Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0031511 (pheochromocytoma)
 14,622 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The gene predisposing to multiple endocrine neoplasia type 2A (MEN 2A) has been assigned to chromosome 10, and affected gene carriers can be identified before the development of associated malignancy in some informative families. We applied these advances in gene mapping to clinical screening for possible pediatric surgery. A family with MEN 2A, consisting of 88 members and their spouses, was studied to test the reliability of the provocation of plasma calcitonin with pentagastrin and the possibility of DNA diagnosis of mutated gene carriers with DNA probes closely linked to the MEN2A gene including RBP3 and FNRB genes. Nineteen of the 88 were diagnosed as MEN 2A carriers. Twelve of them were treated surgically and the others died of medullay thyroid carcinoma (MTC) or pheochromocytoma. A strikingly sensitive response of calcitonin was observed in all those with MTC. The genotypes cosegregating with the abnormal allele at MEN2A in this family could be deduced from clinically established affected members. The early detection of gene carriers allows us to concentrate our screening efforts on children at high risk and to release non gene carriers from repeated unnecessary testing. MEN2A is one of the first cancer syndromes for which DNA screening permits early detection of members at high risk.
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PMID:Prediction of affected MEN2A gene carriers by DNA linkage analysis for early total thyroidectomy: a progress in clinical screening program for children with hereditary cancer syndrome. 135 90

The diagnosis of medullary thyroid carcinoma by biochemical and genetic testing is possible in families with multiple endocrine neoplasia type 2. At an early stage total thyroidectomy usually cures the patient. As the clinical penetrance of the autosomal dominant, transmitted, multiple endocrine neoplasia type 2 gene is not complete, family screening is indicated for every new patient who presents with apparently sporadic medullary thyroid carcinoma. Problems related to a screening programme and early diagnosis have led the members of the European Community Concerted Action: Medullary Thyroid Carcinoma group to formulate a consensus on biochemical and genetic screening. For biochemical screening, measurement of basal and pentagastrin and/or calcium stimulated serum levels of calcitonin by radioimmunoassay are essential starting at the age of three and continuing annually until 35 years of age. Furthermore, annual screening for pheochromocytoma by measuring the urinary excretion of catecholamines and for hyperparathyroidism by serum calcium determination is indicated. Genetic screening using linked markers can be done with a 95% accuracy in informative families when DNA is available from at least two family members proven to be affected. Biochemical screening can thus be reserved for gene carriers, while those at low risk can be reassured. Combined biochemical and genetic screening for multiple endocrine neoplasia type 2 is important and effective for the cure of medullary thyroid carcinoma.
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PMID:Early diagnosis of the multiple endocrine neoplasia type 2 syndrome: consensus statement. European Community Concerted Action: Medullary Thyroid Carcinoma. 136 56

In addition to a brief characteristic of the syndrome of multiple endocrine neoplasia type 2 and medullary thyroid carcinoma with a familial incidence which is a prerequisite of the syndrome, the authors submit an account on a group of 53 patients who were on the authors' records during the past 12 years. During this period the disease is systematically searched for in the families of newly diagnosed patients by examining the immunoreactive calcitonin level of relatives. Familial variants account for 28% of all medullary thyroid carcinomas. Patients who are on the records so far belong to 24 families. Approximately twice as often an isolated variant of the familial type of medullary carcinoma is involved, as compared with association with another endocrine affection, in particular pheochromocytoma (Sipple's syndrome), but associated forms will increase in number perspectively (multiple endocrine neoplasia 2A). The syndrome of multiple endocrine neoplasia 2B is very malignant but in view of the typical phenotype the disease should be diagnosed already before the change to malignancy--once the disease develops into the clinical stage the course is very adverse. From the original number of all familial tumours 38 subjects survive (72%), incl 22 who were subjected to bilateral total thyroidectomy based on screening in the preclinical stage. The prognosis of these individuals is very favourable, the calcitonin levels are throughout the follow-up period (2-10 years) repeatedly negative. With regard to the possible association with another endocrinopathy (pheochromocytoma or hyperparathyroidism) all must be followed up systematically (screening) with regard to the manifestation of an associated endocrinopathy frequently only after a longer time interval.
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PMID:[Multiple endocrine neoplasia type 2: familial variant of medullary carcinoma of the thyroid gland]. 136 6

