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Acta Biochimica Polonica Sep 2023Pheochromocytoma (PPC) and paraganglioma (PGL) are the tumors that rarely occur in the pediatric population (PPGL). Both originate from chromaffin cells,...
Pheochromocytoma (PPC) and paraganglioma (PGL) are the tumors that rarely occur in the pediatric population (PPGL). Both originate from chromaffin cells, pheochromocytoma is localized in the adrenal gland, whereas paragangliomas are regarded as the tumors present in other localizations, from head to the pelvis. The clinical image is characterized by the presence of the sustained hypertension, headaches, sweating, palpitations. The symptoms are caused by the catecholamine secretion or are related to tumor mass pressure on different organs. The catecholamines and their metabolites levels in urine collection or plasma are necessary for further evaluation of the diagnosis. In pediatric population the tumors occur in multiple familial syndromes such as Multiple Endocrine type 2, Neurofibromatosis type 1, Von Hippel-Lindau syndrome, Familial Paraganglioma syndrome are related to specific mutations (SDHx, RET, VHL, NF1) leading to the characteristic phenotype. The radiological and nuclear imaging are an important part of the examination. Although CT and MR are reported to have overall good sensitivity for the tumor detection, further analysis with nuclear imaging is recommended for the specified diagnosis. Right now 68GA-DOTATATE is regarded as the tracer of choice, leading to the complex evaluation of patients with different mutations and metastatic disease. The treatment of choice is the tumor excision. Also, lately new therapeutic approaches including genetically targeted therapies are under investigation for more complex treatment of tumors with underlying genetic cause or metastatic disease. Long term follow-up after treatment to avoid recurrence or to detect it in early stadium must be performed.
Topics: Child; Humans; Adolescent; Pheochromocytoma; Paraganglioma; Biological Transport; Catecholamines; Adrenal Gland Neoplasms
PubMed: 37717273
DOI: 10.18388/abp.2020_6955 -
Frontiers in Endocrinology 2021
Topics: Adrenal Gland Neoplasms; Carcinogenesis; Combined Modality Therapy; Endocrinology; Humans; Molecular Targeted Therapy; Mutation; Pheochromocytoma; Preoperative Care; Prognosis; Receptors, G-Protein-Coupled; Risk Assessment; Succinate Dehydrogenase; Tumor Hypoxia
PubMed: 34497588
DOI: 10.3389/fendo.2021.720983 -
Annals of African Medicine 2021Pheochromocytomas are catecholamine-producing tumors presenting with various clinical symptoms and a serious potentially lethal cardiovascular complications due to the...
INTRODUCTION
Pheochromocytomas are catecholamine-producing tumors presenting with various clinical symptoms and a serious potentially lethal cardiovascular complications due to the potent effects of secreted catecholamines. Glucoregulation disorders could also occur leading to impaired glucose tolerance and diabetes mellitus. The aim of our study was to determine the effects of adrenalectomy on patient recovery with regard to their glycemic status.
MATERIALS AND METHODS
Case notes of all patients who underwent adrenalectomy surgery for pheochromocytoma from 2009 to 2018, followed up in the Department of Diabetology, Endocrinology, and Nutrition at University Hospital Center Hassan II of Fez, were retrieved, and data were collected from them to identify those with preoperative diagnosis of glucoregulation disorder and to verify if adrenalectomy can reverse or improve glycemic abnormality.
RESULTS
Overall, 23 patients underwent surgery for pheochromocytoma, 26% of cases had diabetes mellitus, whereas 34.78% had glucose intolerance. One year after surgery, diabetes and glucose intolerance were cured in 57.14% of cases. We noticed also that patients with large and symptomatic tumors were more likely to develop preoperative diabetes; it was also more likely to persist in patients who had an elevated body mass index (BMI).
CONCLUSIONS
In our data, diabetes and glucose intolerance were found concurrently with pheochromocytoma in 60.78% of patients. Thus, it is important for clinicians to screen for glycemic disorder when pheochromocytoma is diagnosed, especially in patients with other risk factors for developing type 2 diabetes such as elevated BMI. Removal of these tumors can reduce insulin secretion and severe peripheral insulin resistance making early diagnosis important.
