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Cardiovascular and Interventional... Apr 2024This study aims to provide a comprehensive review of the clinical benefits, complications, and safety profile associated with preoperative embolization in Glomus... (Meta-Analysis)
Meta-Analysis Review
PURPOSE
This study aims to provide a comprehensive review of the clinical benefits, complications, and safety profile associated with preoperative embolization in Glomus jugulare tumors (GJTs).
MATERIALS AND METHODS
A comprehensive search in PubMed, Embase, and Web of Science was conducted for English articles published up to March 2023, focusing on GJTs and preoperative embolization. Included studies involved patients over 18 with GJTs. We excluded studies that explored embolization methods other than the standard endovascular approach, as well as studies involving paragangliomas that did not provide specific data related to GJTs. Key variables such as hemorrhage volume and surgical time, as well as clinical outcomes, were analyzed. Data were analyzed using a random-effects model meta-analysis, assessing heterogeneity with the I statistic.
RESULTS
This review encompasses 19 studies with a total of 328 patients. The studies incorporated into our meta-analysis display considerable differences and inconsistencies in their data. The findings of the meta-analysis show a mean hemorrhage volume of 636 ml (95% confidence interval (CI) 473-799) following preoperative embolization, and a mean surgical duration of 487 min (95% CI 350-624). The study also notes potential complications: facial nerve deficits occurred in 20% of cases (95% CI 11-32%), and vagal nerve deficits in 22% (95% CI 13-31%).
CONCLUSION
This study suggests that preoperative embolization could decrease surgery duration and blood loss, but emphasizes the importance of evaluating risks like nerve damage. However, the generalizability of these findings is restricted due to the diversity of available data.
Topics: Humans; Glomus Jugulare Tumor; Embolization, Therapeutic; Hemorrhage; Treatment Outcome; Retrospective Studies
PubMed: 38528173
DOI: 10.1007/s00270-024-03687-z -
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 -
Clinical Endocrinology May 2024Head and neck paragangliomas (HNPGLs) are rare, usually benign, slow-growing tumours arising from neural crest-derived tissue. Definitive management pathways for HNPGLs...
CONTEXT
Head and neck paragangliomas (HNPGLs) are rare, usually benign, slow-growing tumours arising from neural crest-derived tissue. Definitive management pathways for HNPGLs have yet to be clearly defined.
OBJECTIVE
To review our experience of the clinical features and management of these tumours and to analyse outcomes of different treatment modalities.
METHODS
Demographic and clinical data were obtained from The Northern Ireland Electronic Care Record (NIECR) as well from a prospectively maintained HNPGL database between January 2011 through December 2023.
RESULTS
There were 87 patients; 50 females: 37 males with a mean age of 52.3 ± 14.2 years old (range 17-91 years old). 58.6% (n = 51) of patients had carotid body tumours, 25.2% (n = 22) glomus vagal tumours, 6.8% (n = 6) tumours in the middle ear, 2.2% (n = 2) in the parapharyngeal space and 1.1% (n = 1) in the sphenoid sinus. 5.7% (n = 5) of patients had multifocal disease. The mean tumour size at presentation was 3.2 ± 1.4 cm (range 0.5-6.9 cm). Pathogenic SDHD mutations were identified in 41.3% (n = 36), SDHB in 12.6% (n = 11), SDHC in 2.2% (n = 2) and SDHA in 1.1% (n = 1) of the patients. Overall treatment modalities included surgery alone in 51.7% (n = 45) of patients, radiotherapy in 14.9% (n = 13), observation in 28.7% (n = 25), and somatostatin analogue therapy with octreotide in 4.5% (n = 4) of patients. Factors associated with a significantly higher risk of recurrence included age over 60 years (p = .04), tumour size exceeding 2 cm (p = .03), positive SDHx variants (p = .01), and vagal and jugular tumours (p = .04).
CONCLUSION
The majority of our patients underwent initial surgical intervention and achieved disease stability. Our results suggest that carefully selected asymptomatic or medically unfit patients can be safely observed provided lifelong surveillance is maintained. We advocate for the establishment of a UK and Ireland national HNPGL registry, to delineate optimal management strategies for these rare tumours and improve long term outcomes.
