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Neurosurgical Review Feb 2022Cauda equina paragangliomas are rare benign extra-adrenal neuroendocrine tumours arising from the neural crest cells associated with autonomic ganglia. These tumours are... (Review)
Review
Cauda equina paragangliomas are rare benign extra-adrenal neuroendocrine tumours arising from the neural crest cells associated with autonomic ganglia. These tumours are often mistaken preoperatively for ependymomas or schwannomas. Patients present with axial or radicular pain with or without neurological deficits. Recurrence, secretory features and length of follow-up are controversial. We conducted a retrospective cohort study of paraganglioma through searching a prospectively maintained histopathology database. Patient demographics, presentation, surgery, complications, recurrence, follow-up and outcome between 2004 and 2016 were studied. The primary aim was to collate and describe the current evidence base for recurrence and secretory features of the tumour. The secondary objective was to report outcome and follow-up strategy. A scoping review was performed in accordance with the PRISMA-ScR Checklist. Ten patients were diagnosed (M:F 7:3) with a mean age of 53.6 ± 5.1 (range 34-71 years). MRI scans revealed intradural lumbar enhancing lesions. All patients had complete microsurgical excisions without adjuvant therapy with no recurrence with a mean follow-up of 5.1 ± 1.4 years. Tumours were attached to the filum terminale. Electron microscopic images demonstrated abundant neurosecretory granules with no evidence of catecholamine production. A total of 620 articles were screened and 65 papers (including ours) combining 121 patients (mean age 48.8 and M:F 71:50) were included. The mean follow-up was 3.48 ± 0.46 (range 0.15-23 years). Back pain was the most common symptom (94%). Cure following surgery was achieved in 93% of the patients whilst 7% had recurrence. Total resection likely results in cure without the need for adjuvant therapy or prolonged follow-up. However, in certain situations, the length of follow-up should be determined by the treating surgeon.
Topics: Adult; Aged; Cauda Equina; Ependymoma; Humans; Magnetic Resonance Imaging; Middle Aged; Paraganglioma; Peripheral Nervous System Neoplasms; Retrospective Studies
PubMed: 34021421
DOI: 10.1007/s10143-021-01565-7 -
Journal of Medical Genetics Sep 2002Paragangliomas are highly vascularised and often heritable tumours derived from paraganglia, a diffuse neuroendocrine system dispersed from skull base to the pelvic... (Review)
Review
Paragangliomas are highly vascularised and often heritable tumours derived from paraganglia, a diffuse neuroendocrine system dispersed from skull base to the pelvic floor. The carotid body, a small oxygen sensing organ located at the bifurcation of the carotid artery in the head and neck and the adrenal medulla in the abdomen, are the most common tumour sites. It now appears that mutations in SDHB, SDHC, and SDHD, which encode subunits of mitochondrial complex II (succinate dehydrogenase; succinate-ubiquinone oxidoreductase), are responsible for the majority of familial paragangliomas and also for a significant fraction of non-familial tumours. Germline mutations in complex II genes are associated with the development of paragangliomas in diverse anatomical locations, including phaeochromocytomas, a finding that has important implications for the clinical management of patients and genetic counselling of families. Consequently, patients with a paraganglioma tumour, including phaeochromocytoma, and a complex II germline mutation should be diagnosed with hereditary paraganglioma, regardless of family history, anatomical location, or multiplicity of tumours. This short review attempts to bring together relevant genetic data on paragangliomas with a particular emphasis on head and neck paragangliomas and phaeochromocytomas.
Topics: Adrenal Gland Neoplasms; Electron Transport Complex II; Head and Neck Neoplasms; Humans; Multienzyme Complexes; Mutation; Oxidoreductases; Paraganglia, Nonchromaffin; Paraganglioma; Succinate Dehydrogenase
PubMed: 12205103
DOI: 10.1136/jmg.39.9.617 -
Langenbeck's Archives of Surgery Feb 2012Malignant pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare disorders arising from the adrenal gland, from the glomera along parasympathetic nerves or from... (Comparative Study)
Comparative Study Review
INTRODUCTION
Malignant pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare disorders arising from the adrenal gland, from the glomera along parasympathetic nerves or from paraganglia along the sympathetic trunk. According to the WHO classification, malignancy of PCCs and PGLs is defined by the presence of metastases at non-chromaffin sites distant from that of the primary tumor and not by local invasion. The overall prognosis of metastasized PCCs/PGLs is poor. Surgery offers currently the only change of cure. Preferably, the discrimination between malignant and benign PCCs/PGLs should be made preoperatively.
