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Concept: Pheochromocytoma

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Takotsubo cardiomyopathy is seen, though rarely, in anaphylaxis treated with epinephrine. Stress cardiomyopathy is most likely to occur in middle-aged women. The underlying etiology is believed to be related to catecholamine release in periods of intense stress. Catecholamines administered exogenously, and those secreted by neuroendocrine tumors (e.g., pheochromocytoma) or during anaphylaxis have been reported to cause apical ballooning syndrome, or takotsubo syndrome. However, reverse takotsubo stress cardiomyopathy is rarely seen or reported in anaphylaxis treated with epinephrine.

Concepts: Cardiomyopathy, Neuroendocrine tumor, Epinephrine, Norepinephrine, Cardiovascular diseases, Pheochromocytoma, Catecholamine, Takotsubo cardiomyopathy

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Multiple endocrine neoplasia type 2 (MEN2) refers to the autosomal dominant neuroendocrine tumour syndromes, MEN type 2A (MEN2A) and MEN type 2B (MEN2B). They are typified by the development of medullary thyroid carcinoma (MTC), phaeochromocytoma and parathyroid hyperplasia in MEN2A, and MTC, phaeochromocytomas, ganglioneuromatosis and skeletal abnormalities in MEN2B. The aggressiveness of MTC is variable according to genotype, and although it is still the major cause of mortality in both conditions, prognosis has improved dramatically in those diagnosed and treated at a young age thanks to predictive genetic testing. Nevertheless, metastatic MTC, ganglioneuromatosis and a variety of other negative clinical and psychosocial impacts on quality of life and/or prognosis in MEN2 persist. In the absence at time of writing of any large scale research into quality of life specifically in MEN2, this review includes data from patient surveys and anonymised patient anecdotes from the records of the Association for Multiple Endocrine Neoplasia Disorders (AMEND), for whom the authors work. We recommend that these patients are cared for only in centres of expertise able to provide expert diagnosis, treatment and continuity of care, including psychological and transition support. Only in this way can the clinical advances of the last two and half decades be built upon further to ensure that the care of these complex, lifelong patients can be considered truly holistic.

Concepts: Cancer, Oncology, Endocrinology, Thyroid, Multiple endocrine neoplasia, RET proto-oncogene, Multiple endocrine neoplasia type 2, Pheochromocytoma

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Pheochromocytomas are catecholamine-secreting tumors. These tumors are rare in children, and they may be associated with hereditary syndromes such as von Hippel-Lindau (VHL) disease. Most pediatric patients with pheochromocytoma present with sustained hypertension, while 10% to 69% of adult patients are asymptomatic. Herein, we present the case of a 12-yr-old Japanese girl with pheochromocytoma due to a germline mutation in the VHL (Arg161Gln). The only complaint was loss of weight. Pyrexia, anemia, and increases in C-reactive protein (CRP) and ferritin were observed. Abdominal ultrasonography revealed a right adrenal gland tumor. Fractionated catecholamines and metanephrines in plasma and 24-h collected urine revealed elevated levels of norepinephrine and normetanephrine. Although hypertension and tachycardia were inapparent by an ordinary physical examination, paroxysmal mild hypertension and tachycardia were identified by a thorough examination after walking and abdominal compression. Paroxysmal hypertension and tachycardia were profound during operation. In conclusion, pheochromocytoma can be a consideration in the differential diagnosis of weight loss. Hypertension and tachycardia can be inapparent and paroxysmal in pediatric patients as well as in adults; thus, thorough assessment should be repeated.

Concepts: Cancer, Hypertension, Epinephrine, Von Hippel–Lindau disease, Von Hippel–Lindau tumor suppressor, Pheochromocytoma, Adrenal medulla, Catecholamine

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CLINICAL INTRODUCTION: A 44-year-old woman presents pain free to our ED after experiencing 45 min of tightening of the chest with radiation to her left arm, diaphoresis and nausea. Her vital signs are normal except for her high BP, which is 180/110. She reports recurrent episodes of chest pain in the past 1.5 weeks, unrelated to exercise. She visited a general practitioner who prescribed pain medication and treated her new-onset hypertension. Besides the recently found hypertension, heavy smoking is her only other traditional risk factor for cardiovascular disease.

