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Journal of Neurosciences in Rural... Jan 2021The aim of the study is to determine the surgical candidacy and nuances of skull base paraganglioma surgery in the era of radiotherapy. This was a retrospective...
The aim of the study is to determine the surgical candidacy and nuances of skull base paraganglioma surgery in the era of radiotherapy. This was a retrospective observational study conducted in patients who presented with skull base paragangliomas between January 2017 and December 2019. Primary data, including indication for surgery, the approach used, the extent of resection, complications, and postoperative lower cranial nerve status were studied. A total of 21 cases of skull base paragangliomas were analyzed, including seven cases of tympanic paraganglioma, 10 cases of jugular foramen paraganglioma, three cases of multiple paragangliomas, and one case of vagal paraganglioma. Indications for surgery were young age, bleeding from ear, neck mass with upper aerodigestive pressure symptoms, lower cranial nerve paralysis, and patients with intracranial pressure symptoms. Total excision was done in 11 patients, near-total excision in five patients, subtotal in three patients, and surgery was not done in two patients. Facial nerve paralysis was the most common complication observed, followed by bleeding and flap necrosis. Radiotherapy was considered as adjuvant treatment wherever indicated. A thorough knowledge and understanding of the pathophysiology of the skull base paragangliomas and its management strategies can help to achieve excellent results in terms of tumor clearance and reduction in complications. A multidisciplinary team approach and meticulous skull base surgical techniques have a significant role to play in the management of paragangliomas, especially in developing countries where availability of radiosurgery is still a challenge.
PubMed: 33531769
DOI: 10.1055/s-0040-1721201 -
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 -
International Journal of Molecular... Oct 2020Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumors. Head and neck paragangliomas (HNPGL) can be categorized into carotid body tumors, which... (Review)
Review
Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumors. Head and neck paragangliomas (HNPGL) can be categorized into carotid body tumors, which are the most common, as well as jugular, tympanic, and vagal paraganglioma. A review of the current literature was conducted to consolidate knowledge concerning PGL mutations, familial occurrence, and the practical application of this information. Available scientific databases were searched using the keywords head and neck paraganglioma and genetics, and 274 articles in PubMed and 1183 in ScienceDirect were found. From these articles, those concerning genetic changes in HNPGLs were selected. The aim of this review is to describe the known genetic changes and their practical applications. We found that the etiology of the tumors in question is based on genetic changes in the form of either germinal or somatic mutations. 40% of PCC and PGL have a predisposing germline mutation (including and ). Approximately 25-30% of cases are due to somatic mutations, such as , and . The tumors were divided into three main clusters by the Cancer Genome Atlas (TCGA); namely, the pseudohypoxia group, the Wnt signaling group, and the kinase signaling group. The review also discusses genetic syndromes, epigenetic changes, and new testing technologies such as next-generation sequencing (NGS).
Topics: Genetic Predisposition to Disease; Head and Neck Neoplasms; Humans; Mutation; Paraganglioma
PubMed: 33081307
DOI: 10.3390/ijms21207669 -
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 -
BMC Medical Genomics Sep 2020Carotid and vagal paragangliomas (CPGLs and VPGLs) are rare neoplasms that arise from the paraganglia located at the bifurcation of carotid arteries and vagal trunk,...
BACKGROUND
Carotid and vagal paragangliomas (CPGLs and VPGLs) are rare neoplasms that arise from the paraganglia located at the bifurcation of carotid arteries and vagal trunk, respectively. Both tumors can occur jointly as multiple paragangliomas accounting for approximately 10 to 20% of all head and neck paragangliomas. However, molecular and genetic mechanisms underlying the pathogenesis of multiple paragangliomas remain elusive.
CASE PRESENTATION
We report a case of multiple paragangliomas in a patient, manifesting as bilateral CPGL and unilateral VPGL. Tumors were revealed via computed tomography and ultrasound study and were resected in two subsequent surgeries. Both CPGLs and VPGL were subjected to immunostaining for succinate dehydrogenase (SDH) subunits and exome analysis. A likely pathogenic germline variant in the SDHD gene was indicated, while likely pathogenic somatic variants differed among the tumors.
CONCLUSIONS
The identified germline variant in the SDHD gene seems to be a driver in the development of multiple paragangliomas. However, different spectra of somatic variants identified in each tumor indicate individual molecular mechanisms underlying their pathogenesis.
