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Surgical Oncology Clinics of North... Jan 2016This article highlights the epidemiology and pathophysiology of pheochromocytomas and paragangliomas. The current management of pheochromocytoma and paragangliomas,... (Review)
Review
This article highlights the epidemiology and pathophysiology of pheochromocytomas and paragangliomas. The current management of pheochromocytoma and paragangliomas, including utilization and interpretation of biochemical testing, preoperative imaging, and genetic screening are discussed. Furthermore, perioperative surgical management, outcomes, and recommended follow-up are reviewed.
Topics: Humans; Paraganglioma; Pheochromocytoma
PubMed: 26610778
DOI: 10.1016/j.soc.2015.08.006 -
World Neurosurgery May 2022Primary spine paragangliomas are rare tumors. Surgical resection plays a role, but aggressive lesions are challenging. We reviewed the literature on primary spine... (Review)
Review
BACKGROUND
Primary spine paragangliomas are rare tumors. Surgical resection plays a role, but aggressive lesions are challenging. We reviewed the literature on primary spine paragangliomas.
METHODS
PubMed, Scopus, Web of Science, and Cochrane were searched following the PRISMA guidelines to include studies on primary spine paragangliomas. Clinical-radiologic features, treatments, and outcomes were analyzed and compared between cauda equina versus non-cauda equina tumors.
RESULTS
We included 143 studies comprising 334 patients. Median age was 46 years (range, 6-85 years). The most frequent symptoms were lower back (64.1%) and radicular (53.9%) pain, and sympathetic in 18 patients (5.4%). Cauda equina paragangliomas (84.1%) had frequently lumbar (49.1%) or lumbosacral (29%) locations. Non-cauda equina tumors were mostly in the thoracic (11.4%), thoracolumbar (5.1%), and cervical (3.6%) spine. Median tumor diameter was 2.5 cm (range, 0.5-13.0 cm). Surgical resection (98.5%) was preferred over biopsy (1.5%). Decompressive laminectomy (53%) and spine fusion (6.9%) were also performed. Adjuvant radiotherapy was delivered in 39 patients (11.7%) with aggressive tumors. Posttreatment symptomatic improvement was described in 86.2% cases. Median follow-up was 19.5 months (range, 0.1-468.0 months), and 23 patients (3.9%) had tumor recurrences. No significant differences were found between cauda equina versus non-cauda equina tumors.
CONCLUSIONS
Surgical resection is effective and safe in treating primary spine paragangliomas; however, adjuvant treatments may be needed for aggressive lesions.
Topics: Cauda Equina; Humans; Lumbosacral Region; Middle Aged; Neoplasm Recurrence, Local; Paraganglioma; Paraganglioma, Extra-Adrenal; Spinal Neoplasms; Spine
PubMed: 35123022
DOI: 10.1016/j.wneu.2022.01.110 -
The Annals of Otology, Rhinology, and... Apr 1992Paraganglioma of the thyroid gland is a rare neoplasm. Only eight cases have previously been reported. The neoplasm was confined to the thyroid in all but two patients;... (Review)
Review
Paraganglioma of the thyroid gland is a rare neoplasm. Only eight cases have previously been reported. The neoplasm was confined to the thyroid in all but two patients; laryngeal involvement was seen in one and tracheal involvement in another. A review of these previously reported cases is presented along with the details of an additional case with laryngeal involvement. Laryngeal and thyroid paragangliomas are compared and contrasted. The anatomic and embryologic basis of these tumors and the diagnosis and treatment are discussed. We suggest changing the nomenclature and reporting of these lesions on the basis of their apparent common origin. Surgery remains the treatment of choice in most paragangliomas, including those involving the larynx and thyroid. Although the number of reported cases is small, there have been no cases of distant metastases or local recurrence after adequate surgical removal.
Topics: Adult; Female; Humans; Laryngeal Neoplasms; Laryngectomy; Paraganglioma; Thyroid Neoplasms; Thyroidectomy
PubMed: 1562132
DOI: 10.1177/000348949210100402 -
Head & Neck Jan 1997Paragangliomas are uncommon neuroendocrine tumors. In the head and neck region they are most commonly associated with the carotid body, vagus nerve, jugulotympanic... (Review)
Review
Paragangliomas are uncommon neuroendocrine tumors. In the head and neck region they are most commonly associated with the carotid body, vagus nerve, jugulotympanic paraganglia, and occasionally the superior and inferior laryngeal paraganglia. Laryngeal paragangliomas and subglottic paragangliomas are rare. There have been nine reported cases in the English literature of subglottic paragangliomas. We present a case of this unusual lesion and discuss histologic characteristics and surgical treatment.
