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NCI CANCERLIT^® Search: Pheochromocytoma - April 2002

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National Cancer Institute^®
Ultima Vez Modificado: 1 de abril del 2002

Anaesthesia for phaeochromocytoma removal in a 5-year-old boy.

Pheochromocytoma presenting as life-threatening pulmonary edema.

Spontaneous intracranial hemorrhage caused by pheochromocytoma in a child.

[Pheochromocytoma associated with cholelithiasis]

[Severe hypotension after removal of pheochromocytoma in a pediatric patient]

Pheochromocytoma in children.

Re: Ciftci et al "Pheochromocytoma in Children" (J Pediatr Surg 36:447-452, 2001).

What is the best diagnostic approach when pheochromocytoma is suspected?

False positive 131I-metaiodobenzylguanidine scan in the postoperative assessment of malignant phaeochromocytoma secondary to medullary

Features of malignancy in a benign pheochromocytoma.

Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type

Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.

Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals

Loss of heterozygosity on the short arm of chromosomes 1 and 3 in sporadic pheochromocytoma and extra-adrenal paraganglioma.

Sporadic pheochromocytomas are rarely associated with germline mutations in the vhl tumor suppressor gene or the ret protooncogene.

Germline mutations in the vhl gene in patients presenting with phaeochromocytomas.

Variable penetrance of familial pheochromocytoma associated with the von Hipple Lindau gene mutation, S68W. Mutations in brief no. 150. Online.

Von Hippel-Lindau disease: strategies in early detection (renal-, adrenal-, pancreatic masses).

Pheochromocytoma and clear-cell renal carcinoma in a child with von Hippel-Lindau disease: a patient report.

Increases in plasma ouabainlike immunoreactivity during surgical extirpation of pheochromocytoma.

Retinal abnormalities associated with a mutation of the nucleotide 683 in von Hippel-Lindau disease.

Genetic aspects of pheochromocytoma.

A family with von Hippel-Lindau disease revealed by pheochromocytoma.

Somatic VHL gene deletion and point mutation in MEN 2A-associated pheochromocytoma.

Asymptomatic bladder phaeochromocytoma in a 7-year-old boy.

I-123 MIBG imaging and intraoperative localization of metastatic pheochromocytoma: a case report.

[Pheochromocytoma presenting as acute heart failure]

Survivin: a novel neuroendocrine marker for pheochromocytoma.

[Usefulness of intraoperative 123I-MIBG during reoperation for malignant pheochromocytoma: a case report]

alpha-Blocker is effective in the improvement of cerebral angiopathy in a patient with pheochromocytoma.

Cerebrovascular event, dilated cardiomyopathy, and pheochromocytoma.

A large pheochromocytoma seen on dynamic bone scintigraphy.

A case of pheochromocytoma with renal artery stenosis and post-surgical watery diarrhea.

Problems with the management of a case of phaeochromocytoma: case report.

1
UI - 11882232
AU - Matsota P; Avgerinopoulou-Vlahou A; Velegrakis D
TI - Anaesthesia for phaeochromocytoma removal in a 5-year-old boy.
SO - Paediatr Anaesth 2002 Feb;12(2):176-80
AD - Department of Anaesthesiology, Children's Hospital, 'P & A Kyriakou', Athens, Greece.
We describe the case of a 5-year-old boy with phaeochromocytoma of the left adrenal gland, treated surgically by removal of the tumour under general anaesthesia. Phaeochromocytoma is a particularly rare tumour in children and surgical excision is the definitive treatment. We discuss the clinical and laboratory characteristics of the case, the diagnostic approach, the preoperative and intraoperative management and the postoperative course.

2
UI - 11720247
AU - Kaye J; Edlin S; Thompson I; Leedma PJ
TI - Pheochromocytoma presenting as life-threatening pulmonary edema.
SO - Endocrine 2001 Jul;15(2):203-4
AD - Department of Endocrinology and Diabetes, Royal Perth Hospital, Western Australia, Australia.
Acute cardiogenic pulmonary edema as the first presentation of pheochromocytoma is uncommon and usually rapidly fatal. A 39-yr-old man presented in acute cardiogenic shock with global ventricular dysfunction that required high-dose iv inotrope support and an intraaortic balloon pump assist device. Abdominal imaging to exclude aortic dissection revealed a 6-cm right adrenal mass. Significant myocardial infarction (electrocardiographic changes and elevated cardiac enzymes) contributed to the cardiac decompensation. After withdrawal of inotrope support, 24-h urinary catecholamine levels revealed 2,155 nmol/d (<125) of adrenaline and 7,437 nmol/d (<560) of noradrenaline, confirming a pheochromocytoma. The tumor was successfully removed at laparotomy; however, the patient's course was complicated by a thromboembolic cerebrovascular accident with paraplegia. He recovered cardiac function almost completely within 3 wk of medical therapy alone. Although uncommon, this case highlights the need to consider pheochromocytoma early in the management of unexplained cardiogenic shock.

