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

We have performed linkage analysis on 32 families with hereditary medullary thyroid cancer (MTC) with seven polymorphic DNA probes situated near the centromere of chromosome 10. Nineteen of these families were affected with multiple endocrine neoplasia type 2A (MEN 2A), and the remainder had MTC without pheochromocytoma. There were no instances of recombination between the MEN 2A susceptibility gene and the IRBP.H4 marker. Two other probes, TB14.34 and MCK2, are also tightly linked (theta = 0.00 and theta = 0.02, respectively). Because TB14.34 and IRBP.H4/MCK2 are situated on opposite sides of the MEN 2A gene, screening with flanking DNA markers is now feasible.
 ...
PMID:Early detection of hereditary medullary thyroid cancer with polymorphic DNA probes. Groupe d'Etude des Tumeurs a Calcitonine. 257 37

Hereditary medullary thyroid carcinoma (MTC) appears in three forms: 1) in association with pheochromocytomas and parathyroid hyperplasia (multiple endocrine neoplasia type 2A [MEN 2A]); 2) with pheochromocytomas, neuromas of the mucous membranes, and a marfanoid appearance (MEN 2B); and 3) without pheochromocytoma. Despite these differences in presentation, age of onset, and clinical severity, limited genetic studies suggest that the three MTC variants may be due to inherited mutations at the same gene locus. We present further data in support of the hypothesis that allelic variation may underlie the diversity of these endocrine neoplasia syndromes.
 ...
PMID:Hereditary medullary thyroid carcinoma: genetic annalysis of three related syndromes. Groupe d'Etude des Tumeurs a Calcitonine. 257 38

Twenty-two patients with the multiple endocrine neoplasia type 2 (MEN 2) syndrome were screened for pheochromocytoma since it is a major cause of morbidity in MEN 2 families. Clinical symptoms, biochemical parameters, ultrasound, computed tomography or magnetic resonance imaging, and meta-iodo-benzylguanidine (MIBG) scintigraphy were evaluated for detection of adrenal tumors. Clinical symptoms and plasma or urine catecholamines appeared to be nonspecific, whereas MIBG scintigraphy was highly specific and the most sensitive parameter. Patients older than age 30 should be scintigraphically screened at least once despite the radiation exposure. Demonstration of only slight uptake is not an indication for surgery but rather for careful follow-up.
 ...
PMID:Screening for pheochromocytoma in the MEN 2 syndrome. 257 45

We have previously described a kindred with hereditary medullary thyroid carcinoma and pheochromocytoma (multiple endocrine neoplasia type 2A [MEN 2A]) with localized pruritic cutaneous manifestations present only in affected members. Although the initial skin biopsies reported did not show amyloidosis, subsequent skin biopsy results reported here have demonstrated amyloid which stained for keratin but not for calcitonin and established that this family represents an association of a rare autosomal dominant form of lichen amyloidosis with MEN 2A.
 ...
PMID:Cutaneous lichen amyloidosis associated with multiple endocrine neoplasia type 2A. 257 49

Pheochromocytoma is a major cause of morbidity and mortality in the multiple endocrine neoplasia type 2 (MEN 2) syndrome. For the physician, surgical treatment seems well justified even though bilateral adrenalectomy will induce iatrogenically complete loss of adrenocortical function. For the patient this treatment may be a cause of medical problems as well as worry. We have evaluated quality of life after bilateral adrenalectomy in 27 MEN 2 patients through a combined oral and written approach. Mortality was low (one of 27), as was serious morbidity. Most patients had adapted well to the postadrenalectomy state. However, fatigue, worry, and noncompliance with daily medication often caused problems.
 ...
PMID:Quality of life after bilateral adrenalectomy in MEN 2. 257 54

Fifty adrenalectomy specimens containing normal (n = 3), hyperplastic (n = 4), or neoplastic (n = 43) medullary tissue were subjected to quantitative measurements of DNA content. Of the 43 pheochromocytomas, 16 were neoplasms inherited in the setting of multiple endocrine neoplasia type 2A. Five of 27 sporadic pheochromocytomas followed a malignant clinical course. Follow-up data were available in 25 patients. In normal medulla and adrenomedullary hyperplasia either diploid or euploid DNA distributions were found. In contrast, 87% (33 of 38) of the benign and all five malignant pheochromocytomas exhibited nondiploid or aneuploid DNA histograms. No differences in DNA content existed between sporadic and hereditary tumors. In contrast to earlier reports, in this study DNA cytophotometry was not suitable to discriminate benign from malignant adrenomedullary tumors. In addition, DNA measurements appeared not to be a useful tool to assess the prognosis of an individual malignant pheochromocytoma.
 ...
PMID:DNA cytophotometric findings in pheochromocytoma. 257 60