Topics: Female; Glottis; Humans; Laryngeal Neoplasms; Magnetic Resonance Imaging; Middle Aged; Paraganglioma
PubMed: 9030946
DOI: 10.1002/(sici)1097-0347(199701)19:1<54::aid-hed10>3.0.co;2-r -
European Journal of Clinical... Sep 2015Metastatic pheochromocytomas (PCs) and paragangliomas (PGLs) are rare neuroendocrine tumours with a strong genetic background. (Review)
Review
BACKGROUND
Metastatic pheochromocytomas (PCs) and paragangliomas (PGLs) are rare neuroendocrine tumours with a strong genetic background.
DESIGN
We searched the PubMed database through February 2015 to identify studies characterizing metastatic PCs/PGLs as well as currently established and evolving therapies.
RESULTS
Large size tumours (> 5 cm), PASS score > 6 and Ki-67 labelling index > 3% are the most robust indices of metastatic PCs/PGLs albeit with great variability. Germline succinate dehydrogenase complex, subunit B (SDHB) mutation constitutes the main reliable molecular predictor of malignancy. Plasma and urinary methoxytyramine are the biochemical markers characterizing metastatic PCs/PGLs along with evolving molecular markers such as miRNAs and SNAIL. Conventional imaging is used for tumour localization, whereas (18)F-FDG-PET for staging of metastatic PCs/PGLs especially those related to SDHB gene mutations. In addition, (68)Ga-DOTATATE PET/CT is emerging as a highly sensitive alternative. Surgery remains the gold standard treatment in reducing tumour bulk and/or controlling the clinical syndrome. Treatment with (131)I-MIBG or radiolabelled somatostatin analogues is considered for unresectable disease. Conventional chemotherapy is reserved for more advanced and refractory to other therapies disease although new schemes are currently evolving. Recent genetic studies have highlighted a number of pathways involved in PCs/PGLs pathogenesis directing towards the use of targeted therapies which have still to be validated in clinical practice.
CONCLUSIONS
Metastatic PCs/PGLs remain an orphan disease that is only curable by surgery. However, advances in genomic analyses have improved the pathogenesis of these tumours and may lead to effective and more personalized treatments in the near future.
Topics: 3-Iodobenzylguanidine; Adrenal Gland Neoplasms; Fluorodeoxyglucose F18; Humans; Multimodal Imaging; Mutation; Paraganglioma; Pheochromocytoma; Positron-Emission Tomography; Radiopharmaceuticals; Succinate Dehydrogenase; Tomography, X-Ray Computed
PubMed: 26183460
DOI: 10.1111/eci.12495 -
Tumori Jun 1990Extra-adrenal non-functioning retroperitoneal paragangliomas are rare tumors. We herein report a case of retroperitoneal tumor which posed a diagnostic and management... (Review)
Review
Extra-adrenal non-functioning retroperitoneal paragangliomas are rare tumors. We herein report a case of retroperitoneal tumor which posed a diagnostic and management problem. Review of the literature shows only 16 previously reported cases of extra-adrenal paraganglioma which underwent complete surgical excision.
Topics: Adult; Humans; Male; Paraganglioma; Retroperitoneal Neoplasms
PubMed: 2195728
DOI: 10.1177/030089169007600310 -
Cell and Tissue Research May 2018To date, germline or somatic genetic events can be detected for at least 60% of paragangliomas. Strong genotype-phenotype associations have been recognized and become... (Review)
Review
To date, germline or somatic genetic events can be detected for at least 60% of paragangliomas. Strong genotype-phenotype associations have been recognized and become increasingly refined. Characteristics closely linked with genotype include syndromic presentation, age of onset, risk of metastatic disease and predominant anatomic site. In contrast, profiles of catecholamine secretion appear to be largely determined by anatomic location or cell type of origin. This review summarizes current knowledge of genotype-phenotype correlations for paragangliomas in different locations and scrutinizes previous publications on the respective tissues of origin to find potential explanations for site-related differences. We hypothesize that differential sensitivities of distinct chromaffin cell populations to hypoxia are major determinants of these differences, with increased sensitivity to hypoxia likely exacerbating vulnerability to mutation-derived disruption of hypoxic signaling pathways. Potential involvement of endothelin-1, tumor necrosis factor type 1 receptor-associated protein and the hypoxia-inducible miR-210 in the development of abdomino-thoracic or head and neck paragangliomas are discussed. Recognition of factors that predispose to chromosomal losses, or amplify sub-threshold molecular alterations towards tumorigenic events in different (chromaffin) cell types, may facilitate the leap from developing targeted therapies towards establishment of tumor preventative measures.