3
UI - 11818748
AU - Chuang HL; Hsu WH; Hsueh C; Lin JN; Scott RM
TI - Spontaneous intracranial hemorrhage caused by pheochromocytoma in a child.
SO - Pediatr Neurosurg 2002 Jan;36(1):48-51
AD - Department of Pediatric Neurosurgery, Chang Gung Children's Hospital, Tauyuang, Taiwan, ROC. huoli@ms12.hinet.net
We report a 6-year-old boy who presented with left occipital spontaneous lobar hematoma and hypertension. Cerebral angiography failed to demonstrate a vascular malformation. Subsequently, a left adrenal tumor was found that proved to be a pheochromocytoma. This is the first report in the literature of a lobar hematoma in a child caused by a concomitant pheochromocytoma. In children with hypertension and resulting intracerebral hematoma, a pheochromocytoma should be considered in the differential diagnosis. Copyright 2002 S. Karger AG, Basel

4
UI - 11905191
AU - Gluvic Z; Rasic-Milutinovic Z
TI - [Pheochromocytoma associated with cholelithiasis]
SO - Med Pregl 2001 Jul-Aug;54(7-8):383-6
AD - Klinicko bolnicki centar Zemun/Beograd, 11080 Zemun, Vukova 9. gluvic@beotel.yu
OBJECTIVE: Pheochromocytoma is an adrenal or extra-adrenal tumor, which produces and secretes catecholamines. It is a rare cause of hypertension. Hypertension or hypertensive crises are most frequent clinical manifestations. Sometimes it can be associated with other diseases and conditions, such as cholelithiasis. CASE REPORT: We present a 37-year-old woman admitted to hospital with gastrointestinal complaints (right upper abdominal pain, nausea, vomiting) and hypertension with occasional hypertensive crises. Routine abdominal ultrasound revealed a gall-bladder stone, and enlargement of the right adrenal gland. The diagnosis of pheochromocytoma was confirmed by measurement of catecholamine levels in 24-hour urine collection and MIBG scan. After preoperative preparation, tumor extirpation was done. Histology confirmed the diagnosis of pheochromocytoma. Routine controls of catecholamine 24-hour urine levels showed no catecholamine excess, without hypertension and hypertensive crises as most frequent clinical manifestations. COMMENT: Physicians must consider pheochromocytomas in cases of drug resistant hypertension or hypertensive crises. Sometimes pheochromocytomas are associated with other diseases, such as gall-bladder stones, with mimicking and overlapping of clinical manifestations of pheochromocytomas with symptoms and signs of the associated disease.

5
UI - 11925888
AU - Kurita S; Tanaka H; Sanuki M; Kawamoto M; Yuge O
TI - [Severe hypotension after removal of pheochromocytoma in a pediatric patient]
SO - Masui 2002 Mar;51(3):255-60
AD - Department of Anesthesiology and Critical Care, Hiroshima University Faculty of Medicine, Hiroshima 734-8551.
An 8-year-old male patient with pheochromocytoma pretreated with prazocin, carteolol, and enarapril received sevoflurane general anesthesia with fentanyl. After removal of the tumor, blood pressure and urine volume decreased and ST segment in ECG was depressed. We administered dopamine and norepinephrine to increase blood pressure, but pulmonary edema became aggravated postoperatively. He was treated with noninvasive pressure support ventilation with face mask for 4 hours which was effective. His postoperative recovery was uneventful thereafter. We hypothesized that his hemodynamic deterioration was caused by sudden decrease in serum level of norepinephrine after the tumor removal, and the responsiveness to catecholamines was depressed by long exposure to norepinephrine. We conclude that we should use norepinephrine for anesthetic care even in pediatric patients as in adults.

6
UI - 11226993
AU - Ciftci AO; Tanyel FC; Senocak ME; Buyukpamukcu N
TI - Pheochromocytoma in children.
SO - J Pediatr Surg 2001 Mar;36(3):447-52
AD - Department of Pediatric Surgery, Hacettepe University Medical Faculty, Ankara, Turkey.
BACKGROUND/PURPOSE: Etiopathogenesis, management, and outcome of pediatric pheochromocytoma (PHEO) still is obscure because of limited number of cases. Therefore, a retrospective clinical study was performed to present an updated picture of the entire spectrum of pediatric PHEO based on the authors' 30 years' experience consisting of one of the largest noncollected series treated in a single medical center. METHODS: Records of patients treated for PHEO in the authors' unit from 1970 to 1999, inclusive, were reviewed retrospectively. Information recorded for each patient included age, sex, past medical and family history, clinical characteristics, diagnostic methods, treatment, pathologic findings, and outcome. RESULTS: Sixteen children with a mean age of 10.7 +/- 2.9 years consisting of 12 boys and 4 girls were treated for PHEO. Most of the tumors were right sided (n = 6) and bilateral (n = 6). Sporadic cases of PHEO accounted for 14 patients (88%), whereas 2 children had von Hippel-Lindau (VHL) disease and multiple endocrine neoplasia type 2b (MEN2b). Hypertension was the most common symptom followed by headache and sweating. The diagnosis of PHEO was made by laboratory and radiologic studies. Preoperative medical therapy was done in all patients. Laparotomy confirmed that 11 patients had localized, 4 patients had regional, and 1 patient had metastatic disease. The localized tumors were excised totally by bilateral (n = 4) and unilateral (n = 6) adrenalectomy. Surgical procedures performed for regional disease were total excision (n = 2), incisional biopsy (n = 1) and partial excision (n = 1). Incisional biopsy could be taken only from a patient with metastatic disease at presentation. Two patients with localized disease and 2 patients with regional disease had benign recurrences in right (n = 2) and left (n = 2) adrenal glands within 3 to 7 years after operation. Total excision of the recurrent tumors was done in all patients. Pathologic examination found apparently malignant features in 3 patients who presented with regional (n = 2) or metastatic (n = 1) disease and underwent incisional biopsy (n = 2) or partial excision (n = 1). Pathologic features suggestive of malignancy were noted in 4 patients presenting with regional (n = 2) and localized disease (n = 2). Apparently benign pathologic features were noted in the remaining 9 patients. There was not any operative mortality in our series. Adjuvant chemotherapy was commenced postoperatively in all patients with malignant and suggestive of malignant pathologic features. During the long-term follow-up for 16 years, 3 patients died (19%). One patient with VHL disease died of astrositoma 5 years after her recurrent PHEO was excised. Of the 3 patients with malignant disease, 2 patients in whom only incisional biopsies were done had distant metastases and died of disease within 2 years. Another patient with malignancy who had MEN2b was lost to follow-up. CONCLUSIONS: Early diagnosis and total excision are the most important aspects of accurate treatment for childhood PHEO. Pre- intra- and postoperative medical management is as important as the surgical procedure. Our surgical treatment policy is mainly minimizing the risk of recurrence while preserving adequately functioning adrenal medullar tissue. Incomplete excision and advanced-stage disease are the major determinants of poor outcome. None of the clinical, laboratory, or pathologic features are reliable predictors for recurrence and discrimination of malignancy. Because of the steadily increasing incidence of precancerous genetic syndromes related to adrenal glands and poor prognosis of advanced-stage PHEO, childhood cases of hypertensive disorders should receive a detailed and vigorous diagnostic evaluation and appropriate treatment as given to adults.

