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Iranian Red Crescent Medical Journal Sep 2011
PubMed: 22737545
DOI: 10.5812/kowsar.20741804.2248 -
Clinics (Sao Paulo, Brazil) 2012Head and neck paragangliomas are tumors arising from specialized neural crest cells. Prominent locations are the carotid body along with the vagal, jugular, and tympanic... (Review)
Review
Head and neck paragangliomas are tumors arising from specialized neural crest cells. Prominent locations are the carotid body along with the vagal, jugular, and tympanic glomus. Head and neck paragangliomas are slowly growing tumors, with some carotid body tumors being reported to exist for many years as a painless lateral mass on the neck. Symptoms depend on the specific locations. In contrast to paraganglial tumors of the adrenals, abdomen and thorax, head and neck paragangliomas seldom release catecholamines and are hence rarely vasoactive. Petrous bone, jugular, and tympanic head and neck paragangliomas may cause hearing loss. The internationally accepted clinical classifications for carotid body tumors are based on the Shamblin Class I-III stages, which correspond to postoperative permanent side effects. For petrous-bone paragangliomas in the head and neck, the Fisch classification is used. Regarding the molecular genetics, head and neck paragangliomas have been associated with nine susceptibility genes: NF1, RET, VHL, SDHA, SDHB, SDHC, SDHD, SDHAF2 (SDH5), and TMEM127. Hereditary HNPs are mostly caused by mutations of the SDHD gene, but SDHB and SDHC mutations are not uncommon in such patients. Head and neck paragangliomas are rarely associated with mutations of VHL, RET, or NF1. The research on SDHA, SDHAF2 and TMEM127 is ongoing. Multiple head and neck paragangliomas are common in patients with SDHD mutations, while malignant head and neck paraganglioma is mostly seen in patients with SDHB mutations. The treatment of choice is surgical resection. Good postoperative results can be expected in carotid body tumors of Shamblin Class I and II, whereas operations on other carotid body tumors and other head and neck paragangliomas frequently result in deficits of the cranial nerves adjacent to the tumors. Slow growth and the tendency of hereditary head and neck paragangliomas to be multifocal may justify less aggressive treatment strategies.
Topics: Carotid Body Tumor; Genes, Neoplasm; Genetic Predisposition to Disease; Head and Neck Neoplasms; Humans; Neoplasm Staging; Paraganglioma; Skull Base Neoplasms
PubMed: 22584701
DOI: 10.6061/clinics/2012(sup01)05 -
Proceedings (Baylor University. Medical... Apr 2012
PubMed: 22481846
DOI: 10.1080/08998280.2012.11928813 -
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 -
Annals of the Royal College of Surgeons... Nov 2011Cervical paragangliomas are slow-growing tumours that eventually cause lower cranial nerve palsies and infiltrate the skull base. Surgical treatment may cause the same...
INTRODUCTION
Cervical paragangliomas are slow-growing tumours that eventually cause lower cranial nerve palsies and infiltrate the skull base. Surgical treatment may cause the same deficits and, in some, risks more serious neurological deficits. We describe a classification used to guide investigation, consent and management of cervical paragangliomas based on extensive experience.
METHODS
The case notes of patients managed by the senior author at a tertiary referral skull base unit between 1987 and 2010 were reviewed retrospectively. A total of 87 cervical paragangliomas were identified in 70 patients (mean age: 46 years, range: 13-77 years). Of these, 35 patients had 36 vagal paragangliomas, 43 patients had 50 carotid body paragangliomas and 8 had both. One cervical paraganglioma arose from neither the carotid body nor the nodose ganglion. The main outcome measures were death, stroke, gastrostomy and tracheotomy.
RESULTS
All tumours were classified pre-operatively based on their relationship to the carotid artery, skull base and lower cranial nerves. Type 1 tumours were excised with a transcervical approach, type 2 with a transcervical-parotid approach and type 3 with a combined transcervical-parotid and infratemporal fossa approach. Type 4 patients underwent careful assessment and genetic counselling before any treatment was undertaken. There were no peri-operative deaths; two patients had strokes, one required a long-term feeding gastrostomy and none required a tracheotomy.
