Chromogranin A assay and (131)I-MIBG scintigraphy for diagnosis and follow-up of pheochromocytoma.
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We assessed the performance of a new serum chromogranin A (CgA) assay in combination with the results of (131)I-metaiodobenzylguanidine (MIBG) scintigraphy for diagnosis and follow-up in 89 patients with clinical findings suggestive of pheochromocytoma. METHODS: The study population consisted of 41 patients with proven pheochromocytoma and 48 patients with refuted pheochromocytoma. Eighty-seven scintigraphy examinations were performed, 52 in patients with proven pheochromocytoma (39 before surgery and 13 after surgery) and 35 in patients with refuted pheochromocytoma. RESULTS: The sensitivity of the CgA level was 90.2%, and the specificity was 99.0% and 92.3% in the control and refuted pheochromocytoma groups, respectively. A significant relationship was seen between serum levels of CgA and tumor mass (r = 0.70; P < 10(-5)). The postoperative CgA level was an early and accurate predictor of curative surgery or relapse. The concordance between CgA levels and scintigraphic data was 90.8%. CONCLUSION: Serum CgA level is an effective marker of pheochromocytoma. Increased levels strongly correlate with tumor mass; therefore, small tumors may go undetected. The concordance between CgA level and the results of (131)I-MIBG scintigraphy is high. A CgA level in the reference range is highly predictive of normal scintigraphy findings. (+info)
MR findings of the spinal paraganglioma : report of three cases.
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Extraadrenal paragangliomas involving the spine is less common and usually takes the form of intradural compression of the cauda equina. The authors report three cases of spinal paragangliomas resulting in extradural spinal cord compression and their MR findings. The MR imaging revealed a well-demarcated extradural mass with low to intermediate signal intensity on T1-weighted images and intermediate to high signal intensity on T2-weighted images compared to paravertebral muscles. After Gd-DTPA administration, heterogeneous and intense enhancement was found. Multiple punctate and serpiginous structures of signal void due to high-velocity flow were noted around and within the tumors on all sequences. In one case, the signal void structures were well corresponded with feeding arteries on angiography. These may be the characteristic findings of the extraadrenal paraganglioma involving the spine. (+info)
A case of catecholamine induced heart failure with left ventricular hypertrophy accompanied by mid-ventricular obstruction.
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A 36 year old Turkish female patient complaining of widespread redness of the skin, shortness of breath, palpitations, nausea, hum and reverberation in the head was examined. The patient was diagnosed with catecholamine induced hypertension, which was caused by paraganglionoma. In addition, left ventricular concentric hypertrophy accompanied by systolic gradient in mid-ventricle, which is rarely observed, was determined by echocardiography. Hypertensive attacks and mid-ventricular systolic gradient disappeared after surgery. This case shows that one of the causes of the heart failure due to catecholamine releasing tumors can be left ventricular obstruction. (+info)
Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma.
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PURPOSE: Recently, familial paraganglioma (PGL) was shown to be caused bymutations in the gene encoding succinate dehydrogenase subunit D (SDHD). However, the prevalence of SDHD mutations in apparently sporadic PGL is unknown. We studied the frequency and spectrum of germ-line and somatic SDHD mutations in patients with parasympathetic PGL. EXPERIMENTAL DESIGH: We studied 57 unselected patients who developed parasympathetic PGLs (n = 105 tumors) and who were treated between 1987 and 1999 at the Erasmus MC (Rotterdam, the Netherlands). Thirty-eight (67%) of these patients (n = 51 tumors) lacked a family history of parasympathetic PGL. We used conformation-dependent gel electrophoresis and sequence determination analysis of germ-line and tumor DNA to identify SDHD mutations. We compared the clinical and molecular characteristics of sporadic and hereditary PGLs. RESULTS: Three different SDHD germ-line mutations were identified in 32 of the 57 (56%) patients. These included 19 of 19 (100%) patients with familial PGL and also 13 of 38 (34%) patients with apparently sporadic PGL. All three mutations were characterized as missense mutations (D92Y, L95P, and L139P) in highly conserved regions of the SDHD gene and were not observed in 200 control alleles. No somatic mutations were found. CONCLUSIONS: Germ-line mutations of the SDHD gene are present in a significant number of patients with apparently sporadic parasympathetic PGL. Somatic SDHD mutations do not play a significant role in the sporadic form of this tumor. Genetic testing for SDHD germ-line mutations should be considered for every patient presenting with this tumor, even if a personal or family history of PGL is absent, to allow appropriate clinical management. (+info)
Pheochromocytoma: the expanding genetic differential diagnosis.
