-
Annales D'endocrinologie Aug 2023Thoracic and cervical paragangliomas (PGLs) are rare neuroendocrine tumors arising from chromaffin cells of the neural crest progenitors located outside the adrenal... (Review)
Review
Thoracic and cervical paragangliomas (PGLs) are rare neuroendocrine tumors arising from chromaffin cells of the neural crest progenitors located outside the adrenal gland. We describe our current protocol as a multidisciplinary team for the management of cervical and thoracic PGLs. Surgery is generally considered the treatment of choice as it offers the best chance for cure. For resection of thoracic PGLs, video-assisted thoracoscopic surgery (VATS) is the main surgical approach, while open thoracotomy is preferred in case of tumors > 6cm, lacking confirmation of a plane of separation with adjacent structures, or with technical difficulties during VATS. In cervical PGLs, the surgical approach should be individualized according to location, mainly based on the Glasscock-Jackson and the Fisch-Mattox classifications. Surgery is the treatment of choice for most cervical and thoracic PGLs, but radiotherapy or observation could be more suitable options in unresectable cervical and thoracic PGLs or when resection has been incomplete.
Topics: Humans; Paraganglioma; Neuroendocrine Tumors; Adrenal Glands
PubMed: 36334803
DOI: 10.1016/j.ando.2022.10.013 -
Turkish Neurosurgery 2024Vagal paragangliomas (VPs) are rare tumors arising from paraganglionic tissue within the vagal nerve's perineurium. Usually, benign vascular tumors, VPs tend to invade...
Vagal paragangliomas (VPs) are rare tumors arising from paraganglionic tissue within the vagal nerve's perineurium. Usually, benign vascular tumors, VPs tend to invade the surrounding structures. Herein, we report the case of a VP presenting as a neck mass, which was evaluated as a glomus caroticum tumor preoperatively. A 65-year-old female complaining of a left-sided neck mass and intermittent hoarseness was assessed and operated on for possible glomus caroticum tumor. During the tumor excision, the vagal nerve was also involved, and hence, sacrificed. Histopathological examination revealed an encapsulated tumor associated with a nerve and ganglion and immunohistochemical staining tested positive for succinate dehydrogenase, confirming the diagnosis of VP. Postoperative residual hoarseness was corrected by vocal rehabilitation. While evaluating a retropharyngeal prestyloid neck mass, a VP should always be considered. Surgical excision involving vagal scarification, followed by vocal rehabilitation may be the appropriate treatment strategy.
Topics: Female; Humans; Aged; Hoarseness; Paraganglioma, Extra-Adrenal; Vagus Nerve; Immunohistochemistry; Paraganglioma
PubMed: 37846532
DOI: 10.5137/1019-5149.JTN.40702-22.2 -
Otolaryngology--head and Neck Surgery :... Apr 2016Head and neck paragangliomas are a group of slow-growing hypervascular tumors associated with the paraganglion system. The approach to evaluate and treat these lesions... (Review)
Review
OBJECTIVE
Head and neck paragangliomas are a group of slow-growing hypervascular tumors associated with the paraganglion system. The approach to evaluate and treat these lesions has evolved over the last 2 decades. While radical surgery had been the traditional approach, improvements in diagnostic imaging as well as radiation therapy techniques have led to an emphasis on observation and nonsurgical therapy in many patients. This article reviews the contemporary approach to the workup and management of head and neck paragangliomas.
DATA SOURCE
Articles were identified from PubMed.
REVIEW METHODS
PubMed searches with the following keywords were performed: carotid body paraganglioma management, vagal paraganglioma management, jugulotympanic paraganglioma management, imaging of head and neck paragangliomas, head and neck paraganglioma embolization, paraganglioma radiation, head and neck paraganglioma management, observation of head and neck paragangliomas, bilateral carotid body paragangliomas, and genetics of paragangliomas. Review and original research articles available in the English language and published during or after 2009 were selected on the basis of their clinical relevance and scientific strength. Certain articles published prior to 2009 were also included if they provided background information that was relevant.