We have followed a family with multiple endocrine neoplasia type 2A for 18 years. Four members have undergone total thyroidectomy for medullary thyroid carcinoma or C-cell hyperplasia, and one has required bilateral adrenalectomy for pheochromocytoma. None has developed hypercalcemic hyperparathyroidism, although parathyroid hormone levels were relatively high prethyroidectomy and fell postoperatively in the patients with high calcitonin levels. In three of the four cases, intestinal calcium absorption decreased following thyroidectomy.
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PMID:Mineral metabolic effects of thyroidectomy and long-term outcomes in a family with MEN 2A. 136 18

Pheochromocytomas may produce several vasoactive peptides. We studied a 39-year-old man who presented with paroxysmal flushing and abdominal pain with normal blood pressure. Laboratory and radiologic studies established the diagnosis of right adrenal pheochromocytoma, and histologic and ultrastructural examination showed the tumor to be a typical pheochromocytoma. Tissue culture yielded large quantities of norepinephrine and epinephrine. However, immunohistochemical studies, tissue assays, and in vitro cultures documented production of several peptides, including calcitonin gene-related peptide and vasoactive intestinal polypeptide in tumor cells. The patient has been asymptomatic after tumor resection. Production of multiple peptides by this tumor may account for the flushing and lack of hypertension, despite elevated catecholamine levels in this patient.
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PMID:Pheochromocytoma producing multiple vasoactive peptides. 173 41

Medullary thyroid carcinoma, comprising approximately 7% of thyroid carcinoma, produces calcitonin, which can be monitored by immunoassay for diagnosis, at preclinical stages, and for persistent disease and its extent. It presents as sporadic and hereditary forms. The latter consists of the multiple endocrine neoplasia (MEN)-2A syndrome, which includes pheochromocytomas and hyperparathyroidism in some families, and the MEN-2B syndrome, which consistently includes mucosal neuromas and somatic features. The carcinoma, especially the MEN-2B variety, is more aggressive than well-differentiated thyroid carcinoma. After the presence and management of a possible pheochromocytoma is resolved, treatment is by total thyroidectomy, the MEN-2 syndromes always indicating bilateral involvement. Gross evidence of medullary thyroid carcinoma is associated with metastases to regional lymph nodes, justifying removal of lymph nodes in the central neck, anterior superior mediastinum, and lateral neck. At operation, attention is given to preservation of parathyroid glands but also to removal of hyperplastic parathyroid glands; subtotal parathyroidectomy usually is needed if clinical hyperparathyroidism is evident. Diagnosis at the preclinical stage, C-cell hyperplasia, permits total thyroidectomy. Lateral cervical lymph node dissection is determined by biopsy of midjugular lymph nodes. In this situation, serum calcitonin levels are usually normal after operation, indicating cure. However, for palpable medullary thyroid carcinoma, serum calcitonin levels are often elevated after appropriate neck surgery. In this event, scanning techniques are used to monitor patients, and reoperation is performed if localization of medullary thyroid carcinoma is achieved. The mediastinum is particularly observed for recurrence. Reoperation is justified for recurrence in the neck and mediastinum. Early diagnosis and monitoring permits long-term survival. In the future it is anticipated that diagnostic genetic techniques will provide definitive and early diagnosis in the hereditary form, permitting earlier treatment with assurance of cure.
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PMID:Surgical treatment of medullary carcinoma of the thyroid. 197 81

