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Query: UMLS:C0027651 (tumor)
 685,946 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 63-year-old female presented with the extremely rare occurrence of an aldosterone-secreting adrenocortical adenoma as part of the syndrome of multiple endocrine neoplasia type 1 (MEN1). Only two other MEN1 patients were reported in the literature with hyperaldosteronism. The patient's MEN1 syndrome consisted of the association of primary hyperparathyroidism due to parathyroid adenoma, a prolactinoma, and a toxic multinodular goiter. Elevated basal and meal-stimulated serum PP levels without demonstrable pancreatic tumor were also found. Genetic analysis of the aldosterone-secreting adenoma with DNA markers localized on chromosome 11 showed loss of heterozygosity in tumor DNA. Since the MEN1 syndrome is caused by loss of the tumor suppressor gene on chromosome 11 in the 11q13 region, it is probable that the same mechanism is associated with the formation of the adrenocortical adenoma.
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PMID:Aldosterone-secreting adrenal adenoma as part of multiple endocrine neoplasia type 1 (MEN1): loss of heterozygosity for polymorphic chromosome 11 deoxyribonucleic acid markers, including the MEN1 locus. 163 57

Important recent contributions to the literature on parathyroid neoplasia have dealt with advances in the understanding of the molecular genetics, diagnosis, and treatment of these neoplasms. Specific gene loci for multiple endocrine neoplasia type 1 and multiple endocrine neoplasia type 2a have been defined. The specificity and sensitivity of various imaging techniques for patients with these neoplasms have been quantified. Effective nonsurgical therapy with ultrasound-directed transcutaneous ablation of parathyroid neoplasms has been demonstrated. The long-acting somatostatin analogue has been documented to be effective treatment for hyperparathyroidism resulting from neuroendocrine tumors.
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PMID:Parathyroid neoplasia. 167 25

Multiple endocrine neoplasia type 1 (MEN 1) is an inherited disorder of autosomal-dominant type encompassing tumors of the parathyroid glands, anterior pituitary and endocrine pancreas. The genetic defect responsible for MEN 1 maps to the long arm of chromosome 11 (11q13). Constitutional heterozygosity for the MEN 1 region is lost in proliferating pancreatic endocrine and parathyroid tissue, which suggests that the MEN 1 gene belongs to the group of tumor suppressor genes (antioncogenes). Genetic screening by linkage analysis using RFLP markers allows selection of gene carriers with high degree of accuracy and makes it possible to concentrate the laborious biochemical screening efforts to family members at risk of developing the MEN 1 syndrome. Biochemical screening of the MEN 1 lesions in young asymptomatic individuals decreases the age at diagnosis with many years (decades) and therapeutic intervention can be instituted early. Although it still remains to be established whether early intervention will have an impact on mortality, our long-term experience with 20 MEN 1 kindreds suggests a reduced morbidity as a result of thorough biochemical screening.
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PMID:Genetic and clinical characteristics of multiple endocrine neoplasia type 1. 167 52

The surgical treatment of endocrine pancreatic lesion in the multiple endocrine neoplasia syndrome type 1 (MEN-1) has remained a controversial issue. Histologic studies have revealed that the pancreatic lesions generally consist of numerous microadenomas, spread throughout the pancreas, together with occasional larger tumors. The patients may also harbor multiple, mainly gastrin secreting, duodenal microadenomas. A total pancreatectomy/duodenectomy should theoretically be needed for cure, but has not been recommended due to the associated mortality and morbidity, considering also the favorable prognosis of most MEN-1 patients. When pancreatic involvement in MEN-1 is biochemically diagnosed efforts should be made to localize the lesions by computed tomography, angiography and, in some patients, also transhepatic portal vein catheterization and venous sampling (PTP). Hypergastrinemia and the Zollinger-Ellison syndrome (ZES) generally constitute two-thirds of the clinically detected pancreatic lesions in MEN-1. Surgery may be undertaken in ZES-MEN-1 patients with focal lesions visualized by radiology or PTP in order to minimize the risk of malignant development in a gross tumor. Patients with insulin excess and hypoglucemia as well as the rare vipoma patient may, even in the absence of radiologically visualized tumors, be subjected to exploration, and these patients are usually found to harbor one or several gross tumors. The more frequent clinically silent, mainly PP-producing tumors should be removed when visualized by radiology. However, indications for surgery also have to emphasize an unusually malignant behavior in certain kindreds and patients may thus have to be explored when only biochemical data indicate the presence of pancreatic lesions. Pancreatic operations in MEN-1 should generally include a corpus and tail resection, together with enucleation of lesions in the pancreatic head, and in addition to that a careful duodenal exploration. Intraoperative ultrasound examination appears to be of considerable value by its ability to reveal also smaller lesions which may escape palpation.
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PMID:Surgical treatment of endocrine pancreatic lesions in MEN-1. 167 54

