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Current Cardiology Reports Jul 2019Pheochromocytomas and paragangliomas (PCC/PGL) are neuroendocrine tumors of the adrenal medulla and extra-adrenal ganglia which often over-secrete catecholamines leading... (Review)
Review
Pheochromocytomas and paragangliomas (PCC/PGL) are neuroendocrine tumors of the adrenal medulla and extra-adrenal ganglia which often over-secrete catecholamines leading to cardiovascular morbidity and even mortality. These unique tumors have the highest heritability of all solid tumor types with up to 35-40% of patients with PCC/PGL having a germline predisposition. PURPOSE OF REVIEW: To review the germline susceptibility genes and clinical syndromes associated with PCC/PGL. RECENT FINDINGS: There are over 12 PCC/PGL susceptibility genes identified in a wide range of pathways. Each gene is associated with a clinical syndrome with varying penetrance for both primary and metastatic PCC/PGL and often includes increased risk for additional tumors besides PCC/PGL. Patients with sporadic or hereditary PCC/PGL should be monitored for life given the risk of multiple primary tumors, recurrence, and metastatic disease. All patients with PCC/PGL should be referred for consideration for clinical genetic testing given the high heritability of disease.
Topics: Adrenal Gland Neoplasms; Cardiovascular Diseases; Genetic Predisposition to Disease; Genetic Testing; Germ-Line Mutation; Humans; Mass Screening; Multiple Endocrine Neoplasia Type 2a; Neurofibromatosis 1; Paraganglioma; Pheochromocytoma; Syndrome; von Hippel-Lindau Disease
PubMed: 31367972
DOI: 10.1007/s11886-019-1184-y -
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 -
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 -
Annals of Oncology : Official Journal... Nov 2020
Topics: Adrenal Cortex Neoplasms; Adrenal Gland Neoplasms; Adrenocortical Carcinoma; Follow-Up Studies; Humans; Pheochromocytoma
PubMed: 32861807
DOI: 10.1016/j.annonc.2020.08.2099 -
Der Pathologe Dec 2019
Review
Topics: Adrenal Gland Neoplasms; Humans; Pheochromocytoma
PubMed: 31588958
DOI: 10.1007/s00292-019-00663-0 -
Endocrine Sep 2019Takotsubo syndrome (TS), also known as neurogenic stunned myocardium or broken heart syndrome, is a recognized acute cardiac syndrome. In about 70% of cases, the... (Review)
Review
Takotsubo syndrome (TS), also known as neurogenic stunned myocardium or broken heart syndrome, is a recognized acute cardiac syndrome. In about 70% of cases, the syndrome is preceded by an emotional or a physical stressor. Among the innumerable physical trigger factors that may induce TS are pheochromocytomas and paragangliomas (PPGLs). PPGL-associated cardiovascular complications as "myocarditis", "myocardial infarction", "reversible cardiomyopathies", and "transient repolarization electrocardiographic changes" have been described since more than 70 years. During the last two decades, dozens of cases of PPGL-induced TS have been reported. PPGLs display increased catecholamine levels, sometimes massively elevated, which may trigger TS, most likely through hyperactivation of sympathetic nervous system including the cardiac sympathetic nerve terminal disruption with norepinephrine seethe and spillover. PPGL-induced TS is characterized by a dramatic clinical presentation with hemodynamic compromise and high complication rates. The prevalence of global and apical sparing pattern of TS in PPGL-induced TS is significantly higher than in other TS populations. In this report, the associations of PPGL-induced cardiovascular complications are analyzed, and clinical features, complications, outcome and treatment of PPGL-induced TS are reviewed.
Topics: Adrenal Gland Neoplasms; Humans; Paraganglioma; Pheochromocytoma; Takotsubo Cardiomyopathy
PubMed: 31399912
DOI: 10.1007/s12020-019-02035-3 -
Surgical Pathology Clinics Dec 2019Pheochromocytomas and extra-adrenal paragangliomas are rare neuroendocrine neoplasms with characteristic histologic and immunohistochemical features. These tumors can... (Review)
Review
Pheochromocytomas and extra-adrenal paragangliomas are rare neuroendocrine neoplasms with characteristic histologic and immunohistochemical features. These tumors can arise in several anatomic locations, necessitating that their diagnostic recognition extends beyond the realm of endocrine disorders. A practical and reproducible risk stratification system for these tumors is still in development. In this rapidly evolving era of molecular medicine, it is essential for pathologists to equip themselves with a framework for understanding the classification of paragangliomas and pheochromocytomas and be informed of how they might advise their colleagues with regard to prognostication and appropriate follow-up.
