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)

The records of 18 patients with multiple endocrine neoplasia (MEN) type 2A in a family consisting of 87 members in 5 generations, were reviewed with respect to age at onset and length of survival in a study of the natural history of this syndrome. Of these 18 patients, 8 were alive following surgical treatment, while 10 had died without treatment. The clinical onset of medullary thyroid carcinoma was noticed as a nodule in the neck at between 17 and 34 years of age (mean 24 years); the onset of pheochromocytoma was characterized by palpitation, hypertensive attacks or recurrent headache at between 17 and 42 years of age (mean 27 years); and death occurred in 10 patients at between 23 and 67 years of age (mean 40.6 years). This information on the age at onset of individual clinical manifestations, and on the length of survival of gene carriers, may be useful for clinicians who are asked to assess the risk of the development of this syndrome in a genetically predisposed asymptomatic individual, because screening tests are often refused by members of Japanese families with MEN type 2A.
 ...
PMID:The natural history of multiple endocrine neoplasia type 2A--a clinical analysis. 197 66

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.
 ...
PMID:Surgical treatment of medullary carcinoma of the thyroid. 197 81

In the absence of distant disease, the pathologic diagnosis of malignancy in pheochromocytoma or paraganglioma is impossible. In an effort to establish the true incidence of recurrence in this disease, we have analyzed long-term follow-up (average, 15.8 years) of 98 patients who underwent complete resection of localized, noninvasive, histologically-benign pheochromocytomas and paragangliomas at our institution between 1960 and 1976. Eighty-eight patients had nonfamilial, sporadic pheochromocytoma/paraganglioma. Nine had multiple endocrine neoplasia (MEN) type 2 (2A: 7, 2B: 2), and 1 had familial pheochromocytoma. Seventy-nine patients had single pheochromocytomas; 10 had single extraadrenal tumors (paragangliomas); and 9 had multicentric or bilateral adrenal tumors. Six patients (6.5%) developed recurrent pheochromocytoma after documentation of normal postoperative urinary catecholamine levels. One of these patients had MEN 2A. The recurrences developed at intervals from 5 to 13 years following initial resection. These were distant in 3 patients, local in 2, and both local and distant in a single patient. None of the recurrences occurred in the 13 patients who, on pathologic rereview, had either local or vascular invasion. No paraganglioma recurred. Life-long follow-up of all patients who have had pheochromocytomas or paragangliomas resected is mandatory.
 ...
PMID:Long-term evaluation following resection of apparently benign pheochromocytoma(s)/paraganglioma(s). 197 22

In the differential diagnosis of endocrine symptoms, the autosomal dominant multiple endocrine neoplasia (MEN) syndromes are rare but important. We found seven index cases of MEN-I in 176 patients with adenomas of the anterior pituitary and 26 patients with primary hyperparathyroidism. Of 23 cases of medullary thyroid carcinoma and eight cases of pheochromocytoma, 14 patients are classified as MEN-IIa and one as MEN-IIb. Family screening identified six MEN-I and seven MEN-II cases among 32 individuals examined. Because of autosomal dominant inheritance and sometimes-delayed manifestation of the complete syndrome, screening of healthy and affected family members should be repeated at least every other year.
 ...
PMID:The importance of multiple endocrine neoplasia syndromes in differential diagnosis. 197 10

The syndrome of multiple endocrine neoplasia type 2B (MEN 2B) resembles that of MEN 2A in that both include medullary carcinoma of the thyroid, pheochromocytoma, and autosomal dominant inheritance, but is distinct in that MEN 2B patients have neuromas of the mucous membranes. MEN2A has been linked to RBP3, D10S5, FNRB, D10S15, and D10Z1 near the centromere of chromosome 10. We examined linkage between MEN2B and RFLPs on chromosome 10 in all available members in two or three generations of 14 kindreds. The centromere marker D10Z1 was linked to MEN2B with a peak lod score of 5.42 at theta = 0.02. One possible recombinant was observed between D10Z1 and MEN2B. Multipoint analysis of RFLPs at FNRB, D10Z1, RBP3, and D10S15 gave a peak lod score of 7.12 at the midpoint between D10Z1 and RBP3 on the long arm (band q11). The most likely gene order FNRB-D10Z1-MEN2B was 27 times more likely than MEN2B-FNRB-D10Z1 and 31/2 times more likely than FNRB-MEN2B-D10Z1. Additional data will be required to establish the order of these loci with confidence.
 ...
PMID:Linkage of the multiple endocrine neoplasia type 2B gene (MEN2B) to chromosome 10 markers linked to MEN2A. 197 53

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.
 ...
PMID:[Early detection of medullary thyroid carcinoma in multiple endocrine neoplasia type II]. 198 64

We present a case of unilateral adrenal medullary hyperplasia in a 63-year-old woman with clinical signs and symptoms of pheochromocytoma unassociated with multiple endocrine neoplasia. The surgically removed adrenal gland revealed diffuse medullary hyperplasia with multiple micronodules measuring up to 2 mm. The micronodules were composed of enlarged chromaffin cells with atypia, histologically similar to those of pheochromocytoma, forming small solid alveolar patterns separated by a fibrovascular stroma. Removal of the hyperplastic adrenal gland resulted in disappearance of paroxysmal nocturnal hypertension and palpitation. These results suggest that diffuse and nodular medullary hyperplasia is the precursor of pheochromocytoma.
 ...
PMID:Adrenal medullary hyperplasia. Hyperplasia-pheochromocytoma sequence. 226 Apr 75

We describe a patient who presented with constitutional symptoms, severe hypertension, and purpuric lesions over the knees, thighs, and penis. The patient was eventually diagnosed as having multiple endocrine neoplasia type II, with cutaneous leukocytoclastic vasculitis. The cutaneous vasculitis persisted despite treatment with high-dose systemic corticosteroids, but rapidly resolved after the removal of bilateral pheochromocytomas. This case demonstrates cutaneous leukocytoclastic vasculitis in association with pheochromocytoma.
 ...
PMID:Cutaneous vasculitis associated with pheochromocytoma. 226 Oct 6

Pheochromocytoma exists in black African countries with the same frequency observed in other places. The characteristics of our series of nine patients are the followings: an average age of 19, 6 years old, a sex-ratio of 1, 25, a paroxysmal high blood pressure for six patients, no MEN neither malignant tumors, the measures of V.M.A. done positively eight times, a retropneumoperitoneum scan, seven arteriographies, three echographies which were consistently positive, one death post surgery by collapsus consecutive to tumor excision, only one contralateral recurrence and positive followings in all other cases.
 ...
PMID:[Pheochromocytoma in black Africa. Report of 9 cases]. 227 50

Clinical features of epinephrine release led to the finding of spontaneously elevated plasma epinephrine concentrations in five patients, in four of whom plasma norepinephrine concentrations were normal. Adrenal medullary hyperplasia was suspected in one patient, whose first cousin had multiple endocrine neoplasia type IIa, and in two others, all of whom have experienced relief from symptoms during propranolol or atenolol administration. The other two patients had unilateral adrenal cysts, with negative metaiodobenzylguanidine scans and no histological evidence of pheochromocytoma, but complete relief of symptoms by excision of the cysts. In one patient, Cushing's syndrome and associated hypertension, diabetes, and ischemic finger-tip ulceration all disappeared after surgery. It is concluded that spontaneous hyperepinephrinemic manifestations can be received by beta-blockers or, when an adrenal mass is present, by unilateral adrenalectomy even when the metalodobenzylguanidine test result is negative.
 ...
PMID:Primary hyperepinephrinemia in patients without pheochromocytoma. 236 52


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