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OTO Open 2024High-altitude natives have a high incidence of parangangliomas (PGL) of the head and neck, especially the carotid body tumor. The aim of this study is to describe the...
OBJECTIVES
High-altitude natives have a high incidence of parangangliomas (PGL) of the head and neck, especially the carotid body tumor. The aim of this study is to describe the clinical presentation, pattern, altitude of residence, distribution, management, and follow-up of head and neck paragangliomas (HNPGL) in our sub-Himalayan population.
STUDY DESIGN
Retrospective cohort study.
SETTING
Academic tertiary care hospital.
METHODS
Hospital records of 20 patients of HNPGL diagnosed from December 2017 to December 2021 were retrieved for analysis.
RESULTS
Twenty patients with 23 HNPGL, with a mean age of 41.74 years were managed in our institute. The female-to-male ratio was 2.3: 1 and the mean follow-up was 29.95 months. Nine had carotid body (CBPGL), 7 had tympanic (TPGL), 2 had jugular (JPGL), and 2 had vagal paragangliomas (VPGL). Multiple PGL were seen in 4 patients (20%). Majority of cases (all CBPGL and 57.14% of TPGL) were residents of the high altitude, and the rest were from the low altitude. Fifteen patients (8 CBPGL, 7 TPGL) were operated. There were no major complications except in a patient with large carotid body tumor required anastomosis of carotid artery. Five patients received stereotactic radiotherapy, and 1 malignant PGL received chemoradiotherapy.
CONCLUSION
In this study, JPGL and VPGL are common at low altitudes, whereas carotid body and tympanic PGL were the most common tumor at high altitudes. Being a retrospective and study small sample size, a definite conclusion is not established, however, a genetic analysis and inclusion of a wider population in a future prospective study may establish the hypothesis.
PubMed: 38357702
DOI: 10.1002/oto2.112 -
BMC Medical Genomics Sep 2020Vagal paragangliomas (VPGLs) belong to a group of rare head and neck neuroendocrine tumors. VPGLs arise from the vagus nerve and are less common than carotid...
BACKGROUND
Vagal paragangliomas (VPGLs) belong to a group of rare head and neck neuroendocrine tumors. VPGLs arise from the vagus nerve and are less common than carotid paragangliomas. Both diagnostics and therapy of the tumors raise significant challenges. Besides, the genetic and molecular mechanisms behind VPGL pathogenesis are poorly understood.
METHODS
The collection of VPGLs obtained from 8 patients of Russian population was used in the study. Exome library preparation and high-throughput sequencing of VPGLs were performed using an Illumina technology.
RESULTS
Based on exome analysis, we identified pathogenic/likely pathogenic variants of the SDHx genes, frequently mutated in paragangliomas/pheochromocytomas. SDHB variants were found in three patients, whereas SDHD was mutated in two cases. Moreover, likely pathogenic missense variants were also detected in SDHAF3 and SDHAF4 genes encoding for assembly factors for the succinate dehydrogenase (SDH) complex. In a patient, we found a novel variant of the IDH2 gene that was predicted as pathogenic by a series of algorithms used (such as SIFT, PolyPhen2, FATHMM, MutationTaster, and LRT). Additionally, pathogenic/likely pathogenic variants were determined for several genes, including novel genes and some genes previously reported as associated with different types of tumors.
CONCLUSIONS
Results indicate a high heterogeneity among VPGLs, however, it seems that driver events in most cases are associated with mutations in the SDHx genes and SDH assembly factor-coding genes that lead to disruptions in the SDH complex.
Topics: Adult; Aged; Cranial Nerve Neoplasms; DNA Mutational Analysis; Female; High-Throughput Nucleotide Sequencing; Humans; Middle Aged; Mutation; Paraganglioma; Succinate Dehydrogenase; Vagus Nerve Diseases
PubMed: 32948195
DOI: 10.1186/s12920-020-00763-4 -
Interventional Neuroradiology : Journal... Jun 2002Head and neck paragangliomas are highly vascular tumors with variable clinical behavior. The goal of this paper is to determine specific clinical and radiological...
Head and neck paragangliomas are highly vascular tumors with variable clinical behavior. The goal of this paper is to determine specific clinical and radiological findings and extract from these findings a treatment algorithm. Twenty-three patients with paragangliomas were referred from different surgical centers for angiography and pre-operative embolization. Clinical records were analyzed retrospectively, and focused on impairment of cranial nerves. Angiographic features of paragangliomas, such as arterial supply, tumor flow characteristics, and venous drainage, were evaluated to find characteristic angioarchitectural patterns. All but one patient presented with a single tumor. All eight jugular and four of five vagal paragangliomas caused a lower cranial nerve deficit. Tympanic paragangliomas presented with hearing loss and tinnitus. The ascending pharyngeal artery was the main feeder and contributed to the supply in every tumor. Jugular and vagal paragangliomas typically compromise the patency of the jugular vein with resulting antegrade or retrograde flow through collateral venous systems. Surgical resection of vagal and jugular paragangliomas was especially performed when unifocal paragangliomas were present. In all of these patients, the tumor caused a cranial nerve deficit. The supply from an enlarged ascending pharyngeal artery is typical for paragangliomas. The venous drainage pattern of jugular and vagal paragangliomas allows differentiation from other vascular lesions at the skull base.
PubMed: 20594521
DOI: 10.1177/159101990200800204 -
Ear, Nose, & Throat Journal Aug 2014Paragangliomas are uncommon tumors that arise from the parasympathetic neuroectodermal ganglionic cells and have been described in numerous anatomic locations, most...