Topics: Adrenal Gland Neoplasms; Adrenalectomy; Adult; Blood Glucose; Catecholamines; Diabetes Mellitus, Type 2; Female; Glucose Intolerance; Humans; Insulin Resistance; Male; Middle Aged; Pheochromocytoma; Postoperative Care; Preoperative Care; Retrospective Studies; Treatment Outcome
PubMed: 33727511
DOI: 10.4103/aam.aam_13_20 -
Clinical and Experimental Hypertension... Dec 2023Pheochromocytoma is a rare tumor frequently overlooked mainly due to the wide range of its clinical presentation, which may vary from entirely untypical signs and... (Review)
Review
BACKGROUND
Pheochromocytoma is a rare tumor frequently overlooked mainly due to the wide range of its clinical presentation, which may vary from entirely untypical signs and symptoms to life-threatening complications.
METHODS
The present study aims to present a case series recently treated in our center, with emphasis placed on patients' specific characteristics, clinical presentation and diagnostic evaluation. Relevant literature and current guidelines are being briefly reviewed to summarize screening for pheochromocytoma and appropriate diagnostic procedures.
RESULTS
While the classic symptoms include headache, palpitations and sweating with permanent or paroxysmal hypertension, a wide range of clinical manifestations may be attributed to pheochromocytoma. The initial screening test is measurement of plasma or 24-hour urine metanephrine levels. Abdominal computerized tomography with intravenous contrast infusion is suggested as the imaging examination of choice, whereas magnetic resonance imaging should be preferred over CT in exceptional cases. 123I-metaiodobenzylguanidine scintigraphy is particularly useful for establishing the diagnosis of pheochromocytoma and should be further applied to detect or exclude possible metastatic lesions.
CONCLUSION
Early diagnosis of pheochromocytoma is of great significance not only because it represents a curable form of secondary hypertension, but also because it is often related to familial syndromes, malignancy or metastatic disease. Physicians need to be familiar with relevant clinical manifestations and diagnostic steps to raise clinical suspiction of pheochromocytoma and establish a timely diagnosis.
Topics: Humans; Pheochromocytoma; Adrenal Gland Neoplasms; Hypertension; Tomography, X-Ray Computed; 3-Iodobenzylguanidine
PubMed: 36218060
DOI: 10.1080/10641963.2022.2132012 -
Ugeskrift For Laeger Apr 2023In this case report, a 56-year-old woman presented to the emergency department with rapid onset dyspnoea, hypertension, tachycardia, hypoxaemia, and pulmonary oedema. A...
In this case report, a 56-year-old woman presented to the emergency department with rapid onset dyspnoea, hypertension, tachycardia, hypoxaemia, and pulmonary oedema. A chest radiography revealed severe bilateral infiltrations and pulmonary oedema. Subsequent computertomography showed left-sided adrenal tumour and blood samples severely increased catecholamines. The patient received treatment including beta-blocking agents and developed severe heart failure. After stabilisation the patient underwent surgical resection of the tumour and left kidney. Pathological assessment revealed the diagnosis of pheochromocytoma.
Topics: Female; Humans; Middle Aged; Pulmonary Edema; Pheochromocytoma; Adrenal Gland Neoplasms; Hypertension; Dyspnea
PubMed: 37114590
DOI: No ID Found -
Frontiers in Endocrinology 2023
Topics: Humans; Pheochromocytoma; Paraganglioma; Adrenal Gland Neoplasms
PubMed: 37383393
DOI: 10.3389/fendo.2023.1227543 -
Reviews in Endocrine & Metabolic... Feb 2023Diagnosis of pheochromocytoma or paraganglioma (PPGL) in pregnancy has been associated historically with high rates of materno-fetal morbidity and mortality. Recent... (Review)
Review
Diagnosis of pheochromocytoma or paraganglioma (PPGL) in pregnancy has been associated historically with high rates of materno-fetal morbidity and mortality. Recent evidence suggests outcomes are improved by recognition of PPGL before or during pregnancy and appropriate medical management with alpha-blockade. Whether antepartum surgery (before the third trimester) is required remains controversial and open to case-based merits. Women with PPGL in pregnancy are more commonly delivered by Caesarean section, although vaginal delivery appears to be safe in selected cases. At least some PPGLs express the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) which may explain their dramatic manifestation in pregnancy. PPGLs in pregnancy are often associated with heritable syndromes, and genetic counselling and testing should be offered routinely in this setting. Since optimal outcomes are only achieved by early recognition of PPGL in (or ideally before) pregnancy, it is incumbent for clinicians to be aware of this diagnosis in a pregnant woman with hypertension occurring before 20 weeks' gestation, and acute and/or refractory hypertension particularly if paroxysmal and accompanied by sweating, palpitations and/or headaches. All women with a past history of PPGL and/or heritable PPGL syndrome should be carefully assessed for the presence of residual or recurrent disease before considering pregnancy.