7
UI - 11733930
AU - Hoeffel JC; Hoeffel CC; Fornes P
TI - Re: Ciftci et al "Pheochromocytoma in Children" (J Pediatr Surg 36:447-452, 2001).
SO - J Pediatr Surg 2001 Dec;36(12):1874

8
UI - 11890217
AU - Bravo EL
TI - What is the best diagnostic approach when pheochromocytoma is suspected?
SO - Cleve Clin J Med 2002 Mar;69(3):257-8
AD - Department of Nephrology and Hypertension, The Cleveland Clinic, Cleveland Clinic Foundation, OH 44195, USA.

9
UI - 11936328
AU - Burt MG; Allen B; Conaglen JV
TI - False positive 131I-metaiodobenzylguanidine scan in the postoperative assessment of malignant phaeochromocytoma secondary to medullary hyperplasia.
SO - N Z Med J 2002 Jan 25;115(1146):18
AD - Nuclear Medicine Department, Waikato Clinical School and Waikato Hospital, University of Auckland, Hamilton.

10
UI - 11546931
AU - Stumvoll M; Fritsche A; Pickert A; Overkamp D
TI - Features of malignancy in a benign pheochromocytoma.
SO - Horm Res 1997;48(3):135-6
Pheochromocytomas are rare conditions with a prevalence of 1-2/100,000 in the general population and 1/1,000 hypertensive subjects [1]. 10% of pheochromocytomas are malignant and various attempts have been made to find useful prognostic indicators of malignancy. In general, increased plasma or urine dopamine concentrations or increased homovanillic acid excretion and lack of 131-methyliodo-benzylguanidine uptake have been associated with malignancy [2]. However, to date no specific metabolic, radiologic or histopathologic features of either benign or malignant pheochromocytomas allowing the safe diagnosis of one or the other have been identified. The diagnosis of malignant pheochromocytoma can be made only in the presence of local tissue invasion or distant metastases. We present a benign pheochromocytoma exhibiting several features suggestive of malignant disease.

11
UI - 7563486
AU - Neumann HP; Eng C; Mulligan LM; Glavac D; Zauner I; Ponder BA; Crossey
TI - PA; Maher ER; Brauch H Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II.
SO - JAMA 1995 Oct 11;274(14):1149-51
AD - Department of Nephrology and Hypertension, Albert-Ludwigs-University of Freiburg, Germany.
OBJECTIVE--Multiple endocrine neoplasia, type II (MEN-II) is an autosomal dominant disorder characterized by tumors of thyroid C cells and pheochromocytoma. Recently, germline mutations in the RET proto-oncogene have been identified in patients with MEN-II. The aims of this study were (1) to define the mutations in clinically diagnosed MEN-II families, (2) to compare the results of genetic and biochemical testing, and (3) to evaluate the impact of mutation analyses for the members of these families. DESIGN--Register-based survey study of clinically affected and unaffected members of MEN-II families. SETTING--Register of families from Germany and Spain with pheochromocytomas. Two research laboratories at Cambridge University in the United Kingdom. PATIENTS--We investigated consenting affected and unaffected members belonging to a series of 10 families who met the clinical criteria for MEN-II. MAIN OUTCOME MEASURES--(1) Presence or absence of germline mutation in the RET proto-oncogene in affected and unaffected members of the 10 families, and (2) in the absence of RET mutation in a given family, presence or absence of germline mutation in the von Hippel-Lindau (VHL) gene, which is the susceptibility gene involved in a closely related syndrome, von Hippel-Lindau disease. RESULTS--In eight of these families, RET mutations were identified. The specific mutations were detected in all affected members. The remaining two families without RET mutations were subsequently shown to have a mutation within the VHL gene. The VHL mutations were identified in both families and represent a previously undescribed base change. After identification of the mutation, premorbid genetic testing was performed in all MEN-II and VHL families, resulting in detection of asymptomatic carriers in the MEN-II families. Clinically, the two VHL families differed from the eight MEN-II families by the presence of a C-cell tumor in only one individual from each family and extra-adrenal pheochromocytoma in three of nine affected individuals in the two families combined. CONCLUSIONS--The diagnosis of MEN-II should be confirmed by molecular genetic analysis and the diagnosis of VHL syndrome should be considered for families with an absence of RET mutations and a preponderance of pheochromocytomas.

