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Ultima Vez Modificado: 1 de febrero del 2002
UI - 11794989
AU - Gallet B; Quintard H; Fruchaud J; Hiltgen M
TI - [Dynamic left ventricular obstruction associated with a pheochromocytoma reversible after tumor ablation]
SO - Arch Mal Coeur Vaiss 2001 Nov;94(11):1195-8
AD - Service de cardiologie, centre hospitalier Victor-Dupouy, 69, rue du Lieutenant-Colonel-Prudhon, 95107 Argenteuil.
The association of dynamic left ventricular outflow tract obstruction and pheochromocytoma is rare with only about fifteen previously reported cases in the literature. The association may be the result of chronic increased catecholamine secretion which induces intra-ventricular obstruction in a hypertrophied ventricle due to hypertension. The authors report a new case in which the intraventricular gradient on Doppler echocardiography was particularly high at 120 mmHg. The gradient totally regressed after removal of the pheochromocytoma. The finding of a systolic murmur in a patient with pheochromocytoma should lead to the prescription of Doppler echocardiography and diagnosis of left ventricular tract obstruction must lead to the association of betablocker and alphablocker therapy before surgery. The removal of the pheochromocytoma is usually followed by the complete regression of left intraventricular obstruction, as in this case.
UI - 11803636
AU - Chapuis Y; Dousset B; Bonnichon P; Massault PP; Hoeffel C; Louvel A
TI - [Which adrenal incidentalomas are to be operated?]
SO - Ann Chir 2001 Dec;126(10):985-91
AD - Service de chirurgie generale et digestive, hopital Cochin, 27, rue du Faubourg-Saint-Jacques, 75674 Paris, France. email@example.com
AIM OF THE STUDY: The goal of this retrospective study was to recognize the incidence of adrenal tumors called incidentalomas, that are in fact symptomatic or hormone secreting tumors, to assess if the diagnostic criteria proposed in the literature are reliable for adrenal tumors found incidentally. PATIENTS AND METHOD: The records concerned 147 mass measuring 3 cm in diameter and larger on CT scan. Clinical and laboratory findings as well as hormone levels and imaging examinations (CT Scan, IRM, scintigraphy) were correlated with operative findings and results of histologic examinations. One hundred and three patients were operated by a traditional approach and forty four by videoendoscopic techniques. RESULTS: In 41 patients (28%), the tumors had to be classified as false incidentalomas (group 1) postoperatively. In 106 patients (72%), the nature of tumor was non definite. In this group 2, there were ten malignant tumors, two pheochromocytomas and 94 benign lesions. Age of patient, size of tumor, increase in size over time and radiological appearance represent criteria that are not reliable to separate malignant from benign tumors. CONCLUSIONS: Tumors of indeterminated and non specific nature only should be classified as incidentalomas. Imaging techniques as well as other criteria of malignancy cannot be relied upon to separate benign from malignant tumors. The risk even small of cancer or pheochromocytoma leads us to recommend excision of tumors > or = 3 cm in radiological diameter. The videoendoscopic approach is a good alternative to open operation in centers with this special expertise.
UI - 11809186
AU - Ma RC; Chan WB; Chow CC; Cockram CS
TI - A woman with vomiting and hyperamylasaemia.
SO - Lancet 2002 Jan 5;359(9300):42
AD - Department of Medicine and Therapeutics, Prince of Wales Hospital, Shatin, New Territories, Hong Kong. firstname.lastname@example.org
UI - 11795252
AU - Smith SL; Slappy AL; Fox TP; Scolapio JS
TI - Pheochromocytoma producing vasoactive intestinal peptide.