A young man presenting with Cushing's syndrome was found to have multiple endocrine neoplasia type 2b MEN 2b and adenomatous colonic polyposis with duodenal and gastric polyps. The entire syndrome of MEN 2b was present, including metastatic medullary carcinoma of the thyroid, a pheochromocytoma, and peripheral nerve abnormalities. The concurrence of these two inherited multiple neoplasia syndromes may reflect a common pathogenetic step in this patient.
 ...
PMID:Adenomatous polyposis coli and multiple endocrine neoplasia type 2b. A pathogenetic relationship. 285 97

Ultrasound screening in 9 and 21 members, respectively, of two families affected by familial C-cell carcinoma, as well as sonographic findings in 6 patients with sporadic medullary carcinoma of the thyroid (MCT), are reported. Unilateral and bilateral tumor nodules were identified by sonography in 12 of a total of 13 patients with MCT (n = 9) or local tumor recurrence following thyroidectomy (n = 4); one carcinoma, 3 X 6 mm in diameter, was missed. Nine of the 12 (75%) were clinically occult, nonpalpable C-cell carcinomas. The smallest occult MCT correctly diagnosed by ultrasound had a diameter of 4 mm. A positive correlation was found between the sonographically determined tumor mass (number/size of nodules/metastases) and the plasma calcitonin level. Pheochromocytomas were diagnosed by ultrasound as part of a multiple endocrine neoplasia (MEN IIa) in two patients with MCT. The echomorphologic findings of the intrathyroid C-cell carcinomas and their metastases display characteristic but nonspecific features. Sonographic findings on these tumors should therefore not be interpreted without consideration of plasma calcitonin assays.
 ...
PMID:Ultrasound diagnosis of C-cell carcinoma of the thyroid. 285 98

An increased synthesis of serotonin by medullary thyroid carcinoma (MTC) has been postulated because an increased concentration of serotonin in the MTC cells and an increased urinary excretion of 5-hydroxyindoleacetic acid have been observed in some patients with MTC. Ten patients with sporadic MTC and 18 patients with familial MTC of either the MEN-IIa or MEN-IIb types were investigated. Three of the patients with MEN-IIa and the patient with MEN-IIb had concomitant pheochromocytomas. The concentrations of serotonin in serum were measured in order to investigate the contributions of the MTC and pheochromocytoma to the overall synthesis of serotonin. The concentrations of serotonin in sera from patients with MTC or MEN-IIa without pheochromocytomas were not different from the concentrations measured in healthy subjects (P greater than 0.10). The four patients with MEN-II syndromes with pheochromocytomas had increased concentrations of serotonin in sera (P less than 0.01), and decreases in the concentrations occurred following adrenalectomy in all four patients. The results show that the MTC made only little if any contribution to the overall synthesis of serotonin in the 28 patients studied; and serotonin was produced in pheochromocytoma tissue from four patients with MEN-II syndromes with pheochromocytoma.
 ...
PMID:Serotonin (5-hydroxytryptamine) in medullary thyroid carcinoma with or without pheochromocytoma. 286 Oct 94

A case of multiple endocrine adenopathy (MEA III) presenting as pheochromocytoma complicated the immediate puerperium. The patient presented with paroxysmal changes in blood pressure and episodic headaches with vertigo. Computed tomography identified a left adrenal mass that was diagnosed preoperatively as pheochromocytoma, with the diagnosis subsequently confirmed on histologic sections. Pheochromocytoma complicating pregnancy is rare, and fewer than 150 cases have been reported on. MEA III presenting as pheochromocytoma and complicating the puerperium is described here for the first time.
 ...
PMID:MEA III presenting as pheochromocytoma and complicating pregnancy and the puerperium. A case report. 286 83


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>