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Journal of Radiology Case Reports Aug 2019The carotid body is the largest collection of paraganglia in the head and neck and is found on the medial aspect of the carotid bifurcation bilaterally. Carotid body... (Review)
Review
The carotid body is the largest collection of paraganglia in the head and neck and is found on the medial aspect of the carotid bifurcation bilaterally. Carotid body tumors are rare neoplasms arising from the chemoreceptor cells of the carotid bulb. We report a case of carotid body tumor in a 42-year-old female, who presented with painless, pulsatile, gradually progressive lateral neck swelling. The diagnosis is suspected on the basis of history, clinical and radiological examination findings and a successful surgical excision of the tumor is performed. Histopathological examination confirms the diagnosis of carotid body tumor. We also present brief literature about carotid body tumors in terms of its clinical and imaging presentation, evaluation, and management.
Topics: Adult; Carotid Body Tumor; Computed Tomography Angiography; Contrast Media; Female; Humans; Magnetic Resonance Imaging; Tomography, X-Ray Computed; Ultrasonography, Doppler, Color
PubMed: 31558967
DOI: 10.3941/jrcr.v13i8.3681 -
Archives of Pathology & Laboratory... Aug 2015Thyroid paragangliomas are rare tumors that arise from the inferior laryngeal paraganglia. Most patients are female and present with an asymptomatic thyroid nodule.... (Review)
Review
Thyroid paragangliomas are rare tumors that arise from the inferior laryngeal paraganglia. Most patients are female and present with an asymptomatic thyroid nodule. Histologically, the tumor is composed of cells arranged in a well-defined nest (zellballen) pattern surrounded by a thin fibrovascular stroma. It is a diagnostic pitfall and is occasionally misdiagnosed as follicular neoplasm, medullary thyroid carcinoma, intrathyroid parathyroid proliferation, and especially secondary neuroendocrine tumors. Immunohistochemical stains (cytokeratin, parathyroid hormone, thyroid transcription factor 1, tyrosine hydroxylase, chromogranin A, synaptophysin, S100, calcitonin, carcinoembryonic antigen) are essential in establishing the diagnosis. Loss of succinate dehydrogenase complex, subunit B (SDHB), immunoexpression can be used to triage genetic testing because some mutations are associated with a higher risk for developing metastasis. Total thyroidectomy or lobectomy for solitary lesion is the preferred treatment. Elective lymph node dissection is usually not indicated. Postoperatively, patients should receive hormonal evaluation for functional disease and imaging for evaluation of multifocal or metastatic disease.
Topics: Adult; Female; Humans; Male; Middle Aged; Paraganglioma; Thyroid Neoplasms
PubMed: 26230601
DOI: 10.5858/arpa.2013-0703-RS -
BMJ Case Reports Feb 2014Paraganglioma are tumours arising from neural crest cells of the sympathetic and parasympathetic paraganglia. Functional paraganglioma presents with symptoms of...
Paraganglioma are tumours arising from neural crest cells of the sympathetic and parasympathetic paraganglia. Functional paraganglioma presents with symptoms of catecholamine excess that includes hypertension, flushing, diaphoresis, etc. Non-functional paraganglioma are usually found incidentally during imaging studies. Early diagnoses of functional paraganglioma are important because their removal is often curative. We present the case of a young man who presented with hypertensive crisis and severe headache, who was later found to have functional paraganglioma.