SO - Mayo Clin Proc 2002 Jan;77(1):97-100
AD - Section of General Surgery, Mayo Clinic, Jacksonville, Fla 32224, USA. email@example.com
The syndrome of watery diarrhea associated with hypokalemia and achlorhydria was originally described in 1958. Subsequently, this syndrome was shown to be caused by a neuroendocrine tumor secreting vasoactive intestinal peptide (VIP), and such tumors are almost always pancreatic in origin. We describe the case of a 78-year-old woman with gradual onset of hypokalemia, watery diarrhea, and weight loss. After a left adrenal mass was discovered, the patient chose medical therapy over surgical intervention. Initially her condition responded, then gradually became refractory to medical therapy. She had elevated levels of VIP, pancreatic polypeptide, dopamine, and vanillylmandelic acid. Subsequently, the patient underwent surgical excision of the mass that was found to be a VIP-producing pheochromocytoma. After surgery her diarrhea subsided, and her electrolytes and affected neuroendocrine hormone levels normalized.
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. firstname.lastname@example.org
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.
UI - 11834382
AU - Hsu TH; Gill IS
TI - Bilateral laparoscopic adrenalectomy: retroperitoneal and transperitoneal approaches.
SO - Urology 2002 Feb;59(2):184-9
AD - Section of Laparoscopic and Minimally Invasive Surgery, Urological Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA.
OBJECTIVES: To report our experience with bilateral laparoscopic adrenalectomy using either the retroperitoneal or the transperitoneal patients with bilateral adrenal disease (Cushing syndrome in 4, pheochromocytoma in 1, and solitary adrenal metastases in 1) underwent bilateral laparoscopic adrenalectomy by way of the retroperitoneal or transperitoneal approach. Bilateral adrenalectomy was performed either synchronously (4 patients) or in a staged manner (2 patients). RESULTS: All laparoscopic procedures were performed successfully. For the bilateral synchronous cases (n = 4) and metachronous cases (n = 4), the median surgical time was 278 and 195 minutes, blood loss was 175 and 125 mL, resumption of oral intake and ambulation required less than 1 day for both groups, and postoperative narcotic requirement comprised 14 and 10 mg morphine sulfate equivalent, respectively. For the synchronous and metachronous cases, the hospital stay was 1.5 and less than 1 day and convalescence was 3 and 2.5 weeks, respectively. An intraoperative surgical complication (adrenal vein bleeding) occurred in 1 case, but did not require open conversion. No postoperative complications or rehospitalization occurred. The retroperitoneal approach was used in 3 of the 4 bilateral synchronous and 3 of the 4 bilateral metachronous cases. In both synchronous and metachronous cases, the actual surgical time, blood loss, time to oral intake and ambulation, postoperative analgesia use, hospital stay, and convalescence of the transperitoneal approach were well within the range of those of the retroperitoneal approach. CONCLUSIONS: Retroperitoneal and transperitoneal bilateral laparoscopic adrenalectomy is feasible, safe, and results in minimal postoperative morbidity.
UI - 11786741
AU - Boersma HH; Wensing JW; Kho TL; De Brauw LM; Liem IH; Van Kroonenburgh
TI - MJ Compensatory uptake of I-123 MIBG in the contralateral adrenal gland after removal of a pheochromocytoma.
SO - Clin Nucl Med 2002 Feb;27(2):113-6
AD - Department of Nuclear Medicine, University Hospital Maastricht, Maastricht, The Netherlands.
The identification of recurrent or residual tumor tissue is sometimes complicated. The authors describe a 53-year-old woman in whom I-123 metaiodobenzylguanidine (MIBG) scintigraphy revealed a pheochromocytoma in the right adrenal gland. After the tumor was removed, the patient's catecholamine levels normalized. At the 3-month follow-up examination, I-123 MIBG scintigraphy did not reveal uptake in the right adrenal region but rather showed uptake in the left adrenal region. The patient's blood pressure remained in the normal range. A third scintigram, obtained 1 year after tumor resection, no longer detected I-123 MIBG accumulation in the left adrenal gland. These findings suggest that compensatory hyperplasia of the left adrenal gland led to enhanced uptake of I-123 MIBG. They also highlight the need for careful follow-up of such patients to distinguish between physiologic and pathologic processes.