12
UI - 8592333
AU - Crossey PA; Eng C; Ginalska-Malinowska M; Lennard TW; Wheeler DC; Ponder
TI - BA; Maher ER Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.
SO - J Med Genet 1995 Nov;32(11):885-6
AD - Human Molecular Genetics Group, University of Cambridge, Department of Pathology, Addenbrooke's Hospital, UK.
Inherited predisposition to phaeochromocytoma is seen in multiple endocrine neoplasia type 2 syndromes, von Hippel-Lindau (VHL) disease, and neuro-fibromatosis type 1. In addition familial phaeochromocytoma alone has been reported. To investigate the genetic basis for familial phaeochromocytoma alone, we screened three affected kindreds for mutations in the RET proto-oncogene and the VHL tumour suppressor gene. We did not detect MEN 2 associated RET mutations in any family, but missense VHL gene mutations (V155L and R238W) were identified in two kindreds with no clinical evidence of VHL disease. Patients with familial, multiple, or early onset phaeochromocytoma should be investigated for germline VHL and RET gene mutations as the molecular diagnosis of multisystem familial cancer syndromes enables appropriate counselling and screening to be provided.

13
UI - 8768845
AU - Hofstra RM; Stelwagen T; Stulp RP; de Jong D; Hulsbeek M; Kamsteeg EJ;
TI - van den Berg A; Landsvater RM; Vermey A; Molenaar WM; Lips CJ; Buys CH Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases.
SO - J Clin Endocrinol Metab 1996 Aug;81(8):2881-4
AD - Department of Medical Genetics, University of Groningen, The Netherlands.
Sporadic medullary thyroid carcinoma (MTC) and pheochromocytoma (PC) have been reported to be associated with some specific RET gene mutations. To assess the role of RET in the development of MTC and PC, we screened 14 sporadic MTC, two MTC-derived cell lines, and 5 sporatic PC cases of RET mutations by a systematic analysis of the whole coding sequence, including all intron-exon junctions. In only 6 of the 14 sporadic MTC we were able to detect a RET mutation. Apart from the MET918-->Thr mutation in 5 of the MTC cases, we found a 3-bp deletion in exon 11, only present in the tumor, in another case. Analysis of 2 cell lines revealed the Met918-->Thr mutation in 1 and a Cys634-->Trp mutation in the other cell line. A possible somatic nature of these mutations could not be confirmed because in neither case was constitutive DNA available. We conclude that a large proportion of sporadic MTC must be due to mutations in an unidentified gene(s) other than RET. In none of the sporadic PC cases was a RET mutation found. As PC is a frequent complication in families suffering from von Hippel Lindau disease, for which mutations of the VHL gene are responsible, we also screened the 5 sporadic PC cases for VHL mutations. This revealed a Gly164-->Ser mutation in a single specimen. Thus, in PC, a large majority of tumors are due to mutations in an unidentified gene(s) other than RET and VHL.

15
UI - 9398721
AU - Brauch H; Hoeppner W; Jahnig H; Wohl T; Engelhardt D; Spelsberg F;
TI - Ritter MM Sporadic pheochromocytomas are rarely associated with germline mutations in the vhl tumor suppressor gene or the ret protooncogene.
SO - J Clin Endocrinol Metab 1997 Dec;82(12):4101-4
AD - Laboratory of Oncology, Womens Hospital Eppendorf, Germany.
Pheochromocytoma is a tumor that may occur sporadically or may be a manifestation of a hereditary disease, such as von Hippel-Lindau disease (VHL) and multiple endocrine neoplasia (MEN) type 2. As patients with VHL or MEN type 2 are at risk to develop multiple tumors, they must be distinguished from sporadic cases. We determined the incidence of VHL and MEN type 2 among 62 German patients diagnosed with pheochromocytoma without a history of a hereditary disease. Germline analyses of the vhl gene and exons 10, 11, and 13 of the ret protooncogene were performed by PCR, single strand conformation polymorphism, enzyme digestion, or sequencing. Two patients (3%) showed vhl mutations (95% confidence interval, 1-11%). One patient showed loss of the MspI restriction site at nucleotides 712/713. Another patient had a C/T change at an intronic site that was also detected in 2 of his offspring. No mutations were detected in the ret protooncogene (97.5% confidence interval, 0-6%). In Germany, most sporadic pheochromocytomas are not due to VHL or MEN type 2. Therefore, clinical work-up in patients with pheochromocytoma without signs of hereditary disease is not recommended. However, because the costs of genetic screening are relatively low, and each index case allows optimal care for family members, molecular testing might be cost-effective.

16
UI - 9663592
AU - van der Harst E; de Krijger RR; Dinjens WN; Weeks LE; Bonjer HJ;
TI - Bruining HA; Lamberts SW; Koper JW Germline mutations in the vhl gene in patients presenting with phaeochromocytomas.
SO - Int J Cancer 1998 Jul 29;77(3):337-40
AD - Department of Surgery, Erasmus University Rotterdam Medical School and Dijkzigt University Hospital, The Netherlands.
It has been shown that an appreciable percentage of patients presenting with primary, apparently sporadic phaeochromocytomas may in fact have von-Hippel-Lindau (VHL) disease. In order to investigate this, we retrospectively screened 68 patients, who had been operated on for phaeochromocytomas, for the presence of germline mutations in the vhl gene. DNA was isolated from peripheral-blood leukocytes and used to screen the entire coding sequence and the intron-exon boundaries of the vhl gene for mutations, using a PCR-based SSCP strategy. When an abnormal pattern was found in the SSCP analysis, sequence analysis was carried out. We found SSC variants in the vhl gene in 8 of the 68 patients. Of 6 patients, 2 turned out to be related (an uncle and his nephew), and they carried the same mis-sense mutation: R64P. In 4 other patients, mis-sense mutations, P25L, L63P, G144Q and I147T, were also identified. None of these mutations has been described, and 3 of them (P25L, L63P and R64P) are located closer to the N terminus of the vhl protein than any reported vhl mutation. In the remaining 2 cases, the mutations were localized not in the coding sequence but in the intronic sequence (but not within splice-sites), adjacent to the exon, so they were probably not related to the disease. Our results show that a relatively high proportion (6/68, or 8.8%), though not as high as the 20% reported earlier, of patients with apparently sporadic phaeochromocytomas may carry germline mutations in the vhl gene.