Topics: Abdominal Neoplasms; Headache; Humans; Hypertension; Kidney; Male; Paraganglioma; Young Adult
PubMed: 24557481
DOI: 10.1136/bcr-2013-203425 -
Cancers Feb 2019In this review, we propose that paraganglioma is a fundamentally organized, albeit aberrant, tissue composed of neoplastic vascular and neural cell types that share a... (Review)
Review
In this review, we propose that paraganglioma is a fundamentally organized, albeit aberrant, tissue composed of neoplastic vascular and neural cell types that share a common origin from a multipotent mesenchymal-like stem/progenitor cell. This view is consistent with the pseudohypoxic footprint implicated in the molecular pathogenesis of the disease, is in harmony with the neural crest origin of the paraganglia, and is strongly supported by the physiological model of carotid body hyperplasia. Our immunomorphological and molecular studies of head and neck paragangliomas demonstrate in all cases relationships between the vascular and the neural tumor compartments, that share mesenchymal and immature vasculo-neural markers, conserved in derived cell cultures. This immature, multipotent phenotype is supported by constitutive amplification of NOTCH signaling genes and by loss of the microRNA-200s and -34s, which control , , and in head and neck paraganglioma cells. Importantly, the neuroepithelial component is distinguished by extreme mitochondrial alterations, associated with collapse of the ΔΨm. Finally, our xenograft models of head and neck paraganglioma demonstrate that mesenchymal-like cells first give rise to a vasculo-angiogenic network, and then self-organize into neuroepithelial-like clusters, a process inhibited by treatment with imatinib.
PubMed: 30813557
DOI: 10.3390/cancers11030273 -
Frontiers in Endocrinology 2023Pheochromocytomas and Paragangliomas (Pheo/PGL) are rare catecholamine-producing tumours derived from adrenal medulla or from the extra-adrenal paraganglia respectively.... (Review)
Review
Pheochromocytomas and Paragangliomas (Pheo/PGL) are rare catecholamine-producing tumours derived from adrenal medulla or from the extra-adrenal paraganglia respectively. Around 10-15% of Pheo/PGL develop metastatic forms and have a poor prognosis with a 37% of mortality rate at 5 years. These tumours have a strong genetic determinism, and the presence of succinate dehydrogenase B (SDHB) mutations are highly associated with metastatic forms. To date, no effective treatment is present for metastatic forms. In addition to cancer cells, the tumour microenvironment (TME) is also composed of non-neoplastic cells and non-cellular components, which are essential for tumour initiation and progression in multiple cancers, including Pheo/PGL. This review, for the first time, provides an overview of the roles of TME cells such as cancer-associated fibroblasts (CAFs) and tumour-associated macrophages (TAMs) on Pheo/PGL growth and progression. Moreover, the functions of the non-cellular components of the TME, among which the most representatives are growth factors, extracellular vesicles and extracellular matrix (ECM) are explored. The importance of succinate as an oncometabolite is emerging and since Pheo/PGL SDH mutated accumulate high levels of succinate, the role of succinate and of its receptor (SUCNR1) in the modulation of the carcinogenesis process is also analysed. Further understanding of the mechanism behind the complicated effects of TME on Pheo/PGL growth and spread could suggest novel therapeutic targets for further clinical treatments.
Topics: Humans; Pheochromocytoma; Tumor Microenvironment; Paraganglioma; Adrenal Gland Neoplasms; Succinates
PubMed: 37033265
DOI: 10.3389/fendo.2023.1137456 -
Oncotarget Apr 2017Paragangliomas/pheochromocytomas comprise rare tumors that arise from the extra-adrenal paraganglia, with an incidence of about 2 to 8 per million people each year.... (Review)
Review
Paragangliomas/pheochromocytomas comprise rare tumors that arise from the extra-adrenal paraganglia, with an incidence of about 2 to 8 per million people each year. Approximately 40% of cases are due to genetic mutations in at least one out of more than 30 causative genes. About 25-30% of pheochromocytomas/paragangliomas develop under the conditions of a hereditary tumor syndrome a third of which are caused by mutations in the VHL gene. Together, the gene mutations in this disorder have implicated multiple processes including signaling pathways, translation initiation, hypoxia regulation, protein synthesis, differentiation, survival, proliferation, and cell growth. The present review contemplates the mutations associated with the development of pheochromocytomas/paragangliomas and their potential to serve as specific markers of these tumors and their progression. These data will improve our understanding of the pathogenesis of these tumors and likely reveal certain features that may be useful for early diagnostics, malignancy prognostics, and the determination of new targets for disease therapeutics.
Topics: Adrenal Gland Neoplasms; Animals; Biomarkers, Tumor; Cell Transformation, Neoplastic; Gene Expression Regulation, Neoplastic; Genetic Variation; Humans; Paraganglioma; Pheochromocytoma; Signal Transduction
PubMed: 28187001
DOI: 10.18632/oncotarget.15201