UI - 11677427
AU - Gentile S; Rainero I; Savi L; Rivoiro C; Pinessi L
TI - Brain metastasis from pheochromocytoma in a patient with multiple endocrine neoplasia type 2A.
SO - Panminerva Med 2001 Dec;43(4):305-6
AD - Department of Neurology III, Headache Center Department of Neuroscience, University of Turin, Turin, Italy. email@example.com
Neurological involvement in multiple endocrine neoplasia (MEN) syndrome is uncommon. Notalgia paresthetica (pruritus localized in an area between D2 and D6 dermatomes) is the neurological symptom more frequently described in patients with MEN 2A. The authors report the unusual case of a MEN 2A patient with a brain metastasis from a pheochromocytoma.
UI - 11404820
AU - Astuti D; Latif F; Dallol A; Dahia PL; Douglas F; George E; Skoldberg F;
TI - Husebye ES; Eng C; Maher ER Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.
SO - Am J Hum Genet 2001 Jul;69(1):49-54
AD - Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Birmingham B15 2TT, United Kingdom.
The pheochromocytomas are an important cause of secondary hypertension. Although pheochromocytoma susceptibility may be associated with germline mutations in the tumor-suppressor genes VHL and NF1 and in the proto-oncogene RET, the genetic basis for most cases of nonsyndromic familial pheochromocytoma is unknown. Recently, pheochromocytoma susceptibility has been associated with germline SDHD mutations. Germline SDHD mutations were originally described in hereditary paraganglioma, a dominantly inherited disorder characterized by vascular tumors in the head and the neck, most frequently at the carotid bifurcation. The gene products of two components of succinate dehydrogenase, SDHC and SDHD, anchor the gene products of two other components, SDHA and SDHB, which form the catalytic core, to the inner-mitochondrial membrane. Although mutations in SDHC and in SDHD may cause hereditary paraganglioma, germline SDHA mutations are associated with juvenile encephalopathy, and the phenotypic consequences of SDHB mutations have not been defined. To investigate the genetic causes of pheochromocytoma, we analyzed SDHB and SDHC, in familial and in sporadic cases. Inactivating SDHB mutations were detected in two of the five kindreds with familial pheochromocytoma, two of the three kindreds with pheochromocytoma and paraganglioma susceptibility, and 1 of the 24 cases of sporadic pheochromocytoma. These findings extend the link between mitochondrial dysfunction and tumorigenesis and suggest that germline SDHB mutations are an important cause of pheochromocytoma susceptibility.
UI - 11850829
AU - Lui WO; Chen J; Glasker S; Bender BU; Madura C; Khoo SK; Kort E; Larsson
TI - C; Neumann HP; Teh BT Selective loss of chromosome 11 in pheochromocytomas associated with the VHL syndrome.
SO - Oncogene 2002 Feb 7;21(7):1117-22
AD - Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
By using comparative genomic hybridization (CGH), we characterized the genetic profiles of 36 VHL-related pheochromocytomas. We then compared the results with those of sporadic and MEN 2-related pheochromocytomas. In 36 VHL-related tumors, loss of chromosome 3 and chromosome 11 were found in 34 tumors (94%) and 31 tumors (86%), respectively. There was significant concordance of deletions in chromosomes 3 and 11 (Kappa=0.64, P=0.0095), suggesting that they are involved in two different but necessary and complementary genetic pathways. The loss of chromosome 11 appeared to be specific for VHL-related pheochromocytoma as it was not present in any of the 10 VHL-related CNS hemangioblastomas studied and was significantly less common when compared with (a) sporadic pheochromocytomas from previously published results (13%; P=<0.0001), and (b) MEN 2-related pheochromocytomas from this and previously published studies (30%; P=0.0012). In summary, this is the first report of a novel consistent genetic alteration that is selected and specific for VHL-related pheochromocytoma, besides the two hits of the VHL gene.
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