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)

Three patients with a sporadic form of multiple endocrine neoplasia (MEN) IIb are presented. MEN IIb is the association of medullary carcinoma of the thyroid (MTC), pheochromocytoma and multiple mucosal neuromata. The age at diagnosis and primary therapy of MTC was relatively late (8, 16, 18 years) although thyroid enlargement (two cases), typical marfanoid habitus (two cases) or multiple mucosal neuromata (one case) had been evident since early childhood. The diagnosis was confirmed by measurements of tumour markers like calcitonin (CT) and carcinoembryonic antigen (CEA) for MTC, measurements of vanillylmandelic acid for pheochromocytoma, evaluation of the thyroid gland by sonography, scintigraphy and fine needle biopsy, and investigation of the adrenals by computer tomography and meta-(I-131) iodobenzylguanidine (I-131-MIBG) scintigraphy. After surgical treatment determinations of tumour markers confirmed relapses of MTC in all cases. Early diagnosis of MEN IIb, which could be made by recognition of the typical clinical appearance, is of special importance because of the poor prognosis of MTC.
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PMID:Importance of early diagnosis and follow-up in multiple endocrine neoplasia (MEN II B). 639 35

The natural history and prognostic factors of medullary carcinoma of the thyroid (MCT) were studied in 161 patients seen at the University of Texas M. D. Anderson Hospital and Tumor Institute at Houston between 1944 and 1983. One hundred twenty-five patients (77.6%) had the sporadic variety of MCT, 31 patients (19.3%) had multiple endocrine neoplasm (MEN) type IIa and 5 patients (3.1%) had MEN-IIb. The disease occurred equally in both sexes (M:F ratio 1:1.05). Thyroid nodules were the most common presenting feature especially in patients with the sporadic disease and MEN-IIb. Fifteen patients with MEN-IIa had occult MCT; the diagnosis was made through screening of family members with calcitonin measurement before and after stimulation with calcium or pentagastrin. Sixteen patients with MEN-II had pheochromocytoma and 7 had hyperparathyroidism. Total thyroidectomy was the most commonly performed operation. The lowest incidence of recurrence occurred in patients who underwent total thyroidectomy and modified neck dissection. Radioactive 131I was used as adjunct to surgery in 19 patients but it did not improve the survival or lower the incidence of recurrence. Patients who received postoperative radiotherapy had significantly lower adjusted survival rates than those treated by surgery alone, but we tended to irradiate patients with more advanced disease. Chemotherapy was administered to 11 patients with disseminated metastases but the response was poor. The 5- and 10-year adjusted survival rates of all the patients with MCT were 78.2% and 61.4%, respectively. Patients with MEN-IIa had much better rates than patients with sporadic disease (p = 0.0005), who were 7.74 times more likely to die of MCT. The stage of the disease at presentation was a major prognostic factor. Patients with stages III or IV disease were 7.31 times more likely to die of MCT than those with stages I or II. There was no significant difference in survival between patients with stages I and II or III and IV. The presence of cervical lymph node metastases did not affect the survival adversely. Direct extension with involvement of tissue was a bad prognostic sign. Patients younger than 40 years old at the time of diagnosis of MCT had a significantly better adjusted survival rate than those who were older. Women had a better prognosis than men, who were 1.89 times more likely to die of MCT. Diarrhea was a bad prognostic sign. However, it occurred more frequently in patients with advanced stages of the disease and larger tumor mass.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Medullary carcinoma of the thyroid. A study of the clinical features and prognostic factors in 161 patients. 650 83

The subcellular storage site for catecholamines in normal adrenal gland and pheochromocytoma tissue is the secretory granule or chromaffin granule (vesicle). Since some pheochromocytomas also contain calcitonin, we examined the occurrence and subcellular storage of calcitonin in 15 tumors from 12 patients with pheochromocytoma using a sensitive human calcitonin RIA. Only 1 of these patients had medullary thyroid carcinoma. The tumors of 9 patients contained calcitonin, from 1,705-3,602,457 pg/tumor. Highly purified chromaffin granules were prepared by sucrose density gradient centrifugation. The granules from 9 tumors in 8 patients contained calcitonin in amounts varying from 1,156-201,426 pg/tumor, accounting for 24 +/- 8% of the total calcitonin. Dilutions of chromaffin granule calcitonin immunoreactivity were parallel to the standard calcitonin RIA curve, which indicated antigenic similarity between pheochromocytoma calcitonin and synthetic human calcitonin; on gel filtration, chromaffin granule calcitonin coeluted with [125I]human calcitonin monomer, indicating size similarity. Thus, calcitonin seems to be present in the chromaffin secretory granules of most pheochromocytomas.
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PMID:Immunoreactive calcitonin in catecholamine storage vesicles of human pheochromocytoma. 682 55

Medullary cancer of the thyroid is rare but of unusual biologic interest. It originates in the thyroid parafollicular or C cells that are of neural crest origin and that secrete calcitonin. Calcitonin measurements, particularly after pentagastrim administration, are useful in detecting the tumor and following its progression. Ninety percent of medullary cancers are sporadic and 10% are familial; the latter may be associated with pheochromocytoma and parathyroid hyperplasia-adenoma. Initial symptoms of both the sporadic and familial varieties include thyroid mass, diarrhea, and less often, flushing. Uninvolved members of kindreds with the disease should be followed up by repeated measurements of calcitonin after pentagastrim and calcium infusion and should be treated when a positive test result is obtained. Therapy involves total thyroidectomy plus node dissection if indicated. In addition, postoperative radiation may reduce the recurrence rate.
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PMID:Medullary carcinoma of the thyroid. 684 63