CONCLUSIONS/IMPLICATIONS FOR PRACTICE
Workup and treatment of head and neck paragangliomas are changing. With more now known regarding the longitudinal behavior of these tumors, observation and nonsurgical therapy are indicated in many instances. For patients where surgery is the most appropriate option, improved diagnostic and perioperative techniques are allowing patients to tolerate resection, often with reduced morbidity.
Topics: Diagnostic Imaging; Disease Management; Head and Neck Neoplasms; Humans; Paraganglioma
PubMed: 26861230
DOI: 10.1177/0194599815627667 -
The Journal of Craniofacial Surgery Sep 2014The purpose of this paper is to present and discuss a new case of malignant vagal paraganglioma. A 38-year-old woman was referred for the assessment of a bilateral firm...
The purpose of this paper is to present and discuss a new case of malignant vagal paraganglioma. A 38-year-old woman was referred for the assessment of a bilateral firm cervical mass. CT scans revealed a left cervical ovoid mass; contralaterally, a mass with a similar enhancement could be observed too. The tumor was surgically removed via a transcervical surgical approach, together with levels I to III lymph nodes. Definitive histopathological examination proved the diagnosis of malignant vagal paraganglioma with contralateral cervical lymph node metastasis. One year after surgery, a PET-CT and a scintigraphy revealed the presence of a cervical recurrence and hepatic metastasis. Three months after a second surgical intervention, the patient died. Malignant vagal paraganglioma is a rare and challenging lesion that has to be carefully assessed to plan an appropriate treatment. A strict follow-up is fundamental for an early diagnosis of eventual recurrences.
Topics: Adult; Cranial Nerve Neoplasms; Fatal Outcome; Female; Humans; Liver Neoplasms; Lymphatic Metastasis; Neoplasm Recurrence, Local; Paraganglioma, Extra-Adrenal; Tomography, X-Ray Computed; Vagus Nerve Diseases
PubMed: 25148625
DOI: 10.1097/SCS.0000000000001007 -
European Annals of Otorhinolaryngology,... Dec 2017Vagal paraganglioma are rare tumors that are mostly asymptomatic. We report a case of vagal paraganglioma associated with paraneoplastic polymyalgia rheumatica and...
INTRODUCTION
Vagal paraganglioma are rare tumors that are mostly asymptomatic. We report a case of vagal paraganglioma associated with paraneoplastic polymyalgia rheumatica and review the literature on benign paragangliomas of the head and neck associated with paraneoplastic syndrome.
CASE REPORT
A 53-year-old man presented with atypical polymyalgia rheumatica. MRI revealed a tumor that was then surgically excised. Histological examination confirmed the diagnosis of benign vagal paraganglioma. Rapid, complete and permanent resolution of all rheumatological symptoms were observed postoperatively, confirming the diagnosis of paraneoplastic polymyalgia rheumatica.
CONCLUSION
Paraganglioma of the neck associated with paraneoplastic syndrome remains exceptional. A predisposing gene mutation must be systematically investigated. Long-term surveillance must be ensured due to the risk of local recurrence, second tumors or metastasis.
Topics: Cranial Nerve Neoplasms; Diagnosis, Differential; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Paraganglioma, Extra-Adrenal; Polymyalgia Rheumatica; Treatment Outcome; Vagus Nerve Diseases
PubMed: 28412079
DOI: 10.1016/j.anorl.2017.03.005 -
Head and Neck Pathology Sep 2017Paragangliomas (PGL) develop from the parasympathetic system in the head and neck (HN) and arise primarily in four distinct areas: Carotid body, vagal, middle ear, and... (Review)
Review
Paragangliomas (PGL) develop from the parasympathetic system in the head and neck (HN) and arise primarily in four distinct areas: Carotid body, vagal, middle ear, and larynx. Globally, the diagnosis and morphologic features are the same regardless of anatomic site, however the incidence, frequency of genetic alterations/syndromes and differential diagnosis vary. It is now recognized that nearly 40% of all HN PGLs are hereditary, including a significant subset without a known family history. Now pathologists are central to the evaluation for diagnosis and further management of patients with HNPGLs. Specifically, SDHB immunohistochemical evaluation is an excellent screening tool to detect tumors with alterations in the SDH family of genes that represent the majority of hereditary cases in HNPGL. Similarly, SDHB immunohistochemical analysis allows for screening of PGL syndrome associated tumors (gastrointestinal stromal tumor (GIST), renal cell carcinoma (RCC), and pituitary adenomas) that have now been linked by their overlapping gene alterations. Awareness of the spectrum of these syndromes, and their associated tumors, positions the pathologist to augment patient care and surveillance.
