Table of Contents
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.
14
UI - 9104939
AU - Vargas MP; Zhuang Z; Wang C; Vortmeyer A; Linehan WM; Merino MJ
TI -
Loss of heterozygosity on the short arm of chromosomes 1 and 3 in
sporadic pheochromocytoma and extra-adrenal paraganglioma.
SO - Hum Pathol 1997 Apr;28(4):411-5
AD - Laboratory of Pathology and Surgery Branch, National Cancer Institute,
National Institutes of Health, Bethesda, MD 20892, USA.
Pheochromocytomas and extra-adrenal paragangliomas are tumors of the
paraganglia with similar histological characteristics. We examined 12
sporadic pheochromocytomas and 5 extra-adrenal paragangliomas for loss
of heterozygosity (LOH) in chromosomes 1p and 3p using a microdissection
technique. Chromosomes 1p34-36, 3p21 and the von Hippel-Lindau (VHL)
gene locus (3p25) were analyzed. LOH of a selected region on chromosome
1p was detected in 5 of 11 (45%) informative pheochromocytoma cases and
in 0 of 5 (0%) informative extra-adrenal paraganglioma cases. LOH of the
chromosome 3p25 VHL gene locus was detected in 5 of 9 (45%) informative
pheochromocytoma cases and in 0 of 3 (0%) informative extra-adrenal
paraganglioma cases. LOH of 3p21 was detected in 2 of 4 (50%)
informative extra-adrenal paraganglioma cases. The allelic deletions in
chromosomes 1p and 3p appear to be separate events. In conclusion,
significant deletions were found at 1p34-36 and 3p25 in sporadic
pheochromocytomas but not in extra-adrenal paragangliomas. These
findings suggest (1) that multiple genetic factors may be involved in
pheochromocytoma tumorigenesis, and (2) extra-adrenal paragangliomas may
have a different genetic mechanism of tumorigenesis compared with
pheochromocytomas.
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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