of symptoms was 22 months. The most common paraganglioma was glomus caroticum (n=28) with a mean tumor diameter of 4.5 cm (range 2 to 12 cm). Urinary vanilmandelic acid concentration was measured in 24 patients and found above normal range in two patients. Octreotide scintigraphy was performed in 14 patients and femoral angiography was performed in 27 patients. Multicentric disease was present in one patient and one patient had bilateral involvement. Transcervical excision was the most common approach. Complications were as follows: transient facial nerve paresis (n=3), vagal nerve palsy (n=2), hypoglossal nerve palsy (n=2), permanent facial paralysis (n=1), bleeding (n=1), and total hearing loss (n=1). No recurrences were encountered during a mean follow-up of 71 months.
CONCLUSION
Preoperative evaluation of all patients with respect to catecholamine secretion and multicentric disease is important for choosing the proper treatment and preventing possible complications.
Topics: Adult; Aged; Catecholamines; Female; Head and Neck Neoplasms; Humans; Male; Middle Aged; Paraganglioma; Postoperative Complications; Radionuclide Imaging; Treatment Outcome; Vanilmandelic Acid
PubMed: 19293622
DOI: No ID Found -
Journal of Vascular and Interventional... Apr 2008Paragangliomas are tumors of neural crest origin commonly arising from the carotid body, vagal nerve, or jugular bulb. The definitive treatment for these tumors is...
BACKGROUND AND PURPOSE
Paragangliomas are tumors of neural crest origin commonly arising from the carotid body, vagal nerve, or jugular bulb. The definitive treatment for these tumors is surgical resection, often augmented with pre-operative embolization due their highly vascular nature. We present our experience examining the efficacy and safety of endovascular embolization of these rare tumors.
METHODS
A review of patient's diagnosed with paragangliomas who underwent pre-operative embolization over a 5-year period (2002-2007) was conducted. The tumor subtype, efficacy of embolization, method of embolization, and rate of complication were noted.
RESULTS
A total of 38 patients underwent selective arterial embolization of their paraganglioma using polyvinyl alcohol (PVA) particles ranging in size from 100-1000 microns. The tumor subtypes treated were carotid body (n = 20), glomus vagale (n = 10), and glomus jugulare (n = 8). The average age at presentation was 44 years (range, 15-81). Twenty-two patients were female and sixteen were male. The most common artery embolized was the ascending pharyngeal branch of the external carotid artery. Post-embolization angiography revealed an average decrease in blood flow to tumor of 75%. With the exception of transient facial pain documented in 1 patient, there were no known complications from embolization.
CONCLUSIONS
The endovascular embolization of paragangliomas using PVA prior to surgical resection is a very safe and efficacious procedure that may reduce operative blood loss and associated morbidity.
PubMed: 22518217
DOI: No ID Found -
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 -
Head and Neck Pathology Sep 2007
Topics: Carcinoma, Medullary; Carcinoma, Neuroendocrine; Carcinoma, Renal Cell; Cranial Nerve Neoplasms; Diagnosis, Differential; Hemangiopericytoma; Humans; Kidney Neoplasms; Paraganglioma; Sarcoma, Alveolar Soft Part; Thyroid Neoplasms; Tomography, X-Ray Computed; Vagus Nerve
PubMed: 20614279
DOI: 10.1007/s12105-007-0018-1