METHODS
This review summarizes our current knowledge on how benign and malignant tumors can be distinguished.
CONCLUSION
Due to the rarity of malignant PCCs/PGLs and the obvious difficulties in distinguishing benign and malignant PCCs/PGLs, any patient with a PCC/PGL should be treated in a specialized center where a multidisciplinary setting with specialized teams consisting of radiologists, endocrinologist, oncologists, pathologists and surgeons is available. This would also facilitate future studies to address the existing diagnostic and/or therapeutic obstacles.
Topics: Adrenal Gland Neoplasms; Adrenalectomy; Animals; Biopsy, Needle; Chemotherapy, Adjuvant; Diagnosis, Differential; Diagnostic Imaging; Female; Humans; Immunohistochemistry; Male; Neoplasm Staging; Paraganglioma; Pheochromocytoma; Prognosis; Radiotherapy, Adjuvant; Survival Analysis
PubMed: 22124609
DOI: 10.1007/s00423-011-0880-x -
F1000Research 2018Inactivating mutations of the succinate dehydrogenase subunit B ( ) gene and the subsequent stabilization and activation of the hypoxia-inducible factor 2-alpha (HIF2α)... (Review)
Review
Inactivating mutations of the succinate dehydrogenase subunit B ( ) gene and the subsequent stabilization and activation of the hypoxia-inducible factor 2-alpha (HIF2α) unit are recognized hallmarks associated with the development of metastatic pheochromocytomas and paragangliomas (MPPG). Despite this discovery, the development of systemic therapies for patients with MPPG has been very slow. The rarity of the disease, the lack of preclinical animal models, and the impracticable development of large clinical trials has hindered the therapeutic progress for MPPG. Chemotherapy and low-specific activity meta-iodo-benzyl-guanidine (MIBG) (manufactured by simple isotope exchange methodology) led to positive clinical responses in about a third of patients. Molecular targeted therapies were introduced into oncological clinical practice at the beginning of the 21st century. These therapies have been demonstrated to be effective for patients with cancers that previously exhibited limited responses to systemic chemotherapy, such as kidney and thyroid carcinomas and pancreatic neuroendocrine tumors. The pathogenesis of MPPG overlaps in some way with the pathogenesis of kidney, medullary thyroid, and pancreatic neuroendocrine carcinomas, providing scientific support to explore molecular targeted therapies such as tyrosine kinase and HIF inhibitors.
Topics: Adrenal Gland Neoplasms; Animals; Basic Helix-Loop-Helix Transcription Factors; Humans; Paraganglioma; Pheochromocytoma; Protein Kinase Inhibitors; Protein-Tyrosine Kinases
PubMed: 30109021
DOI: 10.12688/f1000research.13995.1 -
Hormones (Athens, Greece) Jun 2021Pheochromocytoma/paraganglioma (PPGL)-induced catecholamine crisis is a rare endocrine emergency leading to life-threatening hemodynamic instability causing end-organ... (Review)
Review
Pheochromocytoma/paraganglioma (PPGL)-induced catecholamine crisis is a rare endocrine emergency leading to life-threatening hemodynamic instability causing end-organ damage or dysfunction. As it is associated with a significant mortality rate of approximately 15%, recognizing the signs and symptoms and making the appropriate diagnosis are critical. For this purpose, we report the clinical course of the crisis in four out of a total of six patients with a PPGL crisis from a cohort of 199 PPGL patients of a single tertiary referral center for PPGL patients in the Netherlands diagnosed between 2002 and 2020. Successful treatment of a PPGL crisis demands prompt diagnosis, vigorous pharmacological therapy, and emergency tumor removal if the patient continues to deteriorate.
Topics: Adrenal Gland Neoplasms; Catecholamines; Humans; Paraganglioma; Pheochromocytoma; Tertiary Care Centers
PubMed: 33575936
DOI: 10.1007/s42000-021-00274-6 -
BMJ Case Reports Jun 2022Functional mediastinal paragangliomas (PGs) are rare, catecholamine-secreting tumours. Surgical resection is the preferred treatment, but it can be complicated by...