Flow cytometry of medullary thyroid carcinoma (MCT) was performed in a large family with the MEN-2A syndrome. Of 15 family members with MCT five patients (10-27 yr) were without lymph node metastases. Six patients had a normal pentagastrin test after operation. All patients are alive and free of symptoms of MCT 6-9 yr after total thyroidectomy and an ablative dose of 131-I. In 12 of the 15 patients with MCT flowcytometry of paraffin-embedded tissue could be performed. The majority of all tumors (n = 9) were classified as peridiploid. Metastatic tumor, 6 years after thyroidectomy, in one of the patients was diploid. Only two MCT were clearly aneuploid. In one patient the tumor was tetraploid. We conclude that the majority of the MCT patients in this family with the MEN-2A syndrome have no or limited ploidy aberrations in their tumors, which correlates well with the favourable prognosis of familial MCT.
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PMID:Nuclear DNA content of medullary thyroid carcinoma in a large family with the MEN-2A syndrome. 167 51

A review of 106 patients with multiple endocrine neoplasia (MEN) type 1 reported between 1966-1989 in Japan was conducted in order to clarify the natural history of this disease. Sporadic MEN 1 was found in 61 patients, and familial MEN 1 was found in 45 patients from 15 families. The mean ages at diagnosis of the two groups were 46.2 and 41.3 years, respectively, and the male to female ratio was 3:4. With regards to the involvement of the pituitary, parathyroid and endocrine pancreas, the combination of three endocrine glands was 31%, and that of two was 48%, in which the pituitary, parathyroid and endocrine pancreas had tumorous lesions in 60%, 88% and 63%, respectively. The first clinical manifestations of MEN 1 were the symptoms of hyperparathyroidism (32%), pituitary tumors (26%), peptic ulcer (28%) and hypoglycemia (13%). These symptoms appeared between 6 and 57 years of age (mean 34 years). The main clinical symptoms of the pituitary tumors were acromegaly and gigantism (37%), galactorrhea-amenorrhea syndrome (20%), Cushing's disease (10%) and visual disturbance due to compression of the tumor (20%). The clinical manifestations of hyperparathyroidism were mainly asymptomatic hypercalcemia (41%), nephrolithiasis (42%) and osteitis fibrosa (5%). In the patients with pancreatic tumor, Zollinger-Ellison syndrome (52%) and hypoglycemic symptoms (42%) were found. Tumors in the adrenal cortex, thyroid, carcinoid and lipoma were detected in association with MEN 1 in the frequencies of 28%, 21%, 9% and 5%, respectively. Death was reported in 37 patients between 9 and 86 years of age (mean 50.0 years). The cause of death was gastrointestinal bleeding and perforation (45%), surgery (24%) and disseminated carcinomatosis (18%). Recently, the gene predisposing to this syndrome has been assigned to chromosome 11 (11q13) in non-Japanese cases but not yet in Japanese MEN 1 patients.
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PMID:[Clinical characteristics in multiple endocrine neoplasia type 1 in Japan: a review of 106 patients]. 167 21