17
UI - 10627136
AU - Martin R; Hockey A; Walpole I; Goldblatt J
TI - Variable penetrance of familial pheochromocytoma associated with the von Hipple Lindau gene mutation, S68W. Mutations in brief no. 150. Online.
SO - Hum Mutat 1998;12(1):71
AD - Genetic Services of Western Australia, Princess Margaret Hospital, GPO Box D184, Perth 6000, Australia.
Van Hippel-Lindau disease (VHL) is an autosomal dominantly inherited disorder, characterised by the development of clear cell renal carcinomas, CNS hemangioblastomas, retinal angiomas, pancreatic tumors, pheochromocytomas and hepatic cysts. Recently a number of families with dominant familial pheochromocytoma as the only clinical manifestation have been reported to carry mutations in the HVL gene. We describe a family in which a novel VHL S68W mutation was segregating and carrier individuals manifested with variable penetrance of isolated pheochromocytomas. Investigation of this kindred confirmed that a mutation in the VHL gene could produce isolated pheochromocytomas as the only clinical feature and was variably penetrant.

18
UI - 10354869
AU - Hes FJ; Feldberg MA
TI - Von Hippel-Lindau disease: strategies in early detection (renal-, adrenal-, pancreatic masses).
SO - Eur Radiol 1999;9(4):598-610
AD - Department of Internal Medicine, University Hospital Utrecht, The Netherlands.
Von Hippel-Lindau disease (VHL) is a hereditary syndrome characterized by a predisposition for bilateral and multicentric retinal angiomas, hemangioblastomas in the central nervous system (CNS), renal cell carcinomas, pheochromocytomas, islet cell tumors of the pancreas, and endolymphatic sac tumors, as well as cysts in the kidney, pancreas, and epididymis. This review focuses on developments in imaging of renal, adrenal, and pancreatic masses in VHL. Radiology still has a central place in managing of VHL. Radiologists should therefore be aware of the importances of MRI, CT, and US compared with other radiodiagnostic tools for these three organs. Since a conservative approach to the treatment of VHL lesions is now becoming more widely accepted, ongoing follow-up by careful radiological screening with US, and especially with MRI, will play a central role in managing the disease. We also give an overview of recent advances in the molecular biology of VHL, because the combination of imaging with (presymptomatic) DNA analysis has made early detection and screening of lesions possible and led to a reduction in morbidity and mortality.

19
UI - 10417977
AU - Ferragut J; Caimari M; Rituerto B; Gomez-Rivas B; Herrera M; Alonso F
TI - Pheochromocytoma and clear-cell renal carcinoma in a child with von Hippel-Lindau disease: a patient report.
SO - J Pediatr Endocrinol Metab 1999 Jul-Aug;12(4):579-82
AD - Department of Pediatrics, Hospital Son Dureta, Palma de Mallorca, Spain.
A 6 year-old boy with von Hippel-Lindau (VHL) disease presented with hypertension due to bilateral pheochromocytomas. At age 13 he developed a renal carcinoma and bilateral paragangliomas. His mother had retinal angiomas, bilateral pheochromocytomas and a cerebellar hemangioblastoma. This unusual presentation illustrates the complexity and difficulties associated with the management of VHL disease.

20
UI - 10487330
AU - Komiyama Y; Nishimura N; Munakata M; Okuda K; Nishino N; Kosaka C;
TI - Masuda M; Mori T; Matsuda T; Takahashi H Increases in plasma ouabainlike immunoreactivity during surgical extirpation of pheochromocytoma.
SO - Hypertens Res 1999 Jul;22(2):135-9
AD - Department of Clinical Sciences and Laboratory Medicine, Kansai Medical University, Moriguchi, Japan.
The ouabainlike factor (OLF) is thought to be an important modulator of salt and water metabolism. Plasma OLF could be derived from the central nervous system and/or the adrenal gland. Since the adrenal medulla is of neural origin, the cytology of pheochromocytoma of adrenomedullary origin resembles that of neuronal cells. Ouabainlike immunoreactivity (OLI) is, in fact, present in the adrenal medulla as shown by immunohistochemistry. The plasma levels of catecholamines and OLI were significantly elevated during surgical extirpation of pheochromocytoma in this case. To clarify the origin of circulating OLI in a patient with pheochromocytoma, the relationship between plasma OLI and catecholamines during adrenalectomy was investigated. Plasma catecholamine levels exceeded the normal reference interval, and plasma OLI was positively correlated with the patient's plasma level of norepinephrine. The peak level during operation was about 10 times higher than the baseline level. Both levels reached a maximum when the tumor was mechanically pressed, and then gradually decreased thereafter. The level of OLI in the tumor was higher than that of the normal adrenal cortex. When OLI in the tumor was characterized by reversed-phase high-performance liquid chromatography, the retention time of OLI corresponded with that of authentic ouabain. These results suggest that the circulating OLI in this patients was derived mainly from the pheochromocytoma of adrenomedullary origin.

