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PedAM

Pediatric Disease Annotations & Medicines




Disease multiple endocrine neoplasia
Phenotype C0027662|multiple endocrine neoplasia
Sentences 70
PubMedID- 26161274 multiple endocrine neoplasia type 1 is an autosomal dominant disorder characterized by the presence of endocrine tumors in several organs, including parathyroid, gastroenteropancreatic tract, and pituitary [5].
PubMedID- 23730622 multiple endocrine neoplasia type 2 (men2, omim 171400), associated with pheos, medullary thyroid carcinoma, and other manifestations, is linked to gain-of-function mutations in the ret gene (mulligan et al., 1993; hofstra et al., 1994).
PubMedID- 21826256 For patients with a family history of mtc or multiple endocrine neoplasia 2a or 2b, prophylactic thyroidectomy is recommended as soon as possible, even in patients who are less than one-year-old [6].
PubMedID- 23756599 We have recently identified a multiple endocrine neoplasia syndrome occurring in a sprague–dawley-derived rat strain (named menx) characterized by the occurrence of spontaneous pas with complete penetrance.
PubMedID- 24832650 Mutations responsible for a number of familial cancer syndromes (beckwith-wiedemann syndrome, li-fraumeni syndrome, multiple endocrine neoplasia type 1) have also been shown to present as somatic mutations in sporadic acc.
PubMedID- 24959251 multiple endocrine neoplasia type 1 (men1) is an autosomal dominant cancer predisposition syndrome (1), caused by mutations in the men1 gene (2).
PubMedID- 22145140 Genetic analysis for familial syndromes like ret protooncogene for multiple endocrine neoplasia type 2 (men 2), vhl mutation for vhl(von hippel lindeau) and succinate dehydrogenase (sdh) mutations need to be looked for in all children with pheochromocytoma.
PubMedID- 22584708 The cosegregation of hirschsprung's disease and multiple endocrine neoplasia 2 is particularly interesting as it involves both “switch off” and “switch on” of the rearranged during transfection proto-oncogene in the same patient.
PubMedID- 20862373 This is different from the multiple endocrine neoplasia syndromes in which the primary tumorigenic gene mutations are inherited.
PubMedID- 24213229 Abbreviations: men-1 = multiple endocrine neoplasia type 1 with signs of pancreatic tumor; nf pnet = non-functioning pancreatic net; acth-prod pnet = acth producing pancreatic net giving rise to ectopic cushing’s syndrome; si-net = small intestinal net; caput = pancreatic head; corp = pancreatic body; cauda = pancreatic tail; liver × 10 = approximately 10 metastases in the liver; lgll = pathological lymph nodes; mes lgll = mesenteric metastatic lymph nodes; gastr = gastric tumor; adre = adrenal gland tumor; int = intestinal tumor; duod = duodenum; tp = true positive; tn = true negative; fp = false positive; fn = false negative.
PubMedID- 25628771 multiple endocrine neoplasia type 2 (men2) is an autosomal dominant inherited endocrine malignancy syndrome, with an occurrence of approximately 1 in 30 000; men2 is due to germline mutations in the rearranged during transfection (ret) proto-oncogene (omim: 164761) [1,2], which includes the following three subtypes: men2a (omim: 171400); familial medullary thyroid cancer (fmtc; omim: 155240); and men2b (omim: 162300) [3].
PubMedID- 23418495 Patients with genetically confirmed multiple endocrine neoplasia type 1 (men-1 syndrom) or type 2a (men-2a syndrome) based on verified mutations in the meni gene or ret gene, respectively, were excluded.
PubMedID- 22584709 multiple endocrine neoplasia type 2 (men2) is an autosomal-dominant hereditary cancer syndrome caused by missense mutations in the ret (rearranged during transfection) proto-oncogene, and these result in the gain-of-function of the encoding receptor tyrosine kinase (1).
PubMedID- 21843357 multiple endocrine neoplasia type 2a (men2a) or sipple syndrome is an autosomal dominant syndrome, first described by sipple [1] and later characterized in multiple kindreds by schimke [2], caused by misense mutations in the ret protooncogene [3,4], a tyrosine kinase receptor.
PubMedID- 21540209 For example, the multiple endocrine neoplasia type 2 (men 2), an inherited cancer syndrome characterized by medullary thyroid carcinoma (mtc) and pheochromocytoma (pc), was caused by germline mutations in the exon region, encoding one of three specific cysteine residues in the extracellular domain of the ret protein.
PubMedID- 22359510 multiple endocrine neoplasia (men) type 2 is characterized by thyroid cancer, variable penetrance of tumors or hyperplasia in other endocrine organs and mutations in ret, the receptor tyrosine kinase proto-oncogene “rearranged during transfection” [1], [2].
PubMedID- 23754889 A 23-year-old female patient with no family history of multiple endocrine neoplasia (men) syndrome, familial mtc, or sporadic mtc was diagnosed with spontaneous metastatic mtc in march, 1993.
PubMedID- 23236420 multiple endocrine neoplasia type 2 (men2) is composed of three clinical subtypes, multiple endocrine neoplasia type 2a (men2a), familial medullary thyroid carcinoma, and multiple endocrine neoplasia type 2b, all of which are associated with germline mutations in the ret proto-oncogene.
PubMedID- 23869313 multiple endocrine neoplasia-1 (men1) is an autosomal dominant syndrome described for the first time in 1954 by moldawers and colleagues and wermer separately.