CONCLUSIONS
The use of a pre-operative classification system guides management and surgical approach, improves accuracy of consent, facilitates audit and clarifies which patients should be referred to specialised centres.
Topics: Adolescent; Adult; Aged; Facial Pain; Female; Head and Neck Neoplasms; Humans; Male; Middle Aged; Paraganglioma; Paralysis; Postoperative Complications; Retrospective Studies; Treatment Outcome; Young Adult
PubMed: 22041235
DOI: 10.1308/147870811X13137608455172 -
Skull Base : Official Journal of North... Nov 2010We report a case of functional vagal paraganglioma to illustrate the biochemical and radiological imaging tests important in diagnosis and to highlight the importance of...
We report a case of functional vagal paraganglioma to illustrate the biochemical and radiological imaging tests important in diagnosis and to highlight the importance of a multidisciplinary team approach to manage the preoperative, perioperative, and postoperative effects of catecholamine secretion from these tumors.
PubMed: 21772811
DOI: 10.1055/s-0030-1266761 -
Clinical Cancer Research : An Official... Jan 2011Hereditary head and neck paraganglioma (HNPGL) syndromes are associated with mutations in the SDHD(PGL1), SDHC(PGL3), and SDHB(PGL4) genes encoding succinate...
PURPOSE
Hereditary head and neck paraganglioma (HNPGL) syndromes are associated with mutations in the SDHD(PGL1), SDHC(PGL3), and SDHB(PGL4) genes encoding succinate dehydrogenase subunits. We recently described mutations in a previously uncharacterized human gene, now called SDHAF2, and showed that this was the long-sought "imprinted" PGL2 gene. Here, we present a new branch of the Dutch SDHAF2 (PLG2-SDH5) family.
EXPERIMENTAL DESIGN
The SDHAF2 family has been collected over a 30-year period. The family described here was linked to PGL2 and at-risk family members were invited to participate in this study. Patients were investigated and treated dependent on tumor size and localization. All family members have now been analyzed for the SDHAF2 mutation status.
RESULTS
Among the 57 family members, 23 were linkage positive including 7 risk-free carriers (maternal imprinting). Of the 16 at-risk individuals, 11 had a total of 24 tumors with primarily carotid (71%) and vagal locations (17%). Multifocality of tumors was prominent (91%). Malignancy was not detected. The average age at onset was 33 years, and many patients (42%) were asymptomatic prior to screening. SDHAF2 mutation analysis confirmed the findings of the previously performed linkage analysis without detection of discrepancies.
CONCLUSIONS
We established the SDHAF2 mutation status of PGL2 family members. Phenotypic characterization of this family confirms the currently exclusive association of SDHAF2 mutations with HNPGL. This SDHAF2 family branch shows a young age at onset and very high levels of multifocality. A high percentage of patients were asymptomatic at time of detection.
Topics: Adult; Female; Genotype; Head and Neck Neoplasms; Humans; Male; Middle Aged; Mutation; Neoplastic Syndromes, Hereditary; Paraganglioma; Pedigree; Protein Subunits; Succinate Dehydrogenase
PubMed: 21224366
DOI: 10.1158/1078-0432.CCR-10-0420 -
Journal of Surgical Case Reports Feb 2011Carotid body tumours cause characteristic splaying of the internal and external carotid arteries, known as 'Lyre Sign'. Vagal paragangliomas are rare tumours that arise...
Carotid body tumours cause characteristic splaying of the internal and external carotid arteries, known as 'Lyre Sign'. Vagal paragangliomas are rare tumours that arise from glomus cells along the length of the vagus nerve. We present a case in which a vagal paraganglioma has arisen from the vagus nerve at the carotid bifurcation, and has mimicked the 'Lyre Sign' of a carotid body tumour.