21
UI - 10955664
AU - Piermarocchi S; Lo Giudice G; Pilotto E; Bertoja E; Scaroni C; Martella
TI - M; Opocher G; Murgia A Retinal abnormalities associated with a mutation of the nucleotide 683 in von Hippel-Lindau disease.
SO - Graefes Arch Clin Exp Ophthalmol 2000 Jul;238(7):615-20
AD - Institute of Ophthalmology, University of Padua, Italy. ocufag@ux1.unipd.it
BACKGROUND: von Hippel-Lindau disease (VHL) is a hereditary cancer syndrome in which affected individuals are at risk of developing tumors in multiple organs, including eyes, cerebellum, spinal cord, kidneys, inner ear, adrenal glands and pancreas. METHODS: We performed a fundus examination and fluorescein and indocyanine green (ICG) angiography in both eyes of a young woman affected by VHL with bilateral pheochromocytoma, retinal angioma, retinal microaneurysms and unusual alterations of the deep retinal layers. A molecular analysis of the VHL gene was carried out. RESULTS: Ophthalmoscopy disclosed in her right eye a small retinal hemangioma, some microaneurysms in both eyes at the posterior pole and multiple, small, whitish, dome-shaped lesions scattered in the retinal pigment epithelium (RPE) of the posterior retina. Fluorescein angiograms revealed in the early phase multiple hyperfluorescent spots that showed progressive discoloration in the late phase of angiography. Some of these spots were ophthalmoscopically undetectable. The late phase of ICG angiography showed some small hyperfluorescent points located at the level of the RPE, and some of them corresponded to the hyperfluorescent spots seen on fluorescein angiography. The molecular analysis revealed the presence of a "missense" mutation of the VHL gene at nucleotide 683. CONCLUSIONS: Alterations in the RPE have never been observed in the VHL syndrome. We describe an unusual case of VHL with a capillary hemangioma associated to diffuse alterations with the RPE of the posterior retina. The possibility exists that these lesions form part of the eye modifications in VHL.

22
UI - 11308996
AU - Koch CA; Vortmeyer AO; Huang SC; Alesci S; Zhuang Z; Pacak K
TI - Genetic aspects of pheochromocytoma.
SO - Endocr Regul 2001 Mar;35(1):43-52
AD - National Institutes of Health, SNB, Bethesda, Maryland 20892, U.S.A. Kochc@exchange.nih.gov
We here review the literature on genetics related to pheochromocytoma. About 10 percent of these neuroendocrine tumors are hereditary and are most often associated with multiple endocrine neoplasia type 2 (MEN 2), von Hippel-Lindau disease, and neurofibromatosis type 1 (NF 1). Hereditary tumor syndromes such as the aforementioned ones, are ideal to study the molecular pathogenesis of tumorigenesis as opposed to sporadic tumors in which genetic alterations often merely represent epigenetic tumor progression phenomena. Recent advances in molecular genetics, especially of RET, VHL, NF1, and SDHD, helped better understand the pathogenesis of pheochromocytoma. In this paper, we not only summarize key points of genetic discoveries related to pheochromocytoma, but also report in table format all known RET germline mutations related to pheochromocytoma.

23
UI - 11510758
AU - Tomita N; Moriguchi A; Yamasaki K; Taniyama Y; Kotani N; Hashiya N;
TI - Yoshida M; Yao M; Higaki J; Ogihara T A family with von Hippel-Lindau disease revealed by pheochromocytoma.
SO - Hypertens Res 2001 Jul;24(4):445-50
AD - Department of Geriatric Medicine, Osaka University Medical School, Suita, Japan. tomita@hp-gm.med.osaka-u.ac.jp
Von Hippel-Lindau (VHL) disease is an inherited neoplastic disease characterized by a predisposition to develop retinal angiomas, central nervous system hemangioblastomas, renal cell carcinomas, pancreatic cysts and pheochromocytomas. Recently, we encountered three members of the same family who each had both VHL disease and pheochromocytoma. As in all three patients we suspected pheochromocytoma, the diagnosis of VHL disease should be considered. The possible presence of VHL disease was initially investigated in all three patients based on the presence of pheochromocytoma. A mutational analysis of the VHL gene revealed the presence of a missense mutation, consisting of a G to A transversion, at nucleotide 713 in all three patients. This germline point mutation in the VHL gene is often detected in type 2 VHL disease with pheochromocytoma. Genetic analysis seems to be useful for early detection of VHL disease, even when the formal criteria for diagnosis of this disease are lacking.