PubMed: 38696538
DOI: 10.1111/cen.15070 -
Operative Neurosurgery (Hagerstown, Md.) Oct 2021Paragangliomas (PGLs) are benign hypervascular tumors that can develop in head and neck at different locations, primarily in the carotid bifurcation, jugular bulb,...
Paragangliomas (PGLs) are benign hypervascular tumors that can develop in head and neck at different locations, primarily in the carotid bifurcation, jugular bulb, tympanic plexus, and vagal ganglia.1 Different gene mutations have been linked to the familial inherited forms, which can represent approximately 30% of all PGLs.1,2 These are classified into 5 different clinical syndromes: PGL 1 to 5.1 These patients have increased risk for synchronous and metachronous lesions requiring an extensive work-up for hormone secretion and other associated neoplasms, as well as attentive follow-up for lifelong management.1,3 Surgical resection is the best treatment option as it can be curative when the resection is total.2-4 Preservation of the lower cranial nerve function is central to the management of head and neck PGLs, given the gravity of bilateral injuries.3 Irradiation therapy should be considered if the risk for bilateral lower cranial nerve injuries is high.5 Surgically, intrabulbar resection with preservation of the medial wall of the jugular bulb protects the lower cranial nerve function.3 Other technical finesses, including maintaining the facial nerve in its bony fallopian canal (facial bridge), avoiding carotid artery sacrifice, preservation of the ear canal, and preoperative embolization, contributed markedly to outcome improvement.2,3 We report a case of a 34-yr-old male with PGL 3 with a left glomus jugulare tumor that recurred and a right carotid body tumor. Patient consented to surgery and photography. Image at 3:44 republished from Al-Mefty and Teixeira,3 with permission from JSNPG.
Topics: Cranial Nerves; Glomus Jugulare Tumor; Humans; Male; Neoplasm Recurrence, Local; Paraganglioma; Skull Base
PubMed: 34293168
DOI: 10.1093/ons/opab268 -
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 Surgical Case Reports Apr 2021Paragangliomas (PGs) are extremely rare multicentric neoplasms. Hereditary or familial PGs are associated with germline mutations in succinate dehydrogenase genes, seen...
Paragangliomas (PGs) are extremely rare multicentric neoplasms. Hereditary or familial PGs are associated with germline mutations in succinate dehydrogenase genes, seen in one-third of cases. Primary PGs of the thyroid are uncommon neuroendocrine neoplasms that account for 0.012% of all head and neck lesions. Although majority of these tumors are solitary, familial PGs are associated with synchronous tumors (carotid/vagal). We report an interesting case of primary thyroid PG in a patient with a previous history of a right carotid body, right vagal PGs and positive familial history, confining the differential diagnosis to recurrent lesions, which is the most common occurrence or new primary or a metastatic lesion. However, long interval and surgical anatomy suggests the diagnosis to be a primary lesion. In conclusion, although these lesions present multicentrically present at varying intervals, their occurrence at anatomically distinct sites should raise the concern for a new primary PG.
PubMed: 33936587
DOI: 10.1093/jscr/rjab102 -
BMJ Case Reports Jul 2021Vagal paragangliomas (VPs) are a rare subset of neuroendocrine tumour derived from paraganglia located in the head/neck that are usually indolent in nature. Typical...
Vagal paragangliomas (VPs) are a rare subset of neuroendocrine tumour derived from paraganglia located in the head/neck that are usually indolent in nature. Typical clinical presentations include pulsatile tinnitus or hoarseness associated with a neck mass. Surgery and radiation therapy remain the primary treatment modalities but come with significant morbidity including cranial nerve damage. We describe a unique case of VP in which cough was the only presenting symptom, that was exacerbated by enlargement of the tumour. Symptoms improved following radiation treatment.
Topics: Cough; Cranial Nerve Neoplasms; Head and Neck Neoplasms; Humans; Paraganglioma; Paraganglioma, Extra-Adrenal
PubMed: 34330721
DOI: 10.1136/bcr-2021-241913 -
AJNR. American Journal of Neuroradiology May 2024The impact of therapeutic embolization as a stand-alone treatment of head and neck paragangliomas considered surgically high-risk remains insufficiently understood. The...