Functional mediastinal paragangliomas (PGs) are rare, catecholamine-secreting tumours. Surgical resection is the preferred treatment, but it can be complicated by catecholamine-related symptoms, involvement of cardiac structures and/or tumour supply from major blood vessels. We report a case of a man in his 30s with a subcarinal functional PG complicated by all three factors. The PG had arterial supplies from the right coronary and bronchial arteries, with mass effect on the left atrium. Given the high risk of intraoperative bleeding, catecholamine surges and injury to right coronary artery, we attempted a minimally invasive strategy that incorporates best practices from the few published cases on functional PGs. We show that a multidisciplinary approach involving alpha/beta blockade, preoperative embolisation of tumour blood supply, robotic-assisted tumour mobilisation and, if needed, open resection with cardiopulmonary bypass can be a safe strategy in the treatment of functional mediastinal paragangliomas adherent to cardiac structures.
Topics: Catecholamines; Humans; Male; Mediastinal Neoplasms; Mediastinum; Paraganglioma; Paraganglioma, Extra-Adrenal
PubMed: 35672059
DOI: 10.1136/bcr-2022-250500 -
Journal of Cancer Research and Clinical... Apr 2020Pheochromocytomas/paragangliomas (PHEOs/PGLs) are rare in children with only a few SDHB mutation-related cases. Previous studies on children were conducted in small...
PURPOSE
Pheochromocytomas/paragangliomas (PHEOs/PGLs) are rare in children with only a few SDHB mutation-related cases. Previous studies on children were conducted in small cohorts. This large set of pediatric patients provides robust data in the evaluation of clinical outcomes.
METHODS
Sixty-four pediatric PHEO/PGL patients with SDHB germline mutations were included in the present study. The clinical presentation, disease course, and survival rate were evaluated.
RESULTS
Thirty-eight males and 26 females were diagnosed with PHEO/PGL at a median age of 13 years. The majority of patients displayed norepinephrine hypersecretion and 73.44% initially presented with a solitary tumor. Metastases developed in 70% of patients at the median age of 16 years and were mostly diagnosed first 2 years and in years 12-18 post-diagnosis. The presence of metastases at the time of diagnosis had a strong negative impact on survival in males but not in females. The estimated 5-, 10-, and 20-year survival rates were 100%, 97.14%, and 77.71%, respectively.
CONCLUSION
The present report has highlighted several important aspects in the management of pediatric patients with SDHB mutations associated-PHEO/PGL. Initial diagnostic evaluation of SDHB mutation carriers should be started at age of 5-6 years with initial work-up focusing on abdominal region. Thorough follow-up is crucial first 2 years post-diagnosis and more frequent follow-ups are needed in years 10-20 post-diagnosis due to the increased risk of metastases. Although this age group developed metastasis as early as 5 years from diagnosis, we have shown that the overall 20-year prognosis and survival are good.
Topics: Adolescent; Adrenal Gland Neoplasms; Adult; Child; Child, Preschool; Female; Germ-Line Mutation; Humans; Kaplan-Meier Estimate; Male; Neoplasm Staging; Paraganglioma; Pheochromocytoma; Prognosis; Succinate Dehydrogenase; Young Adult
PubMed: 32062700
DOI: 10.1007/s00432-020-03138-5 -
Tumori Nov 2017Paraganglioma, a kind of pheochromocytoma originating from embryonic neural crest, is a rare neuroendocrine neoplasm commonly located at extra-adrenal areas such as... (Review)
Review
PURPOSE
Paraganglioma, a kind of pheochromocytoma originating from embryonic neural crest, is a rare neuroendocrine neoplasm commonly located at extra-adrenal areas such as head, neck, and abdomen. There are a few reports on renal paragangliomas; fewer than 5 reported cases are renal pelvic paragangliomas, including our case.
METHODS
Our patient, who had not experienced headache, hypertension, or palpitation, was founded to have a fixed mass in the left renal pelvis incidentally. Ultrasonography and computed tomography (CT) demonstrated a heterogeneous mass before surgery, and histopathologic test subsequently revealed that the infrequent mass was paraganglioma.