24
UI - 11821960
AU - Koch CA; Huang SC; Zhuang Z; Stolle C; Azumi N; Chrousos GP; Vortmeyer
TI - AO; Pacak K Somatic VHL gene deletion and point mutation in MEN 2A-associated pheochromocytoma.
SO - Oncogene 2002 Jan 17;21(3):479-82
AD - Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Disease (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, MD 20892, USA. kochc@exchange.nih.gov
Multiple endocrine neoplasia type 2 (MEN 2) is an inherited cancer syndrome that includes pheochromocytoma. Germline mutations in RET are responsible for MEN 2 but the precise pathogenetic mechanisms of tumorigenesis are unknown. We have recently identified possible mechanisms of tumor formation in patients with MEN 2A-related pheochromocytoma. Two of nine tumors investigated, however, did not reveal either of these mechanisms. In the present study, we therefore searched for other possible mechanisms underlying the pathogenesis of MEN 2A-related pheochromocytoma. Hereditary pheochromocytoma also occurs in patients with von Hippel-Lindau (VHL) disease, a syndrome consisting of tumors caused by inactivation of the VHL tumor suppressor gene. A subset of sporadic pheochromocytomas have somatic mutations in RET or VHL, suggesting that both genes contribute to pheochromocytoma pathogenesis in a subset of tumors. It is unknown, however, whether VHL gene alterations would be associated with tumorigenesis in hereditary, MEN 2-related pheochromocytoma. We therefore investigated four pheochromocytomas from patients with MEN 2A and RET germline mutations for the presence of allelic deletion and/or somatic mutation of the VHL gene. LOH analysis using the polymorphic markers D3S1038 and D3S1110 that map to the VHL gene locus 3p25/26, revealed evidence for somatic VHL gene deletion in all four MEN 2A-related pheochromocytomas. Mutation analysis of the VHL gene showed frameshift mutations in two tumors and a splice acceptor mutation in one tumor. The remaining tumor did show LOH but not mutation of the VHL gene. These results suggest that somatic genetic alterations of the VHL gene may play a role in the tumorigenesis of some MEN 2A-related pheochromocytomas.

25
UI - 11903845
AU - Bonacruz Kazzi G
TI - Asymptomatic bladder phaeochromocytoma in a 7-year-old boy.
SO - J Paediatr Child Health 2001 Dec;37(6):600-2
AD - Department of Nephrology, The Children's Hospital at Westmead, New South Wales, Australia. gildab@chw.edu.au
Bladder phaeochromocytoma in a child is very rare. In the case presented here, it was an incidental finding in the youngest child reported in the literature. The phaeochromocytoma was located at the right ureterovesical junction causing obstruction, resulting in hydronephrosis. The dilemma in the diagnosis and management of this challenging condition is presented. The absence of typical symptoms of phaeochromocytoma is emphasized.

26
UI - 11852305
AU - Buhl T; Mortensen J; Kjaer A
TI - I-123 MIBG imaging and intraoperative localization of metastatic pheochromocytoma: a case report.
SO - Clin Nucl Med 2002 Mar;27(3):183-5
AD - Department of Clinical Physiology and Nuclear Medicine, Center for Medical Imaging, Informatics and Engineering in Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. t.buhl@rh.dk
The authors describe the diagnostic use of I-123 MIBG scintigraphy in a 61-year-old man who was thought to have a recurrence 25 years after a left adrenalectomy for a pheochromocytoma. Preoperative I-123 MIBG scintigraphy was performed twice along with intraoperative gamma probe localization of the lesions. The preoperative MIBG scintigraphy revealed three pathologic processes in the upper left abdomen, whereas computed tomographic scanning identified only one site of involvement. All three metastatic lesions were removed successfully with the aid of a gamma probe. Preoperative I-123 MIBG scintigraphy, combined with intraoperative gamma probe identification of I-123 MIBG foci, is feasible and a valuable tool to detect malignant masses possibly overlooked by other imaging techniques.

27
UI - 11925962
AU - Sugi Y; Muro A; Yoshida T; Takajyo Y; Matsuoka H; Ohuchida M; Kato S;
TI - Oka N; Honma T; Ikeda H; Imaizumi T [Pheochromocytoma presenting as acute heart failure]
SO - Nippon Naika Gakkai Zasshi 2002 Jan 10;91(1):467-9
AD - Third Department of Internal Medicine, Kurume University School of Medicine, Kurume.

28
UI - 11888845
AU - Koch CA; Vortmeyer AO; Diallo R; Poremba C; Giordano TJ; Sanders D;
TI - Bornstein SR; Chrousos GP; Pacak K Survivin: a novel neuroendocrine marker for pheochromocytoma.
SO - Eur J Endocrinol 2002 Mar;146(3):381-8
AD - National Institutes of Health (NIH), National Institute of Child Health and Human Development, Bethesda, Maryland 20892, USA. Kochc@exchange.nih.gov
OBJECTIVE: To study survivin expression in human adrenal medulla and in benign and malignant pheochromocytoma tissue as a tool to predict tumor metastatic potential and prognosis. DESIGN: Blinded study to assess the role of the anti-survivin antibody in chromaffin cells. METHODS: We performed immunohistochemistry with a purified rabbit-polyclonal anti-survivin antibody on 39 formalin-fixed and paraffin-embedded pheochromocytoma/paraganglioma specimens, and on 10 normal adrenal medulla samples from patients unaffected by a chromaffin cell tumor. Fourteen samples were from 14 patients with benign pheochromocytoma (<8 year follow-up, mean 5.2 years), 18 specimens were from 12 patients with malignant pheochromocytoma (<13 year follow-up, mean 6.3 years), 5 samples were from 2 patients with malignant paraganglioma (<6 year follow-up, mean 4 years), and 2 specimens from 2 patients with benign paraganglioma (<7 year follow-up, mean 5.5 years). Malignancy was defined by metastases in non-chromaffin tissues. Staining intensity with the anti-survivin antibody was scored from 0 (none) to 3+ (heavy). Tissues from human kidney, breast, and melanoma served as controls. RESULTS: All pheochromocytoma/paraganglioma specimens stained either 2+ or 3+. By analysis of variance (ANOVA), there was no statistically significant difference between the staining intensity of benign and malignant samples. All normal adrenal medulla specimens stained positively with anti-survivin but to a lesser degree than the chromaffin cell tumors (P<0.01). CONCLUSIONS: Based on these findings, we conclude that (i) survivin may represent a novel neuroendocrine marker for chromaffin cell tumors, and (ii) survivin does not appear to reliably distinguish benign from malignant pheochromocytomas/paragangliomas and thus does not identify patients at risk of recurrent disease.

