Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027651 (tumor)
 685,946 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a 54-year-old patient who entered the hospital because of flank pain of the left side, a prevesicular urethral calculus was found. On further investigation hypercalcaemia and hypophosphataemia were detected, possibly indicating hyperparathyroidism. When an ultrasound of the abdomen was made to exclude hydronephrosis, a tumor in the pancreas was found. The result of the fine needle biopsy of this tumor showed a neuroendocrine tumor. The examination of neuroendocrine parameters was without any reference to an active secreting process. On suspicion of a multiple endocrine neoplasia, a MRI of the hypophysis was made which showed no adenomatous alterations. The examination of the neuroendocrine parameters were without any reference to an active secreting process of the hypophysis, too.
 ...
PMID:[Pain in the side]. 197 93

The course of the disease in a patient with multiple endocrine neoplasia type IIa over a period of seven years is described. In spite of multiple diagnostic procedures, only a bone marrow biopsy was able to prove metastatic disease. All therapeutic measures, such as combination chemotherapy, sandostatin, bromocriptine, and 131Iodinemethylendiphosphonate-therapy were not effective in reducing tumor load or symptoms.
 ...
PMID:[Metastatic C-cell carcinoma with bone marrow carcinosis in type IIa multiple endocrine neoplasia (MEN). Diagnostic and therapeutic problems]. 197 74

The phrase multiple endocrine neoplasia (MEN) generally denotes an association of tumors so specific as to constitute a syndrome. Three well-recognized such syndromes exist. All are autosomal dominant traits and all have been tentatively mapped to specific chromosomes. Other purported endocrine tumor syndromes have been suggested either as new entities or as subtypes of the existing MEN syndromes. The evidence in favor of these contentions is examined critically. Only one "new" association, that of pheochromocytomas and islet cell tumors, seems reasonable, and even in this setting, some relatives have had manifestations of von Hippel-Lindau syndrome. There is no compelling reason why such conditions as von Hippel-Lindau syndrome, peripheral neurofibromatosis, McCune-Albright syndrome, and others should be reclassified as MEN syndromes, although awareness of their collective endocrine abnormalities is clinically important.
 ...
PMID:Multiple endocrine neoplasia: how many syndromes? 135 41

Recent linkage of the gene for multiple endocrine neoplasia type 2A and 2B to the centromeric region of chromosome 10 has provided new insight into the causes of medullary thyroid carcinoma and has provided tools to diagnose gene carriers status for this syndrome with greater than 90% certainty. This review focuses on how these advances influence the clinical management of both sporadic and hereditary medullary thyroid carcinoma and discusses how tests based on the genetic linkage studies will aid in the early diagnosis and treatment of this syndrome. In addition, the authors have focused on several controversial management questions regarding the type and extent of surgery for this thyroid tumor, the management of the patient with metastatic disease, and the approach to management of other manifestations of multiple endocrine neoplasia types 2A and 2B. This review attempts to provide a balanced overview of these complex issues.
 ...
PMID:Changing concepts in the management of hereditary and sporadic medullary thyroid carcinoma. 197 73

In the last 15 years, 29 subjects (13 males, 16 females) aged 8-69 years, belonging to 3 kindreds with multiple endocrine neoplasia type 2 (MEN-2) were studied with rapid i.v. calcium gluconate infusions (2 mg Ca++/kg in 1 minute) in order to detect the presence of medullary thyroid cancer (MTC). Serum samples were obtained at 0, 2, 5, 7 and 10 minutes. Calcitonin was measured by radioimmunoassay using a commercial kit. On the basis of the results obtained in a control group of 28 healthy volunteers, hypercalcitoninemia (HCT) was defined as basal and stimulated values above 100 and 200 pg/ml, respectively, in either sex. In 2 patients with nodular goiter, HCT correctly predicted the malignant nature of the lesions. Out of 22 clinically normal subjects, 3 had HCT: one refused consent for surgery, but in the remaining 2 MTC was found, without extraglandular extension. Seven patients with surgically proven MTC have been followed; 4 have shown HCT: 3 women refused permission for exploratory surgery, and a 46 year old male with enlarged lymph nodes in the neck was found to have metastatic papillary thyroid cancer. Both calcitonin and thyroglobulin were immunohistochemically discovered in metastases and the original thyroid tumor (differentiated thyroid cancer, intermediate type). There were 2 false negative tests in patients with metastatic disease. This type of biochemical screening in members of MEN-2 kindreds allows early detection of MTC and its prevention through thyroidectomy in a preneoplastic stage (C-cell hyperplasia).(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[Multiple endocrine type 2 neoplasia in 3 families]. 198 20