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Pheochromocytomas and paragangliomas are tumors of the autonomic nervous system; pheochromocytomas are tumors of the adrenal medulla, and paragangliomas are extra-adrenal tumors arising from either the sympathetic nervous system or parasympathetic ganglia. It has previously been estimated that approximately 10%-15% of pheochromocytomas are due to hereditary causes. However, our increased understanding of the three hereditary syndromes (neurofibromatosis 1, multiple endocrine neoplasia type 2, and von Hippel-Lindau syndrome) in which pheochromocytoma is found and the recent discovery that mutations in genes in the succinate dehydrogenase family (SDHB and SDHD) predispose to pheochromocytoma have necessitated a re-evaluation of the genetic basis of pheochromocytoma. These studies indicate that the frequency of germline mutations associated with isolated pheochromocytoma is higher than previously estimated, with both hospital-based series and a large population-based series indicating that the frequency of germline mutations in RET, VHL, SDHB, and SDHD taken together approximates 20%. In all patients with pheochromocytoma, including those with known hereditary syndrome or a positive family history, the frequency of germline mutations in these four genes together approaches 30%. Given the frequency of germline mutations, consideration should be given to genetic counseling for all patients with pheochromocytoma and is particularly important for individuals with a positive family history, multifocal disease, or a diagnosis before age 50. Identification of patients with hereditary pheochromocytoma is important because it can guide medical management in mutation-positive patients and their families. This review provides an overview of the known genetic syndromes that are commonly associated with pheochromocytoma, examines recent data on the association of germline mutations in the succinate dehydrogenase gene family with pheochromocytoma, and suggests guidelines for the genetic evaluation of pheochromocytoma patients. (+info)
A RETROPERITONEAL TUMOUR OF THE CHEMODECTOMA TYPE.
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A tumour of the chemodectoma type arising in the retroperitoneal space and projecting between the layers of the transverse mesocolon is reported. Attention is drawn to the lack of correlation between the varied histological features and clinical findings in this group of tumours and the inadvisability of forecasting behaviour. (+info)
GLOMUS-LIKE BODIES ON THE SUPERIOR MESENTERIC ARTERY.
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Minute endocrine-like structures have been detected where the cranial parasympathetic nerves cross a main vessel which carries blood to the heart, brain or arms. This suggests that their sites are fixed by function. These structures are the vago-tympanic and jugular glomera in the depths of the petrous bone near the jugular vein, carotid bodies, and aortic arch bodies, at crossings by the vagi. They have not been found in the human abdomen, although primary tumours with their endocrine-like structure do occur there.With the thought that these non-chromaffin glomus bodies may be the multiple miniature parasympathetic homologues of the adrenal medullae, a microscopic search was made for them at the root of the superior mesenteric artery. In 10 out of 15 aortas, glomera similar in appearance to the carotid body were found near the midline, about 1 cm. distal to the root of the artery and some 3 mm. external to its adventitia. In a single median section of celiac artery, one of these bodies was also found in a corresponding position. These form vital links for the concept that such bodies are parasympathetic endocrines. Because these bodies were discovered in two of the possible locations predictable for them in the human abdomen, the view that they comprise a definite system is strongly supported. (+info)
Pathologic and immunohistochemical findings in a feline aortic body tumor.
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The presence of a heart-base tumor was diagnosed by ultrasound imaging in a 10-year-old, female, domestic shorthaired cat presenting with dyspnea and pleural effusion because of the presence of a modified transudate. Hematology and clinical chemistry were unremarkable. The owner elected euthanasia. At necropsy, a locally extensive, firm, multilobulated nodule surrounded the pulmonary vein. The tumor was composed of lobules of large polygonal cells separated by a fine fibrovascular stroma. Tumor cells infiltrated the myocardium, and neoplastic emboli were present, but no metastases were macroscopically detectable. Tumor cells were immunohistochemically positive for chromogranin A, for synaptophysin and, faintly, for neuron-specific enolase and negative for vimentin, cytokeratin, alpha smooth muscle actin, glial fibrillary acidic protein, thyreoglobulin, and calcitonin. Based on histologic and immunohistochemical findings, the diagnosis of chemodectoma was made. (+info)