29
UI - 11933640
AU - Brunaud L; Cormier L; Ayav A; Marchal F; Olivier P; Bresler L; Boissel P
TI - [Usefulness of intraoperative 123I-MIBG during reoperation for malignant pheochromocytoma: a case report]
SO - Ann Chir 2002 Mar;127(3):225-7
AD - Service de chirurgie viscerale et endocrinienne, CHU Nancy-Brabois, 11, allee du Morvan, 54511 Vandoeuvre-les-Nancy, France. lbrunaud@planete.net
Intraoperative MIBG radionuclear scanning has been used to improve pathological foci localization and surgical accuracy in patients with neural crest derived tumors. This intraoperative detection has been reported in less than 10 patients during reoperation for pheochromocytoma. We report a case of 123I-MIBG intraoperative detection allowing to improve surgical resection quality during reoperation for pheochromocytoma. The use of intraoperative MIBG radionuclear scanning is helpful when reoperation for pheochromocytoma is performed.

30
UI - 11810017
AU - Inatomi Y; Yonehara T; Fujioka S; Uchino M
TI - alpha-Blocker is effective in the improvement of cerebral angiopathy in a patient with pheochromocytoma.
SO - Cerebrovasc Dis 2002;13(1):76-7

31
UI - 11862137
AU - Dagartzikas MI; Sprague K; Carter G; Tobias JD
TI - Cerebrovascular event, dilated cardiomyopathy, and pheochromocytoma.
SO - Pediatr Emerg Care 2002 Feb;18(1):33-5
AD - Department of Child Health, The University of Missouri, Columbia, Missouri 65212, USA.
Cerebral infarction in children may be the result of various disease processes, including emboli from intracardiac sources, paradoxical emboli from the venous system, sickle cell disease, cyanotic heart disease, vasculitis affecting the carotid or cerebral vascular system, vascular anomalies, and prothrombotic states. We present a previously healthy adolescent who presented with the acute onset of hemiparesis. Work-up revealed a dilated cardiomyopathy with a left ventricular mural thrombus as the etiology of his cerebrovascular event. Although dilated cardiomyopathy (DCM) may predispose to the development of a mural thrombus and subsequent embolic events, there are no previous reports in pediatric-aged patients of the development of an embolic event as the presenting manifestation of DCM. Further investigation of the etiology of the DCM led to the diagnosis of a pheochromocytoma. Congestive heart failure and DCM as the presenting sign of pheochromocytoma has likewise not been reported in a pediatric-aged patient. We review this unlikely sequence of events, the diagnostic evaluation of such patients, and treatment options.

32
UI - 11914677
AU - Verma N; Singh-Wadhwa S; Arvela OM; Elison BS
TI - A large pheochromocytoma seen on dynamic bone scintigraphy.
SO - Clin Nucl Med 2002 Apr;27(4):301-2
AD - Department of Nuclear Medicine, Wollongong Hospital, Crown Street, Wollongong, New South Wales 2500, Australia.

33
UI - 11847476
AU - Blasi C; D'Amore F; Delle Fave G; Massa R; Reale MG; Caliumi C; Letizia
TI - C A case of pheochromocytoma with renal artery stenosis and post-surgical watery diarrhea.
SO - Horm Res 2001;56(3-4):130-3
AD - Second Division of Internal Medicine, Hospital Sandro Pertini, Rome, Italy.
A 35-year-old woman was admitted to our hospital with the following complaints, headache, sweating, anxiety, dizziness, nausea, vomiting and severe hypertension. The technical images (abdominal CT, scintigraphic octreotide scan and renal arteriography) revealed the presence of a left adrenal pheochromocytoma and stenosis of the renal artery. Ten days following adrenalectomy, watery diarrhea appeared. The long-acting somatostatin analogue octreotide (LAR, 30 mg/month, i.m.), was started, and after 2 weeks diarrhea decreased and gradually disappeared. In conclusion, we were confronted with an unusual case of pheochromocytoma associated with renal artery stenosis and the appearance of watery diarrhea some days after surgical treatment. Treatment with octreotide brought about the remission of diarrhea in this patient. Copyright 2002 S. Karger AG, Basel

34
UI - 11922028
AU - Adudu R
TI - Problems with the management of a case of phaeochromocytoma: case report.
SO - Niger Postgrad Med J 2001 Dec;8(4):196-8
AD - Department of Anaesthesiology, College of Medical Sciences, University of Benin, Edo State.
A 29 year old woman was referred from Jos University Teaching Hospital (J. U.TH.) with a provisional diagnosis of phaeochromocytoma. She had presented with recurrent headaches, palpitations, excessive sweating, dizziness, syncope and hypertension. She was treated with phenoxybenzamine and propranolol for six weeks before the drugs were discontinued. This followed conflicting results of investigations done. The return of persistent and severe symptoms led to recommencement of the drugs and surgical intervention after four weeks. A general anaesthetic technique was used. The surgery was complicated by intraoperative hypertension and hypotension. Phentolamine was used to manage intraoperative hypertension. Postoperative complications included shivering, fatigue and paralytic ileus. The report emphasizes the need to take clinical findings into consideration in interpreting results of investigations. It also illustrates the anaesthetic experience for excision of a phaeochromocytoma.

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