Topics: Adrenal Gland Neoplasms; Genetic Predisposition to Disease; Genotype; Humans; Paraganglioma; Phenotype; Pheochromocytoma
PubMed: 29362886
DOI: 10.1007/s00441-017-2760-3 -
Medicine Nov 2023Paragangliomas are rare and can occur in many places throughout the body, but mediastinal paragangliomas are even rarer, accounting for less than 0.3% of mediastinal... (Review)
Review
RATIONAL
Paragangliomas are rare and can occur in many places throughout the body, but mediastinal paragangliomas are even rarer, accounting for less than 0.3% of mediastinal masses. Extremely susceptible to misdiagnosis and mistreatment, which may lead to the death of the patient.
PATIENT CONCERNS
We report a case of a giant paraganglioma of the middle mediastinum. A 40-year-old woman was admitted to the hospital with a rib fracture and a chest computed tomography suggesting a giant occupying tumor in the middle mediastinum.
DIAGNOSIS
Immunohistochemistry revealed positive for S100 fraction and Syn, focally positive for CgA, while negative for CKp and succinate dehydrogenase complex iron sulfur subunit B gene, and Ki67index ≈ 5%. The imaging and immunohistochemical features suggested a final diagnosis of Paragangliomas.
INTERVENTIONS
This patient underwent lateral open heart surgery to remove a mediastinal mass.
OUTCOMES
One month after being discharged, the patient was contacted by phone for a follow-up visit and reported feeling OK. Unfortunately, as of the date of submission, the patient did not come to our hospital for review.
LESSONS
Mediastinal paraganglioma as a rare and potentially malignant tumor susceptible to misdiagnosis and mistreatment. Organ pathology examination is the gold standard for diagnosis, and surgery is an important treatment method. A clear diagnosis and thorough preoperative examination are important guarantees for the success of surgery.
Topics: Female; Humans; Adult; Mediastinum; Paraganglioma; Paraganglioma, Extra-Adrenal; Mediastinal Neoplasms; Tomography, X-Ray Computed
PubMed: 38013330
DOI: 10.1097/MD.0000000000036327 -
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 -
F1000Research 2018Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare chromaffin cell tumors (PPGLs) that at times raise significant challenges in clinical recognition, diagnosis,... (Review)
Review
Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare chromaffin cell tumors (PPGLs) that at times raise significant challenges in clinical recognition, diagnosis, and therapy and when undiagnosed could associate with severe morbidity. Recent discoveries in PPGL genetics propelled our understanding in the pathophysiology of tumorigenesis and allowed the application of functional classification of pathogenetically distinct groups of PPGLs. This also resulted in a qualitative change in our approach to clinical assessment, diagnosis, and therapy of different subgroups of PPGLs. Establishment of the fact that mutations in multiple components of the PHD-VHL-HIF-2α pathway associate with pseudohypoxia-driven tumorigenesis allowed us not only to better understand the effect of this phenomenon but also to more deeply appreciate the value of functional abnormalities in the physiologic tissue oxygen-sensing mechanism. Mutations in the tricarboxylic acid cycle-related genes opened an additional window into understanding the physiology of one of the basic cellular metabolic pathways and consequences of its disruption. Mutations in the kinase signaling-related genes allow the PPGL field to join a massive innovative process in therapeutic advances in current oncology. New pathophysiologically distinct groups of mutations will widen and deepen our understanding of additional pathways in PPGL tumorigenesis and hopefully introduce additional diagnostic and therapeutic approaches. All of these developments are tremendously important in our understanding of both the normal physiology and pathophysiology of PPGLs and are strong tools and stimuli in the development of modern approaches to all components of medical management.
Topics: Citric Acid Cycle; Humans; Metabolic Networks and Pathways; Mutation; Paraganglioma; Pheochromocytoma
PubMed: 30345003
DOI: 10.12688/f1000research.14568.1