RESULTS
During 6 months follow-up, ultrasonography and CT examinations showed no signs of recurrence or metastasis.
CONCLUSIONS
The present case report confirms surgery as the standard to treat patients with paraganglioma. We present this case to serve as a reminder of suspected paraganglioma when it has occurred in renal pelvis.
Topics: Adult; Humans; Kidney Neoplasms; Kidney Pelvis; Male; Paraganglioma; Pelvic Neoplasms; Prognosis; Young Adult
PubMed: 28799639
DOI: 10.5301/tj.5000677 -
Frontiers in Endocrinology 2022Gangliocytic paraganglioma (GP) is quite rare, and origin and entity remain to be elucidated. A 51-year-old man presented with GP as a sessile polyp with a smooth... (Review)
Review
Gangliocytic paraganglioma (GP) is quite rare, and origin and entity remain to be elucidated. A 51-year-old man presented with GP as a sessile polyp with a smooth surface that measured about 1 cm in diameter in the descending portion of duodenum. Pathological examination displayed that a neoplasm was predominantly located in the submucosa and infiltrated mucosa focally. The tumor consisted of epithelioid, ganglion-like, and spindle cells admixing in a haphazard way. The epithelioid cells resembled paraganglioma in cytological and architectural features. The ganglion-like cells were scattered and merged with the bland spindle cells in fascicular clusters, which resembled ganglioneuroma. Synaptophysin (Syn), microtubule-associated protein-2 (MAP-2), and chromogranin A (CgA) were positive in the epithelioid and ganglion-like cells in variety, and neurofilament (NF) staining highlighted the ganglion-like cells. S-100 and SOX-10 were positive in the spindle cell proliferation and around the epithelioid cells. Progesterone receptor (PR) was positive in the epithelioid cells. The polyp was resected, and no adjuvant therapy was given. The patient remained with no recurrence in 2 years' follow-up. Origin of GP is presumed to be related to pancreas islet. GP is distinguished from neuroendocrine tumor (NET) G1 and designated as paraganglioma-ganglioneuroma, a kind of composite paragangliomas.
Topics: Chromogranin A; Ganglioneuroma; Humans; Male; Middle Aged; Neuroendocrine Tumors; Pancreas; Paraganglioma
PubMed: 35299959
DOI: 10.3389/fendo.2022.847632 -
Radiology. Imaging Cancer May 2022Paragangliomas are neuroendocrine tumors that derive from paraganglia of the autonomic nervous system, with the majority of parasympathetic paragangliomas arising in the... (Review)
Review
Paragangliomas are neuroendocrine tumors that derive from paraganglia of the autonomic nervous system, with the majority of parasympathetic paragangliomas arising in the head and neck. More than one-third of all paragangliomas are hereditary, reflecting the strong genetic predisposition of these tumors. The molecular basis of paragangliomas has been investigated extensively in the past couple of decades, leading to the discovery of several molecular clusters and more than 20 well-characterized driver genes (somatic and hereditary), which are more than are known for any other endocrine tumor. Head and neck paragangliomas are largely related to the pseudohypoxia cluster and have been previously excluded from most molecular profiling studies. This review article introduces the molecular classification of paragangliomas, with a focus on head and neck paragangliomas, and discusses its impact on the management of these tumors. Genetic testing is now recommended for all patients with paragangliomas to provide screening and surveillance recommendations for patients and relatives. While CT and MRI provide excellent anatomic characterization of paragangliomas, gallium 68 tetraazacyclododecane tetraacetic acid-octreotate (ie, Ga-DOTATATE) has superior sensitivity and is recommended as first-line imaging in patients with head and neck paragangliomas with concern for multifocal and metastatic disease, patients with known multifocal and metastatic disease, and in candidates for targeted peptide-receptor therapy. Molecular Imaging, MR Perfusion, MR Spectroscopy, Neuro-Oncology, PET/CT, SPECT/CT, Head/Neck, Genetic Defects © RSNA, 2022.
Topics: Head and Neck Neoplasms; Humans; Magnetic Resonance Imaging; Paraganglioma; Paraganglioma, Extra-Adrenal; Positron Emission Tomography Computed Tomography; Positron-Emission Tomography; Radionuclide Imaging
PubMed: 35549357
DOI: 10.1148/rycan.210088