Topics: Head and Neck Neoplasms; Humans; Paraganglioma, Extra-Adrenal
PubMed: 28321772
DOI: 10.1007/s12105-017-0803-4 -
The Annals of Otology, Rhinology, and... Nov 2020Recommendations regarding head and neck paragangliomas (HNPGL) have undergone a fundamental reorientation in the last decade as a result of increased understanding of... (Review)
Review
BACKGROUND
Recommendations regarding head and neck paragangliomas (HNPGL) have undergone a fundamental reorientation in the last decade as a result of increased understanding of the genetic and pathophysiologic basis of these disorders.
OBJECTIVE
We aim to provide an overview of HNPGL and recent discoveries regarding their molecular genetics, along with updated recommendations on workup, treatment, and surveillance, and their implications for otolaryngologists treating patients with these disorders.
RESULTS
susceptibility gene mutations, encoding subunits of the enzyme succinate dehydrogenase (SDH), give rise to the Hereditary Pheochromocytoma/Paraganglioma Syndromes. , and mutations each result in unique phenotypes with distinct penetrance and risk for variable tumor development as well as metastasis. Genetic and biochemical testing is recommended for every patient with HNPGL. Multifocal disease should be managed in multi-disciplinary fashion. Patients with mutations require frequent biochemical screening and whole-body imaging, as well as lifelong follow-up with an expert in hereditary pheochromocytoma and paraganglioma syndromes.
CONCLUSION
Otolaryngologists are likely to encounter patients with HNPGL. Keeping abreast of the latest recommendations, especially regarding genetic testing, workup for additional tumors, multi-disciplinary approach to care, and need for lifelong surveillance, will help otolaryngologists appropriately care for these patients.
Topics: Genetic Testing; Head and Neck Neoplasms; Humans; Membrane Proteins; Mutation; Otolaryngologists; Paraganglioma; Phenotype
PubMed: 32486832
DOI: 10.1177/0003489420931540 -
Current Opinion in Otolaryngology &... Apr 2023This review summarizes practical recommendations for screening, work-up, and management of hereditary head and neck paragangliomas based on the growing molecular and... (Review)
Review
PURPOSE OF REVIEW
This review summarizes practical recommendations for screening, work-up, and management of hereditary head and neck paragangliomas based on the growing molecular and empirical understanding of this disease.
RECENT FINDINGS
The proportion of hereditary cases among head and neck paragangliomas is significant (∼33 to 50%), and specific genetic alterations may increase the risk of malignancy. Genotyping should be performed for each case, and patients carrying a pathological mutation should be regularly screened for new tumors. Computed tomography (CT), magnetic resonance imaging (MRI), digital subtraction angiography (DSA), and functional positron emission tomography (PET) can provide a reliable preoperative diagnosis in the absence of histology. Comparative data on therapeutic outcome and morbidity now render radiation, stereotactic radiosurgery, and active surveillance preferable over surgery in highly advanced cases of jugulotympanic and vagal paragangliomas, whereas surgery remains the first choice for most carotid body paragangliomas.
SUMMARY
Complete paraganglioma removal continues to be the primary therapeutic goal; however, this is sometimes impossible to accomplish with acceptable morbidity. In these cases, therapy selection should focus on preserving cranial nerve function and minimizing both tumor-associated and therapy-associated complications, particularly in genetically predisposed patients. An interdisciplinary approach to the management of hereditary head and neck paragangliomas is strongly recommended.
Topics: Humans; Head and Neck Neoplasms; Paraganglioma, Extra-Adrenal; Paraganglioma; Magnetic Resonance Imaging; Tomography, X-Ray Computed
PubMed: 36912223
DOI: 10.1097/MOO.0000000000000867 -
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