A case of Zollinger-Ellison syndrome of multiple endocrine neoplasia type 1 (MEN 1) origin with hyperparathyroidism and with a rise in serum gastrin due to an unusual parathyroid "gastrinoma" has been investigated. The patient had multiple endocrine tumours (pituitary and parathyroid), but no evidence of pancreatic or duodenal gastrin-producing neoplasm. Radio-immunoassay, immunohistochemistry and electron microscopy showed gastrin in one parathyroid adenoma. These findings, together with a decrease of gastrinaemia after parathyroidectomy suggest that true gastrin was produced by parathyroid tumour cells and that they themselves may be the origin of the hypergastrinaemia. Our ultrastructural investigation extends these observations and the results are discussed.
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PMID:Parathyroid gastrin and parathormone-producing tumour in the Zollinger-Ellison syndrome of MEN 1 origin. 168 56

A case of islet cell tumor occurring in a patient with the multiple endocrine neoplasia type I syndrome is reported. Immunostaining for insulin was strongly positive in the tumor cells. Numerous dense-core granules of endocrine caliber were identified ultrastructurally. Morphometric analysis of the secretory granules in 20 islet cell tumors gave a granule size of 182 +/- 52 nm (mean +/- standard deviation).
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PMID:Islet cell tumor. 168 55

Primary hyperparathyroidism is caused by defects in the parathyroid gland. Investigations have implicated three interesting genes whose mutation can cause primary hyperparathyroidism. Familial hypocalciuric hypercalcemia is believed to be an atypical form of primary hyperparathyroidism with an inherited defect in calcium recognition expressed not only in all parathyroid chief cells (thus a polyclonal defect) but in some renal tubular cells as well. In typical primary hyperparathyroidism a monoclonal parathyroid tumor is usually the central cause. Either of two apparently different genes on the long arm of chromosome 11 has been implicated in development of a parathyroid tumor clone. One gene (D11S287) was shown to have undergone a rearrangement with the parathyroid hormone gene on the short arm of the same chromosome (pericentromeric inversion) in a small fraction of tumors; the D11S287 locus may encode a growth stimulator. Another gene, the locus for familial multiple endocrine neoplasia type 1 (FEMEN1), is likely to encode a growth inhibitor. Inactivation of this gene or another nearby gene by somatic mutation has been indirectly implicated in one-quarter of sporadic parathyroid adenomas and in more than half of parathyroid tumors in FMEN1. In conclusion, studies have suggested three different mechanisms for parathyroid gland dysfunction in primary hyperparathyroidism: (1) a defect in calcium recognition, (2) a monoclonal tumor from overexpression of a growth stimulator, or (3) a monoclonal tumor from inactivation of a growth inhibitor.
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PMID:Etiologies of parathyroid gland dysfunction in primary hyperparathyroidism. 168 85

This report describes the concomitant occurrence of a somatostatin-rich duodenal carcinoid, a medullary thyroid carcinoma and a diffuse adrenal medullary hyperplasia in a patient with von Recklinghausen's disease. A 50-year-old Japanese man died from lung metastasis of a malignant schwannoma. In addition to extensive viscero-cutaneous neurofibromatosis, two different types of neuroendocrine tumors were found in the duodenum and thyroid gland at autopsy. The duodenal tumor, which was located in the second portion, showed the histologic appearance of a carcinoid tumor with glandular differentiation and psammoma-bodies. Immunohistochemically the tumor cells were intensely positive for somatostatin. The thyroid tumor was composed of nests of tumor cells arranged in an endocrine pattern, and showed immunoreactivity for calcitonin. A review of the literature revealed no previously reported case of concomitant occurrence of duodenal somatostatinoma and medullary thyroid carcinoma in a single patient with von Recklinghausen's disease. Morphometric analysis of adrenal glands disclosed the presence of diffuse medullary hyperplasia. Thus, the present case exhibited a similarity in some respects with multiple endocrine neoplasia (MEN) syndrome, Type IIa or IIb.
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PMID:von Recklinghausen's disease associated with somatostatin-rich duodenal carcinoid (somatostatinoma), medullary thyroid carcinoma and diffuse adrenal medullary hyperplasia. 168 37


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