The early diagnosis of medullary thyroid carcinoma was made in two among six examined siblings belonging to two sibships that were offsprings of multiple endocrine neoplasia type II parents. The calcitonin secretory reserve was determined by a combined test using Ca++ (2 mg/kg) and pentagastrin (0.5 mcg/kg), intravenously. Two abnormal tests made on different days supported the diagnosis. Basal calcitonin levels were moderately high (90-500 pg/ml; NL = 15-85 pg/ml) and peak levels were also abnormal (480-1500 pg/ml; NL less than 320 pg/ml), in both cases. Total thyroidectomy associated to prophylactic resection of lymph nodes from central neck region were performed in both. A small nodule (3-5 mm) was found in each lobe in both cases. Pathological and immunocytochemical data supported the diagnosis of medullary thyroid carcinoma. C-cell hyperplasia was present in the peritumoral zones. Pheochromocytoma and definite hyperparathyroidism were not detected in these cases. Two years after surgery, basal and stimulated serum calcitonin levels remained normal. Carcinoembryonic antigen levels were and continue to be normal, in both. These seem to be the first cases published in this country in which this early diagnosis was made.
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PMID:[Early detection of medullary thyroid carcinoma in multiple endocrine neoplasia type II]. 198 64

In order to test the clinical usefulness of new commercially available kits for determination of calcitonin serum concentrations, we investigated the family (N = 10) of a patient with medullary thyroid carcinoma and bilateral pheochromocytoma including his affected son, 10 athyreotic patients, totally thyroidectomized for non-medullary thyroid cancer, and 4 normal volunteers. Pentagastrin tests were performed in all subjects. Serum calcitonin levels before and after pentagastrin were determined by 4 kits. Kits A and B are immunoradiometric assays of the sandwich-type, kits C and D are radioimmunoassays, D being the one hitherto routinely used. Our results show that the new assays (kits A, B and C) have a better diagnostic accuracy in screening for medullary thyroid cancer than the RIA (kit D), hitherto used, where basal values overlapped with normals. Although basal values of normals were mostly near the detection limit of all 4 kits, kits A and B were sensitive enough to detect stimulation of calcitonin secretion by pentagastrin in all subjects with intact thyroid glands and kit C in most of them. The lack of increase in calcitonin after pentagastrin observed by kits A, B and C in athyreotic patients suggests deficiency of secretion of this hormone. Only kit D was unable to show this deficiency.
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PMID:Clinical evaluation of new assays for determination of serum calcitonin concentrations. 202 12

Fifteen patients with medullary carcinoma of the thyroid (MCT), who had persistently elevated levels of serum calcitonin (CT) and carcinoembryonic antigen (CEA) after total thyroidectomy, were studied in order to localize the sites of the recurrent disease. Routine diagnostic examinations, including ultrasonography (US) and computed axial tomography (CAT), were carried out in all the cases. Scintigraphy with radio-iodinated metaiodobenzylguanidine ((131I)-MIBG) was performed in 13 cases; selective venous catheterization (SVC) to reveal a gradient of CT levels was performed in 12 cases. Ten patients underwent both (131I)-MIBG scintigraphy and SVC. US and CAT revealed the sites of recurrent tumor in only 4 out of the total 15 patients. SVC in basal conditions showed the presence of small metastases in 2 cases, and after intravenous stimulus with pentagastrin in 4 others. The MIBG scan showed metastatic foci of sporadic MCT in 2 patients, residual medullary thyroid tissue in 4 others, and a pheochromocytoma in a previously undiagnosed patient with Sipple's syndrome. More particularly, MIBG scan and SVC showed the localization of residual or metastatic tumor in 10 cases. In all 10 cases, results of the MIBG scan and SVC were confirmed as true positive by subsequent surgery and histopathologic examination.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:(131I)meta-iodobenzylguanidine scintigraphy and selective venous catheterization after thyroidectomy for medullary thyroid carcinoma. 204 83

The diagnosis of pheochromocytoma in a 48-year-old man was confirmed by elevated catecholamine secretion and a left adrenal mass on computerized tomography. Because of a plausible family history for Multiple Endocrine Neoplasia Type II, a calcitonin level was determined which was elevated, and pentagastrin stimulation caused a 235% increase. These findings normalized following surgical removal of the single adrenal tumor. It is concluded that pentagastrin stimulation of calcitonin is not necessarily diagnostic of medullary thyroid carcinoma, and such a response in a patient presenting with pheochromocytoma may not indicate underlying Multiple Endocrine Neoplasia Type II.
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PMID:Pentagastrin stimulation of calcitonin in pheochromocytoma does not always indicate multiple endocrine neoplasia type II. 256 75


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