Concepts: Medicine, Myocardial infarction, Obesity, Cardiovascular disease, Blood pressure, Cortisol, Acupuncture, Pheochromocytoma

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Pheochromocytomas and paragangliomas are rare tumors deriving from chromaffin cells of adrenal medulla or paraganglia. They are usually benign but 10-35% of them present malignant behavior. The aim of the study was to evaluate the efficacy and safety of 131-I MIBG therapy in malignant pheochromocytoma /paraganglioma patients (MPPGL).

Concepts: Epinephrine, Pheochromocytoma, Adrenal gland, Adrenal medulla, Chromaffin cell

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Paragangliomas and pheochromocytomas are rare catecholamine secreting neoplasms that arise in the extra-adrenal autonomic paraganglia and adrenal medulla, respectively. Although typically presenting with paroxysms of headaches, palpitations, diaphoresis and hypertension, a broad spectrum of clinical manifestations may occur. Diagnosis relies on biochemical studies followed by adequate imaging investigation. Cross sectional morphological and functional imaging modalities have improved diagnostic accuracy and are crucial in the surgical planning. The authors report on a case of a 64-year-old female that presented with severe hypertension, palpitations and fatigue as the manifestations of a catecholamine secreting neoplasm. Abdominal contrast enhanced computer tomography revealed a right sided 78 mm adrenal medullary tumor suggestive of a pheochromocytoma. Standard therapeutical strategies were initially unsuccessful, and additional investigation and therapy were required to cure the patient. The challenges faced by the multidisciplinary team in the pre-operative evaluation, medical management and surgical treatment are reported.

Concepts: Cancer, Hypertension, Medical imaging, Neoplasm, Epinephrine, Pheochromocytoma, Adrenal medulla, Catecholamine

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Pheochromocytomas are uncommon neuroendocrine tumors of the adrenal medulla. Malignant behavior is seen in approximately 10% of these lesions, evidenced by distant metastasis to sites without chromaffin tissue. The authors report a rare case of intracranial epidural metastases of an adrenal pheochromocytoma in a 24-year-old man. The patient originally presented at the age of 10 years with adrenal pheochromocytoma and subsequently developed extensive metastatic bone and lung disease. He was monitored in the intervening years until recent imaging demonstrated an enlarging right parietal mass. Upon surgical resection of the parietal lesion, the tumor was highly vascularized and confined to the epidural space. To the best of the authors' knowledge, this is the first case of metastatic epidural spread of pheochromocytoma without concomitant subdural or intraparenchymal extension reported to date.

Concepts: Cancer, Metastasis, Oncology, Lung cancer, Extracellular matrix, Neuroendocrine tumor, Pheochromocytoma, Adrenal medulla

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Medullary thyroid cancer (MTC) is a neuroendocrine tumour of the thyroid C cells. Pasireotide, a multi-receptor targeted somatostatin analogue, and everolimus, an inhibitor of mTOR, showed antitumour properties in neuroendocrine tumours. Aim of this study was to evaluate pasireotide alone and in combination with everolimus in patients with MTC.

Concepts: Cancer, Oncology, Brain tumor, Benign tumor, Tumor, Neoplasm, Neuroendocrine tumor, Pheochromocytoma

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Our objective was to investigate whether the quantitative measurement of venous phase enhancement on CT can distinguish a pheochromocytoma from an adrenal adenoma.

Concepts: Endocrinology, Phase, Epinephrine, Adenoma, Pheochromocytoma, Adrenal medulla

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Pheochromocytoma is a rare chromaffin cell tumor that is may be associated with a genetic predisposition, such as Von Hippel-Lindau (VHL) disease. VHL is an autosomal dominant disorder that is characterized by a predisposition to multiple tumors including retinal and central nervous system hemangioblastomas, renal cell carcinoma and pheochromocytomas. The classic presentation of pheochromocytoma is episodic hypertension, headaches, palpitations, and diaphoresis. In the pediatric population, 40% of pheochromocytomas have a hereditary basis. We present a case of metastatic pheochromocytoma in a child with VHL and discuss the relevant current medical literature.

Concepts: Central nervous system, Nervous system, Medicine, Genetics, Cancer, Brain, Hypertension, Pheochromocytoma