BACKGROUND AND PURPOSE
The impact of therapeutic embolization as a stand-alone treatment of head and neck paragangliomas considered surgically high-risk remains insufficiently understood. The aim of this study was to investigate the procedural risks and long-term volumetric development in head and neck paragangliomas with high surgical risk following therapeutic endovascular embolization as stand-alone treatment.
MATERIALS AND METHODS
A retrospective database review of patients who underwent endovascular embolization as primary treatment for head and neck paragangliomas lacking appropriate curative treatment options at our institution (from January 2000 to February 2023) was conducted. Tumor volumetric analyses were performed before embolization and during follow-up. To assess the changes in tumor volume over time, the measurements were performed after embolization, first at 6 months and then on a yearly basis up to 6 years (mean follow-up time was: 33.7 ± 24.4 months). Subgroup analyses were conducted for vagal and jugular/jugulotympanic paragangliomas.
RESULTS
A total of 32 head and neck paragangliomas in 28 patients (mean age, 56.1 years ± 16.5 [standard deviation]; 18 female) with therapeutic embolization as stand-alone treatment were evaluated, of which 11 were vagal paragangliomas, 15 jugular/jugulotympanic paragangliomas and 6 carotid body tumors. After a mean follow-up duration of 33.7 ± 24.4 months tumor control was achieved in 75%, with significant median tumor volume reduction at 6 months (p = .02, n = 21). Vagal paragangliomas responded the most to embolization with a significantly decreased median volume from 22.32 cm; to 19.09 cm (p = .008, n = 8). Transient complications occurred in 3.4%.
CONCLUSIONS
Therapeutic embolization as a stand-alone treatment offers a low-risk control of tumor growth in surgically high-risk lesions, with a significant reduction in tumor volume after treatment. Among the different subtypes, vagal paragangliomas exhibited the strongest and longest regression of the tumor volume. HNPGL = head and neck paragangliomas; IQR = interquartile range; JTP = jugular/jugulotympanic paragangliomas; PVA = polyvinyl alcohol; VP = vagal paragangliomas.
PubMed: 38719606
DOI: 10.3174/ajnr.A8328 -
International Journal of Surgery Case... Dec 2023Paragangliomas are rare tumors that most commonly occur in the head and neck. They are typically slow-growing tumors that are often associated with genetic syndromes and...
INTRODUCTION AND SIGNIFICANCE
Paragangliomas are rare tumors that most commonly occur in the head and neck. They are typically slow-growing tumors that are often associated with genetic syndromes and mutations in the enzyme succinate dehydrogenase.
CASE PRESENTATION
We describe a case of a male patient who presented with ear pain and dysphagia. On physical examination, there was a left neck mass and swalling in the left oropharynx. The mass was excised through a cervical approach and it was found to be a vagal paraganglioma.
CLINICAL DISCUSSION
A few cases of head and neck paragangliomas (HNPGLs) have been reported in the medical literature. These tumors often present as asymptomatic masses, but this case, the patient presented with ear pain and dysphagia the location of the mass in the parapharyngeal space presents a surgical challenge. HNPGLs should be considered in the differential diagnosis of any neck mass.
CONCLUSION
Paragangliomas are generally considered to have a good prognosis when they are completely excised. They rarely metastasize to adjacent or distant tissues. Cervical approach is a valid option for complete excision of cervical paraganglioma.
PubMed: 37984258
DOI: 10.1016/j.ijscr.2023.109025 -
Frontiers in Genetics 2020Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors that have a high degree of heritability and are predominantly associated with mutations in ten...
Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors that have a high degree of heritability and are predominantly associated with mutations in ten genes, such as , and . Elucidating the mutation prevalence is crucial for the development of genetic testing. In this study, we identified pathogenic/likely pathogenic variants in the main susceptibility genes in 102 Russian patients with HNPGLs (82 carotid and 23 vagal paragangliomas) using whole exome sequencing. Pathogenic/likely pathogenic variants were detected in 43% (44/102) of patients. We identified the following variant distribution of the tested genes: (1%), (10%), (5%), (24.5%), and (5%). variants were observed in the majority of the patients with bilateral/multiple paragangliomas. Thus, among Russian patients with HNPGLs the most frequently mutated gene was followed by , and .
PubMed: 33391357
DOI: 10.3389/fgene.2020.614908