Topics: Pregnancy; Humans; Female; Pheochromocytoma; Cesarean Section; Paraganglioma; Adrenal Gland Neoplasms; Hypertension
PubMed: 36637675
DOI: 10.1007/s11154-022-09773-2 -
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 -
Endocrine Reviews May 2024Pheochromocytomas/paragangliomas are unique in their highly variable molecular landscape driven by genetic alterations, either germline or somatic. These mutations... (Review)
Review
Pheochromocytomas/paragangliomas are unique in their highly variable molecular landscape driven by genetic alterations, either germline or somatic. These mutations translate into different clusters with distinct tumor locations, biochemical/metabolomic features, tumor cell characteristics (eg, receptors, transporters), and disease course. Such tumor heterogeneity calls for different imaging strategies in order to provide proper diagnosis and follow-up. This also warrants selection of the most appropriate and locally available imaging modalities tailored to an individual patient based on consideration of many relevant factors including age, (anticipated) tumor location(s), size, and multifocality, underlying genotype, biochemical phenotype, chance of metastases, as well as the patient's personal preference and treatment goals. Anatomical imaging using computed tomography and magnetic resonance imaging and functional imaging using positron emission tomography and single photon emission computed tomography are currently a cornerstone in the evaluation of patients with pheochromocytomas/paragangliomas. In modern nuclear medicine practice, a multitude of radionuclides with relevance to diagnostic work-up and treatment planning (theranostics) is available, including radiolabeled metaiodobenzylguanidine, fluorodeoxyglucose, fluorodihydroxyphenylalanine, and somatostatin analogues. This review amalgamates up-to-date imaging guidelines, expert opinions, and recent discoveries. Based on the rich toolbox for anatomical and functional imaging that is currently available, we aim to define a customized approach in patients with (suspected) pheochromocytomas/paragangliomas from a practical clinical perspective. We provide imaging algorithms for different starting points for initial diagnostic work-up and course of the disease, including adrenal incidentaloma, established biochemical diagnosis, postsurgical follow-up, tumor screening in pathogenic variant carriers, staging and restaging of metastatic disease, theranostics, and response monitoring.
Topics: Humans; Pheochromocytoma; Adrenal Gland Neoplasms; Paraganglioma; Magnetic Resonance Imaging; Positron-Emission Tomography
PubMed: 38206185
DOI: 10.1210/endrev/bnae001 -
Cancer Metastasis Reviews Dec 2021Pheochromocytoma (PHEO) and paraganglioma (PGL) (together PPGL) are tumors with poor outcomes that arise from neuroendocrine cells in the adrenal gland, and sympathetic... (Review)
Review
Pheochromocytoma (PHEO) and paraganglioma (PGL) (together PPGL) are tumors with poor outcomes that arise from neuroendocrine cells in the adrenal gland, and sympathetic and parasympathetic ganglia outside the adrenal gland, respectively. Many follow germline mutations in genes coding for subunits of succinate dehydrogenase (SDH), a tetrameric enzyme in the tricarboxylic acid (TCA) cycle that both converts succinate to fumarate and participates in electron transport. Germline SDH subunit B (SDHB) mutations have a high metastatic potential. Herein, we review the spectrum of model organisms that have contributed hugely to our understanding of SDH dysfunction. In Saccharomyces cerevisiae (yeast), succinate accumulation inhibits alpha-ketoglutarate-dependent dioxygenase enzymes leading to DNA demethylation. In the worm Caenorhabditis elegans, mutated SDH creates developmental abnormalities, metabolic rewiring, an energy deficit and oxygen hypersensitivity (the latter is also found in Drosophila melanogaster). In the zebrafish Danio rerio, sdhb mutants display a shorter lifespan with defective energy metabolism. Recently, SDHB-deficient pheochromocytoma has been cultivated in xenografts and has generated cell lines, which can be traced back to a heterozygous SDHB-deficient rat. We propose that a combination of such models can be efficiently and effectively used in both pathophysiological studies and drug-screening projects in order to find novel strategies in PPGL treatment.
Topics: Adrenal Gland Neoplasms; Animals; Drosophila melanogaster; Germ-Line Mutation; Humans; Paraganglioma; Pheochromocytoma; Rats; Succinates; Zebrafish
PubMed: 34957538
DOI: 10.1007/s10555-021-10009-z