We examined the characteristics of patients with Zollinger-Ellison syndrome who developed a perforation prior to diagnosis to determine whether any clinical features were useful markers of the syndrome. Of 160 patients with Zollinger-Ellison syndrome, perforation occurred prior to the diagnosis being made in 11 (7%). At surgery, perforations were found in the duodenum in six cases and in the jejunum in five. In no case was tumor identified at emergency surgery, and the diagnosis of Zollinger-Ellison syndrome was made only in the postoperative period when excessive gastric secretions were noted. Neither acid output nor serum gastrin concentration were useful predictors for perforation. The patients, six men and five women, were 27-61 years old (median 48) and one had MEN-1. Three patients had no symptoms prior to the perforation. The other eight had symptoms for 1-15 years, with diarrhea occurring in 45% of the cases. Following the diagnosis of Zollinger-Ellison syndrome, patients were given medication to control gastric acid hypersecretion. Eight patients remained well, but the three patients who had had a partial gastrectomy had a complicated course despite medical therapy. Although features of perforation in Zollinger-Ellison syndrome are not specific, jejunal perforation or perforation associated with a history of diarrhea is suggestive of the diagnosis. Serum gastrin should be measured in every case and a partial gastrectomy avoided.
 ...
PMID:Peptic ulcer perforation as the presentation of Zollinger-Ellison syndrome. 198 99

Advances in molecular biology research continue to have a major impact on clinical medicine. These advances have provided a means to produce proteins previously available in limited supply and allow for the production of novel proteins that are improved agonists or else antagonists with greater specificity for therapeutic targets. Newer drug delivery systems should facilitate delivery of these proteins. By combining the capabilities to produce drug targets in acceptable quantities with improved methods for determining the three-dimensional structures of these targets, novel organic therapeutic molecules that act on these targets will be designed. Gene transfer therapy using genes that express important proteins or that encode "antisense" RNAs that inhibit the translation of specific mRNAs will soon become a reality. The use of RFLPs and PCR methodologies promises increased means to diagnose specific genetic diseases and infections. Most importantly, molecular biology is helping to understand the mechanisms of disease such that novel diagnostic and therapeutic approaches can be described. These advances are providing an understanding of the mechanisms involved in cancers of the thyroid gland. They have already led to an enhanced understanding of (1) the growth factors that control proliferation of the thyroid gland, (2) the potential steps in thyroid nodule and neoplasia development, (3) particular mutations that may occur as thyroid cancers develop, (4) oncogenes that are expressed in thyroid cancers, and (5) the genetic defects that are responsible for thyroid gland malignancies in the multiple endocrine neoplasia (MEN) syndromes. With the latter, the RFLP technology has already provided an enhanced means to diagnose the disorder. With further progress, enhanced means for diagnosis and treatment should emerge. Molecular biology techniques are contributing to an increased understanding of the mechanisms of development of autoimmune thyroid disease as with Graves' disease and Hashimoto's thyroiditis. The potential role of infections, histocompatibility antigens, thyroid gland and extraglandular antigens, immune modulators, subpopulations of T-cells such as suppressor and helper cells, other cells involved in immune responses, and a combination of influences of several different functions on the thyroid gland are being defined. This knowledge should soon suggest improved means for diagnosis and treatment. Understanding of the function of the thyroid hormone receptors should have clinical importance. This knowledge suggests a means to develop thyroid hormone antagonists that may be used to more rapidly ameliorate the effects of hyperthyroidism and could be useful in nonthyroidal disorders such as cardiac arrhythmias.(ABSTRACT TRUNCATED AT 400 WORDS)
 ...
PMID:Advances in molecular biology. Potential impact on diagnosis and treatment of disorders of the thyroid. 198 46