PubMed: 24950557
DOI: 10.1093/jscr/2011.2.2 -
GMS Current Topics in... 2011Paragangliomas are rare tumors of neural crest origin. They are benign in the majority of cases and are characterized by a strong vascularisation.In the head and neck...
Paragangliomas are rare tumors of neural crest origin. They are benign in the majority of cases and are characterized by a strong vascularisation.In the head and neck region they most commonly occur as carotid body tumors. Jugulotympanic and especially vagal paragangliomas are seen less frequently. Complete surgical resection represents the only curative treatment option even though resection of locally advanced tumors regularly results in lesions of the lower cranial nerves and major vessels. Appoximately 30% of all head and neck paragangliomas (HNPs) are hereditary and associated with different tumor syndromes. The paraganglioma syndromes 1, 3 and 4 (PGL 1, 3 and 4) make up the majority of those familial cases. PGL 1 is associated with mutations of the succinate dehydrogenase subunit D (SDHD) gene, PGL 3 is caused by SDHC and PGL 4 by SDHB gene mutations. Multiple HNPs and the occurance of HNPs together with pheochromocytomas are seen in SDHD as well as SDHB mutation carriers. In patients with SDHB mutations the risk for the development of malignant paraganglial tumors is significantly higher compared to SDHC and SDHD patients as well as patients with sporadic tumors. SDHC mutation carriers almost exclusively present with benign HNP that are unifocal in the majority of cases. The role of transmission is autosomal dominant for all three symptoms. Interestingly, there is a "parent-of-origin-dependent-inheritance" in subjects with SDHD gene mutations. This means that the disease phenotype may only become present if the mutation is inherited through the paternal line. We recommend screening for mutations of the genes SDHB, SDHC and SDHD in patients with HNPs. Certain clinical parameters can help to set up the order in which the three genes should be tested.
PubMed: 22558053
DOI: 10.3205/cto000076 -
Journal of Vascular Surgery Dec 2010Our objective was to assess the short- and long-term outcome for patients after carotid body tumor (CBT) resection and discuss the potential pitfalls of the treatment.
OBJECTIVES
Our objective was to assess the short- and long-term outcome for patients after carotid body tumor (CBT) resection and discuss the potential pitfalls of the treatment.
METHODS
An analysis was undertaken of all patients who underwent CBT resection at Royal Brisbane and Women's Hospital and Greenslopes Private Hospital between 1982 and 2007. Primary tumor characteristics, surgical technique, and outcomes were recorded and analyzed.
RESULTS
A total of 49 consecutive CBT resections (2 recurrent tumors) were carried out in 39 patients (26 women [56%]) who were a mean age of 49 years (range, 17-75 years). A nontender neck mass was the presenting complaint in 85%, followed by screening in familial or contralateral tumors in 26%. Familial cases occurred in 11 patients (28%). There were no operative deaths. Complications occurred in 13 of the 49 operations (27%), predominantly temporary nerve palsies and were more likely to occur in tumors of large volume or in cases of removal of coexisting vagal tumors. Malignant disease was present in seven cases (15%). All patients have been followed-up postoperatively for a mean of 11 years (range, 2-26 years). Metachronous paragangliomas have been discovered in six patients, all with familial disease.
CONCLUSIONS
Early resection of carotid body tumors should be undertaken while still small to minimize the risk of neural injury, which increases with tumor size. In cases of bilateral CBT, we recommend that the smaller tumor be resected first, before the staged resection of the larger contralateral tumor. In familial or bilateral tumor cases, other synchronous and metachronous paragangliomas should be excluded. Mandatory lifelong follow-up is essential.
Topics: Adolescent; Adult; Aged; Carotid Body Tumor; Female; Humans; Male; Middle Aged; Neoplasm Recurrence, Local; Young Adult
PubMed: 21146747
DOI: 10.1016/j.jvs.2010.06.153