Multiple endocrine neoplasia, type 2b (MEN 2b) is a disorder characterized by a distinct phenotype and a predisposition for medullary thyroid carcinoma (MTC) and pheochromocytoma. Two siblings aged 3 and 6 years with MEN 2b, who had elevated plasma calcitonin levels suggesting the presence of MTC are described. Microscopic foci of MTC were found in their thyroid glands and the glands were removed. In the younger child, a metastatic focus was present in a cervical lymph node. Of 12 previously reported children with MEN 2b and MTC who were less than 10 years of age at diagnosis, five had metastases. One of the present patients is the youngest described with this complication. The high frequency of metastases in very young patients with this syndrome has not been emphasized previously. These findings indicate the need for early diagnosis of MEN 2b and the importance of thyroidectomy at the earliest possible age when MTC is suspected by calcitonin screening tests.
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PMID:Metastatic medullary thyroid carcinoma in young children with mucosal neuroma syndrome. 709 94

The case of a 27 year-old woman with typical manifestations of multiple endocrine neoplasia type II b is reported. Medullary carcinoma of the thyroid was detected on the occasion of an operation for goiter when she was 22 years of age. Constipation due to megacolon caused by intestinal neuroma had persisted since childhood. Neuroma of the tongue and lips, hypertrophic corneal nerve and Marfanoid habitus were also found. The presence of pheochromocytoma was suggested in view of the positive cold pressor and results of glucagon loading tests, but this remains inconclusive. There was prolonged and exaggerated response of growth hormone and luteinizing hormone after provocative tests for anterior pituitary gland, in spite of normal basal levels. Screening of her family members for medullary carcinoma of the thyroid was carried out by measurement of immunoreactive calcitonin. Two siblings were shown to be hypercalcitoninemic, presumably due to occult medullary carcinoma of the thyroid. This case appeared to be the first in Japan showing multiple endocrine neoplasia type II b accompanied by familial hypercalcitoninemia.
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PMID:A case of multiple endocrine neoplasia type II b: endocrinological evaluation and family screening. 710 60

This report concerns the history of a portugesian family including one case of MEN II a (female, born 1932, presenting medullary carcinoma of the thyroid--MCT--, hyperparathyroidism and suspected pheochomocytoma), and three others with MCT alone or in association with pheochromocytoma. The diagnosis of MCT has been made possible investigating six members of the kindred by use of IR - calcitonin measurements and pentagastrin injection. This provocative screening test is also of interest to follow operated patients.
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PMID:[Value of the pentagastrin test in familial hypercalcitoninemia]. 715 53

Multiple endocrine neoplasia, type IIb, is a rare syndrome characterized by mucosal neuromas, medullary thyroid carcinoma (MTC), pheochromocytoma and somatic abnormalities. A case of a 10-year-old girl with multiple mucosal neuromas and bilateral MTC is reported. The presumptive diagnosis of MTC was made on the basis of abnormal basal values of calcitonin and increased calcitonin secretion after pentagastrin injection. The manifestations of the syndrome are summarized, and the importance of repeated evaluation of thyroidal C-cell and adrenal medullary function in patients with the characteristic aspect of the syndrome is emphasized.
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PMID:Multiple endocrine neoplasia, type IIb. Report of a case. 726 85

This paper presents the results of the study of six patients with medullary thyroid carcinoma (MCT) and the epidemiological screening carried out on the families of individuals affected by MCT. Three patients had the familial and three the sporadic type of disease. In all the subjects the plasma calcitonin (CT) level was measured under basal conditions and after pentagastrin stimulation. Patients with familial disease were also found to have pheochromocytoma (MEA syndrome). One patient, whose thyroid was normal to palpation and radioisotope scanning and who did not have an elevated resting level of CT, showed a clearcut CT elevation after provocative testing and subsequently was shown, by surgery, to have a small nodule of C-cell hyperplasia. These results confirm that pentagastrin is a good stimulator of CT secretion and that i.v. administration of pentagastrin is a useful test in the investigation of MCT in its early subclinical stage.
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PMID:Medullary carcinoma of the thyroid. (Clinical and endocrinological features of six cases). 726 76

Plasma levels of calcitonin (CT) are highest in patients with medullary thyroid carcinoma (MTC). Plasma CT is also raised in some patients with carcinoma such as that of the breast, the lung or the pancreas, and in pheochromocytoma. It must be kept in mind, however, that plasma CT can be similarly raised in patients with renal failure, non-tumoral pulmonary disease or acute pancreatitis. In hypercalcemia patients with primary hyperparathyroidism the plasma CT is normal or only marginally elevated. It is speculated that the raised levels in pregnant and lactating women and in new-born infants prevent excessive bone destruction at times of greater physiological need for calcium. Larger molecular weight forms than monomeric CT (1--32) are circulating at least in plasma of patients with calcitonin-producing tumors and in renal insufficiency. The biological function of these larger molecular weight forms is not yet known. The discrepancies among the results of different laboratories can in part be explained by the immunoheterogeneity of the hormone and the different antigenic recognition sites of the antisera used. The measurement of plasma CT levels is nevertheless important for the diagnosis of MTC and may prove useful in some patients with malignant tumors unrelated to the C-cells of the thyroid gland. CT-radioimmunoassay may be improved by using antibodies specific to the different forms of circulating calcitonin.
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PMID:[The differential diagnosis of hypercalcitoninism]. 733 Jun 42


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