It is now widely accepted that human neoplasms arise as a result of a sequence of mutations affecting the structure of genes involved in growth control. In humans, indirect measurements based on age dependent tumor incidence predict that, on average, the accumulation of 5 to 6 different steps is needed to initiate tumor formation. These mutations do not appear to be random, in that certain neoplasms show prediction for structural aberrations in specific genes. In thyroid tumors, some of gene abnormalities were found. The point mutations of ras oncogenes, predominantly H-ras codon 12, are found in 20-25% of follicular adenomas and papillary carcinomas. Recently, the gene rearrangements of the oncogenes trk and ret were identified in the DNA from papillary carcinomas. About 25% of papillary carcinomas contained an introchromosomal (10q) gene rearrangement involving the tyrosine kinase domain of the ret oncogene with an unknown amino-terminal sequence. The mutations of trk and/or ret were not observed in other thyroid neoplastic phenotypes. In medullary thyroid carcinoma, which is a tumor of the parafollicular, calcitonin-secreting C cell of the thyroid, approximately 20% of patients have autosomal dominant inherited forms. Germ line abnormalities on chromosome 10 are linked to at least one type of genetic medullary thyroid carcinoma (MEN type 2a). In the present time, the person who has the abnormality of gene causing MEN type 2a is able to detect by using DNA marker before the onset of tumor.
 ...
PMID:[Thyroid carcinoma]. 198 98

Loss of heterozygosity (LOH) at specific loci may help localize tumor suppressor genes involved in the formation of various familial and sporadic tumors. In addition, the genetic loci for a number of familial tumor syndromes have been mapped by linkage analysis. To explore the possible role of tumor suppressor genes in endocrine tumors, we tested 41 pheochromocytomas (34 sporadic and 7 familial) and 11 medullary thyroid cancers (MTC) (10 sporadic and 1 familial) for LOH near a variety of potentially important genetic loci: (a) the multiple endocrine neoplasia type 2A (MEN 2A) locus on chromosome 10; (b) the von Hippel-Lindau locus on 3p; and (c) the p53 and neurofibromatosis 1 loci on 17. We also examined chromosomes 1p and 22q because previous studies in a small number of pheochromocytomas and MTCs suggested LOH in these regions. Background rates for LOH were assessed using several "random" probes. Finally, we examined a number of clinical and histologic characteristics of these tumors for possible correlations with specific genetic alterations. LOH in the region of the MEN 2A locus was uncommon (0% for MTCs, 5% for pheochromocytomas). However, we found significant allelic losses in pheochromocytomas on chromosomes 1p (42%), 3p (16%), 17p (24%), and 22q (31%). We also noted a correlation between LOH on 1p and urinary excretion of metanephrine by these patients (P = 0.02). LOH on 1p, 3p, and 17p also appeared to be associated with increased tumor volume. Analysis of the smaller number of MTCs demonstrated allelic losses on chromosomes 1p and 22q. Our results suggest that tumor formation and/or progression in pheochromocytomas and MTCs involves multiple genes, analogous with the model proposed for colon carcinoma.
 ...
PMID:Loss of heterozygosity suggests multiple genetic alterations in pheochromocytomas and medullary thyroid carcinomas. 202 40

Medullary thyroid carcinoma (MTC) accounts for 5-10% of thyroid malignancies and occurs in either a sporadic or a familial form. The familial form is inherited in an autosomal dominant pattern, and expressed clinically as multiple endocrine neoplasia (MEN), types IIa and IIb, or as familial MTC alone. This neoplasm is derived from the parafollicular or C-cells, and has the ability to secrete a variety of polypeptide hormones including calcitonin, which serves as a tumor marker for the presence of MTC. The development of a calcitonin radioimmunoassay and the screening of patients at risk for the familial forms of MTC allows the diagnosis of the neoplasm in an occult stage when total thyroidectomy results in virtually 100% cure. We will present our experience with the diagnosis, treatment, and postoperative follow-up of our patients with this interesting neoplasm.
 ...
PMID:Medullary carcinoma of the thyroid: current diagnosis and management. 203 46


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