Topics: Carotid Artery Diseases; Cranial Nerve Neoplasms; Female; Humans; Middle Aged; Neoplasms, Multiple Primary; Paraganglioma; Succinate Dehydrogenase; Vagus Nerve Diseases; Vascular Neoplasms
PubMed: 32948182
DOI: 10.1186/s12920-020-00789-8 -
Journal of Cardiothoracic Surgery May 2020Paragangliomas are rare endocrine tumors that arise from the extra-adrenal autonomic paraganglia and sympathetic paragangliomas usually secret catecholamines and are...
INTRODUCTION
Paragangliomas are rare endocrine tumors that arise from the extra-adrenal autonomic paraganglia and sympathetic paragangliomas usually secret catecholamines and are located in the sympathetic paravertebral ganglia of thorax, abdomen, and pelvis. In contrast, most parasympathetic paragangliomas are nonfunctional and located along the glossopharyngeal and vagal nerves in the neck and at the base of the skull. Such neoplasms, although rare, are clinically important because they may recur after surgical resection and 10% of them give rise to metastases causing death with the lymphatic nodes, bones, liver, and lungs being the most common locations.
CASE PRESENTATION
We present a case of a 26-year-old male patient that was diagnosed with paraganglioma of the right-frontal lobe infiltrating the falx and frontal bone which was diagnosed after suffering from a headache and abnormal vision. On initial work-up he was found to have right pulmonary nodules that increased in size after follow up and other nodules appeared in the contralateral lung. He underwent subtotal resection of the brain tumor and complete resection of the bilateral pulmonary nodules.
CONCLUSION
To our knowledge, paraganglioma is considered to be a rare entity in the central nervous system with very few cases being reported in the supratentorial region and no cases were reported of metastatic such paraganglioma to the lung.
Topics: Adult; Brain; Humans; Lung Neoplasms; Magnetic Resonance Imaging; Male; Multiple Pulmonary Nodules; Neoplasm Metastasis; Neoplasm Recurrence, Local; Paraganglioma; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 32393294
DOI: 10.1186/s13019-020-01113-2 -
Case Reports in Veterinary Medicine 2020Pheochromocytomas are catecholamine-secreting tumors that are composed of neuroectoderm-derived chromaffin cells. An 8-year-old miniature dachshund with abdominal...
Pheochromocytomas are catecholamine-secreting tumors that are composed of neuroectoderm-derived chromaffin cells. An 8-year-old miniature dachshund with abdominal distension was diagnosed with a neuroendocrine tumor with invasion from the caudal vena cava to the right ventricular cavity. The dog died due to hypotensive shock from the vagal reflex, and on autopsy, an extra-adrenal pheochromocytoma (paraganglioma) was diagnosed in the caudal abdomen. At autopsy, the tumor plug of the caudal vena cava was confirmed. To the best of our knowledge, this is the first case report that echo-captured the extension of pheochromocytoma in the right ventricle and shows it in a figure and video file.
PubMed: 32095312
DOI: 10.1155/2020/5382687 -
Indian Journal of Otolaryngology and... Oct 2019Vagal paragangliomas are rare tumors. Advances in the imaging have aided the diagnosis and assessment of this disease. Surgery is the mainstay of the treatment however...
Vagal paragangliomas are rare tumors. Advances in the imaging have aided the diagnosis and assessment of this disease. Surgery is the mainstay of the treatment however radiotherapy has been tried in the selected cases. Surgery is associated with some mortality but with a lot of morbidity in view of cranial nerve deficit. The necessity to prevent additional cranial nerve deficits needs thorough preoperative evaluation and influences the therapeutic approach. This study involves the retrograde evaluation of five patients of vagal paraganglioma histopathologically confirmed, all the patients were operated via trancervical approach. Preoperatively three of five had 9, 11 and 12th cranial nerve involvement, one had horner's syndrome. Postoperative vocal rehabilitation was done in all the patient by medialisation thyroplasty Issiki type 1. Though vagal paragangliomas are associated with mortality and morbidity. Surgical treatment should aim at reducing mortality. Vagal nerve morbidity can be taken care as a planned and staged procedure mainly involving restoring voice as rest of concerns are taken care by compensation from opposite nerves.
PubMed: 31741999
DOI: 10.1007/s12070-018-1340-5