Topics: Adrenal Gland Neoplasms; Biomarkers, Tumor; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Immunohistochemistry; Mutation; Neoplasm Grading; Paraganglioma; Pheochromocytoma; Succinate Dehydrogenase
PubMed: 31672301
DOI: 10.1016/j.path.2019.08.009 -
Acta Chirurgica Belgica Oct 2023Pheochromocytoma is a rare catecholamine-secreting tumor of neuroendocrine origin. It has a prevalence of <1% in adults with hypertension. In some cases, hypertension is...
BACKGROUND
Pheochromocytoma is a rare catecholamine-secreting tumor of neuroendocrine origin. It has a prevalence of <1% in adults with hypertension. In some cases, hypertension is associated with the classical triad of headache, sweating, and tachycardia. Cardiogenic shock due to stress-induced cardiomyopathy caused by catecholamine excess may rarely be the initial symptom of pheochromocytoma, mimicking Takotsubo Syndrome.
METHODS
We report the case of a 58-year-old female patient with pheochromocytoma-induced cardiogenic shock (PICS) in the early postoperative period after thyroidectomy.
RESULTS
PICS is caused by a catecholamine storm, which induces myocardial stress and cardiac dysfunction. In such cases, early management with mechanical circulatory assistance may be promptly considered, given the increased risk of mortality.
CONCLUSION
PICS is a rare and serious condition. Prompt diagnosis and adequate resuscitation measures are necessary to avoid high mortality.
Topics: Adult; Female; Humans; Middle Aged; Pheochromocytoma; Shock, Cardiogenic; Catecholamines; Adrenal Gland Neoplasms; Hypertension
PubMed: 35583372
DOI: 10.1080/00015458.2022.2079822 -
Problemy Endokrinologii Oct 2023Currently, all pheochromocytoma/paraganglioma (PPGLs) are considered malignant due to metastatic potential. Consequently, PPGLs are divided into «metastatic» and... (Review)
Review
Currently, all pheochromocytoma/paraganglioma (PPGLs) are considered malignant due to metastatic potential. Consequently, PPGLs are divided into «metastatic» and «non-metastatic». Metastatic PPGLs can be with synchronous metastasis (metastases appear simultaneously with the identified primary tumor) or metachronous (metastases develop after removal of the primary tumor). The term metastatic PPGLs is not used in the presence of tumor invasion into surrounding organs and tissues, without the presence of distant metastases of lymphogenic or hematogenic origin. It is generally believed that about 10% of pheochromocytomas and about 40% of sympathetic paragangliomas have metastatic potential. On average, the prevalence of PPGLs with the presence of metastases is 15-20%. Risk factors for metastatic PPGLs are widely discussed in the literature, the most significant of which are groups of clinical, morphological and genetic characteristics. The review presents a discussion of such risk factors for metastatic PPGLs as age, localization and type of hormonal secretion of the tumor, the size and growth pattern of the adrenal lesion, the presence of necrosis and invasion into the vessels, the tumor capsule surrounding adipose tissue, high cellular and mitotic activity, Ki-67 index, expression of chromogranin B and S100 protein, the presence of genetic mutations of three main clusters (pseudohypoxia, kinase signaling and Wnt signaling).Over the past two decades, a number of authors have proposed various predictor factors and scales for assessing a probability of metastatic PPGLs. The review contains detailed description and comparison of sensitivity and specificity of such predictor scales as PASS, GAPP, M-GAPP, ASES and COPPS.
Topics: Humans; Pheochromocytoma; Adrenal Gland Neoplasms; Risk Factors; Paraganglioma; Neoplasm Metastasis
PubMed: 38796759
DOI: 10.14341/probl13331 -
Cancer Medicine Jul 2023Pheochromocytomas (PCCs) are rare neuroendocrine tumors derived from the chromaffin cells of the adrenal medulla. When these tumors have an extra-adrenal location, they... (Review)
Review
Pheochromocytomas (PCCs) are rare neuroendocrine tumors derived from the chromaffin cells of the adrenal medulla. When these tumors have an extra-adrenal location, they are called paragangliomas (PGLs) and arise from sympathetic and parasympathetic ganglia, particularly of the para-aortic location. Up to 25% of PCCs/PGLs are associated with inherited genetic disorders. The majority of PCCs/PGLs exhibit indolent behavior. However, according to their affiliation to molecular clusters based on underlying genetic aberrations, their tumorigenesis, location, clinical symptomatology, and potential to metastasize are heterogenous. Thus, PCCs/PGLs are often associated with diagnostic difficulties. In recent years, extensive research revealed a broad genetic background and multiple signaling pathways leading to tumor development. Along with this, the diagnostic and therapeutic options were also expanded. In this review, we focus on the current knowledge and recent advancements in the diagnosis and treatment of PCCs/PGLs with respect to the underlying gene alterations while also discussing future perspectives in this field.
Topics: Humans; Pheochromocytoma; Paraganglioma; Carcinogenesis; Cell Transformation, Neoplastic; Adrenal Gland Neoplasms
PubMed: 37145019
DOI: 10.1002/cam4.6010