Paragangliomas are uncommon tumors that arise from the parasympathetic neuroectodermal ganglionic cells and have been described in numerous anatomic locations, most commonly in the abdomen. Head and neck paragangliomas are classified into carotid body (most common), vagal, and jugulotympanic types. Computed tomography is the initial imaging modality of choice for the preoperative assessment of the extent of paragangliomas. Magnetic resonance imaging and selective angiography provide more detail of the surrounding tissues and vasculature. Surgical resection is the treatment of choice.
Topics: Female; Head and Neck Neoplasms; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Paraganglioma; Tomography, X-Ray Computed
PubMed: 25181670
DOI: 10.1177/014556131409300822 -
Vascular Specialist International Jun 2019Vagal paragangliomas (VPGLs) represent <5% of all head and neck paragangliomas (PGLs) and show a 17% to 20% risk of malignancy. We present a rare case of a 50-year-old...
Vagal paragangliomas (VPGLs) represent <5% of all head and neck paragangliomas (PGLs) and show a 17% to 20% risk of malignancy. We present a rare case of a 50-year-old gender with a left VPGL in her neck. To date, approximately 200 cases have been reported. The tumor showed web-like adhesions and arterial supply from the external carotid artery. We performed en bloc resection including a part of the vagus nerve. The superior laryngeal nerve was preserved with the "human communicating nerve" which maintains neural communication in >70% of humans, providing motor fibers to the larynx. The patient recovered uneventfully and was discharged on the 3rd postoperative day. These tumors are therapeutically challenging owing to their proximity to vital neck and skull base structures. Early detection decreases surgical morbidity and mortality. Preservation of viable neural tissue is important in advanced disease.
PubMed: 31297361
DOI: 10.5758/vsi.2019.35.2.105 -
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 -
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 -
Intractable & Rare Diseases Research Aug 2012Carotid body tumour is a rare disease, a slow growing highly vascular tumour of the carotid body tissue and the most common type of the paraganglioma. This article... (Review)
Review
Carotid body tumour is a rare disease, a slow growing highly vascular tumour of the carotid body tissue and the most common type of the paraganglioma. This article reviews the pathological, clinical and ultrasound features of carotid body tumours and discusses the role of duplex ultrasound in the diagnosis and assessment of this condition. The initial presentation of carotid body tumour is usually a painless palpable neck mass. Some patients may experience local pressure symptoms as well as symptoms from vagal, hypoglossal and cervical sympathetic nerve impingement. Percutaneous needle aspiration or incisional biopsy is contraindicated for the diagnosis of carotid body tumours. Duplex ultrasound, computed tomography scan, magnetic resonance scan and angiography are commonly used diagnostic tools for this condition. Complete surgical excision of carotid body tumour is the treatment of choice as radiation therapy and chemotherapy are unsatisfactory. Based on vascularity and location, duplex ultrasound scan is able to diagnose carotid body tumour and differentiate it from many other masses in the neck. This non-invasive, inexpensive and readily available diagnostic tool can be used as a first-line imaging modality for the diagnosis and assessment of carotid body tumours.
PubMed: 25343084
DOI: 10.5582/irdr.v1.3.129 -
Cureus Mar 2024Paragangliomas (PGLs) are tumors that are rarely malignant; the majority of them are benign. Similar to pheochromocytoma, they develop from the autonomic nerve system....
Paragangliomas (PGLs) are tumors that are rarely malignant; the majority of them are benign. Similar to pheochromocytoma, they develop from the autonomic nerve system. This system originates from neural crest cells and can undergo neoplastic transformation. PGLs can arise either inside or outside the adrenal glands. Head and neck PGLs are very scarce. The primary locations where this tumor commonly originates within this region are the carotid body, jugular bulb, and vagal body. Hence, in our case report, we attempt to highlight the uncommon presentation of this disease in a 46-year-old female, who initially presented with hypertension and persistent dysphonia. The patient underwent successful external radiotherapy. This case report aims to raise awareness of the characteristics of these rare malignancies.
PubMed: 38586626
DOI: 10.7759/cureus.55720 -
Journal of Neurological Surgery. Part... Feb 2019To improve our understanding of the natural course of head and neck paragangliomas (HNPGL) and ultimately differentiate between cases that benefit from early...
To improve our understanding of the natural course of head and neck paragangliomas (HNPGL) and ultimately differentiate between cases that benefit from early treatment and those that are best left untreated, we studied the growth dynamics of 77 HNPGL managed with primary observation. Using digitally available magnetic resonance images, tumor volume was estimated at three time points. Subsequently, nonlinear least squares regression was used to fit seven mathematical models to the observed growth data. Goodness of fit was assessed with the coefficient of determination ( ) and root-mean-squared error. The models were compared with Kruskal-Wallis one-way analysis of variance and subsequent post-hoc tests. In addition, the credibility of predictions (age at onset of neoplastic growth and estimated volume at age 90) was evaluated. Equations generating sigmoidal-shaped growth curves (Gompertz, logistic, Spratt and Bertalanffy) provided a good fit (median : 0.996-1.00) and better described the observed data compared with the linear, exponential, and Mendelsohn equations ( < 0.001). Although there was no statistically significant difference between the sigmoidal-shaped growth curves regarding the goodness of fit, a realistic age at onset and estimated volume at age 90 were most often predicted by the Bertalanffy model. Growth of HNPGL is best described by decelerating tumor growth laws, with a preference for the Bertalanffy model. To the best of our knowledge, this is the first time that this often-neglected model has been successfully fitted to clinically obtained growth data.
PubMed: 30733904
DOI: 10.1055/s-0038-1667148