Pheochromocytoma

2018 ◽  
Author(s):  
Ralph J. Beltran
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Pediatric Patients ◽  
Signs And Symptoms ◽  
Benign Disease ◽  
Rare Type ◽  
Von Hippel Lindau ◽  
Episodic Headache ◽  
Von Hippel Lindau Disease ◽  
Hereditary Conditions

Pheochromocytoma is a rare type of neoplasm diagnosed in children. It originates in the adrenal gland and is different from paragangliomas which arise outside the adrenals. Both types of tumors arise from neural crest cells and lead to signs and symptoms related to hypersecretion of catecholamines. Related symptoms include hypertension, tachycardia, episodic headache, sweating, and abdominal pain. These tumors may be associated with multiple endocrine type 2 syndrome, multiple endocrine neoplasia, and von Hippel-Lindau disease, among other hereditary conditions. Pheochromocytomas can be malignant in nature but may be indistinguishable from benign disease histologically and functionally. When malignant, they present with regional invasion or distant metastasis. Conditions presenting as sympathetic overactivity in pediatric patients can resemble pheochromocytoma (i.e., panic disorder, amphetamine consumption).

Plasma Normetanephrine and Metanephrine for Detecting Pheochromocytoma in von Hippel–Lindau Disease and Multiple Endocrine Neoplasia Type 2

1999 ◽  
Vol 340 (24) ◽  
pp. 1872-1879 ◽  
Author(s):  
Graeme Eisenhofer ◽  
Jacques W.M. Lenders ◽  
W. Marston Linehan ◽  
McClellan M. Walther ◽  
David S. Goldstein ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Von Hippel Lindau ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Von Hippel Lindau Disease

scholarly journals Functioning Thoracic Paraganglioma: Association with Von Hippel-Lindau Syndrome*

1997 ◽  
Vol 82 (10) ◽  
pp. 3356-3360
Author(s):  
Bernhard U. Bender ◽  
Carsten Altehöfer ◽  
Andrzej Januszewicz ◽  
Roland Gärtner ◽  
Heinrich Schmidt ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Germline Mutations ◽  
Von Hippel Lindau ◽  
Men 2 ◽  
Associated Lesions ◽  
Adrenal Pheochromocytoma ◽  
Von Hippel Lindau Disease ◽  
Von Hippel Lindau Syndrome

Abstract Functioning thoracic paraganglioma (pheochromocytoma) is unusual and therefore suggestive of a pathogenesis distinct from that of sporadic adrenal pheochromocytoma. To determine whether the pheochromocytoma-associated syndromes Von Hippel-Lindau disease (VHL) and multiple endocrine neoplasia type 2 (MEN 2) play a role in the development of thoracic functioning paragangliomas, germline DNA from five unselected patients with this rare tumor was analyzed for mutations in the genes that predispose to VHL and MEN 2. Genetic investigations and further clinical data revealed that three had VHL, with two different germline mutations of the vhl gene, but no individual was affected by MEN 2. Two of the three patients with VHL did not show any additional VHL-associated lesions. This result suggests that VHL should be considered in the differential diagnosis of thoracic pheochromocytoma, as such a diagnosis carries further important implications for the patient and family. Conversely, in patients suspected of a catecholamine-secreting tumor and known VHL, thoracic localization should be considered if an adrenal pheochromocytoma cannot be detected.

Pheochromocytomas, Multiple Endocrine Neoplasia Type 2, and von Hippel-Lindau Disease

1993 ◽  
Vol 329 (21) ◽  
pp. 1531-1538 ◽  
Author(s):  
Hartmut Neumann ◽  
Dietmar P. Berger ◽  
Gunther Sigmund ◽  
Ulrich Blum ◽  
Dieter Schmidt ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Von Hippel Lindau ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
Von Hippel Lindau Disease

scholarly journals Novel genotype–phenotype correlations in five Chinese families with Von Hippel–Lindau disease

2018 ◽  
Vol 7 (7) ◽  
pp. 870-878 ◽  
Author(s):  
Qiuli Liu ◽  
Gang Yuan ◽  
Dali Tong ◽  
Gaolei Liu ◽  
Yuting Yi ◽  
...  
Keyword(s):  
Malignant Neoplasms ◽  
Missense Mutations ◽  
Chinese Families ◽  
Von Hippel Lindau ◽  
Disease Phenotypes ◽  
Mri Scans ◽  
Von Hippel Lindau Disease ◽  
Vhl Disease

Context Von Hippel–Lindau (VHL) disease manifests as a variety of benign and malignant neoplasms. Previous studies of VHL disease have documented several genotype–phenotype correlations; however, many such correlations are still unknown. Increased identification of new mutations and patients with previously described mutations will allow us to better understand how VHL mutations influence disease phenotypes. Patients and design A total of 45 individuals from five unrelated families were evaluated, of which 21 patients were either diagnosed with VHL disease or showed strong evidence related to this disease. We compared the patients’ gene sequencing results with their medical records including CT or MRI scans, eye examinations and laboratory/pathological examinations. Patients were also interviewed to obtain information regarding their family history. Results We identified four missense mutations: c.239G>T (p.Ser80Ile), linked with VHL Type 2B, was associated with renal cell carcinoma, pheochromocytoma and hemangioma in the cerebellum; c.232A>T (p.Asn78Tyr) manifested as RCC alone and likely caused VHL Type 1; c.500G>A (p.Arg167Gln) mutation was more likely to cause VHL Type 2 than Type 1 as it preferentially induced Pheo and HB in the retina, cerebellum and spinal cord; c.293A>G (p.Try98Cys) was associated with Pheo and thus likely induced VHL Type 2. Conclusions Characterizing VHL disease genotype–phenotype correlations can enhance the ability to predict the risk of individual patients developing different VHL-related phenotypes. Ultimately, such insight will improve the diagnostics, surveillance and treatment of VHL patients. Precis Four missense mutations in VHL have been identified in 21 individuals when five unrelated Chinese families with VHL disease were analyzed; VHL mutations are highly associated with unique disease phenotypes.

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