PubMedID- 25191209 multiple endocrine neoplasia type 2a (men 2a) or sipple's syndrome, is a hereditary familial syndrome consisting of pheocromocytoma (pheo) in 50% of cases, medullary thyroid carcinoma (mtc) in 90-100% and primary hyperparathyroidism (phpt) in 20-30%.
PubMedID- 20842232 multiple endocrine neoplasia 1 is a syndrome resulting from mutation in the men1 gene located in the chromosomal region 11q13.
PubMedID- 22615588 Men1, classified as a gate keeper tumor suppressor gene is responsible for multiple endocrine neoplasia type1 (2) and is widely observed in non-endocrine as well as endocrine and exocrine tissues (3, 4).
PubMedID- 21897551 There was no evidence of associated multiple endocrine neoplasia, which is known to occur in about 4% of patients.
PubMedID- 20063095 multiple endocrine neoplasia type 2 (men 2) syndrome is a rare autosomal inherited complex of endocrine tumors caused by a mutation in the rearranged during transfection (ret) proto-oncogene located on chromosome 10.
PubMedID- 22185228 Ophthalmological and oral manifestations of multiple endocrine neoplasia 2b, as in the case of our patient, are rare presentations of the disease; unfortunately in the case of our patient his condition had not been noted and acted upon until he presented to our department.
PubMedID- 21369528 multiple endocrine neoplasia (men1) is characterized by the presence of tumours related to two or more endocrine glands in the same patient.
PubMedID- 23417499 Ept can also be part of type i multiple endocrine neoplasia (men-i) syndrome, in which multiple pancreatic tumours are almost always found.
PubMedID- 24353437 Hypercalcemia may also be part of a hereditary syndrome (multiple endocrine neoplasia [men1] or multiple endocrine neoplasia type 2a [men2a]) particularly when identified in children or young adults.2,3 parathyroid lesions are routinely identified with 99 mtc-sestamibi scintigraphy scans and often successfully treated with surgical resection.
PubMedID- 22992277 multiple endocrine neoplasia type 2 (men 2) is an autosomal dominant hereditary cancer syndrome with a prevalence of about 1 in 30,000 [1].
PubMedID- 23093970 multiple endocrine neoplasia type 2 (men2) is a rare familial syndrome caused by mutations in the ret protooncogene.
PubMedID- 24379037 However, contrarily to recommendations for other syndromes with thyroid cancer predisposition such as multiple endocrine neoplasia syndromes, thyroidectomy is not employed in brrs patients without nodules (18).
PubMedID- 26444007 Mucosal neuromas are highly associated with multiple endocrine neoplasia type 2b (men-2b), which occurs in patients with germline mutation of ret genes [11].
PubMedID- 26229531 Patients with the multiple endocrine neoplasia type 1 (men1) syndrome carry a heterozygous germline inactivating mutation in men1 that predisposes to tumors of multiple endocrine and nonendocrine tissues (omim id 131100 and 613733) [1–3].
PubMedID- 24531709 One of such examples is the cancer syndrome multiple endocrine neoplasia type 1 (men1) 1, 2. individuals with germline mutations of the men1 gene are predisposed to develop hyperplasia and tumors in the endocrine pancreas, anterior pituitary and parathyroid.
PubMedID- 24281099 multiple endocrine neoplasia type 2a (men 2a) was assigned to chromosome 10 by linkage analysis in 1987, when the location of the ret gene was still unknown [52].
PubMedID- 25545711 The multiple endocrine neoplasia type 1 syndrome (men1) is a rare autosomal dominant hereditary cancer syndrome characterized by the development of endocrine tumors in different sites.
PubMedID- 22584707 We will briefly review hirschsprung disease (hscr), multiple endocrine neoplasia type 2 (men2), and the co-segregation of these conditions in the few families that have been studied to date.
PubMedID- 22761894 multiple endocrine neoplasia type 1 (men1) syndrome is a rare complex tumor-predisposing disorder inherited in an autosomal dominant manner [12].
PubMedID- 24826336 As a result, once a diagnosis of pheochromocytoma is made, it is important to rule out any evidence of hereditary syndromes like multiple endocrine neoplasia type 2, neurofibromatosis type 1, and von hippel-landau syndrome in the patient.
PubMedID- 23170141 For example, patients with multiple endocrine neoplasia (men) typically have p-nets in 36% to 81% of patients.
PubMedID- 20351961 A 32-year-old saudi male patient who is a known case of multiple endocrine neoplasia type 1 (men1) status post parathyroidectomy, distal panreatectomy and spleenectomy in 2006 was found, on ct screening, to have extra luminal midesophageal mass about five cm in greatest dimension at the level of the carina, compatible with leiomyoma [figure 1].
PubMedID- 26343727 multiple endocrine neoplasia type 1 (men-1 syndrome), a hereditary condition associated with tumors of the endocrine (hormone producing) glands, and the tumor suppressor gene men1 is frequently mutated in this disease.
PubMedID- 22584710 multiple endocrine neoplasia type 2 has been a model in clinical cancer genetics, demonstrating how knowledge of the genetic basis can shape the diagnosis and treatment of the disease.
PubMedID- 22007213 Five patients with a family history of multiple endocrine neoplasia (men) were excluded, giving a total of 45 patients evaluated in the present study.
PubMedID- 24499519 It has similarities with mccune-albright syndrome, multiple endocrine neoplasia and certain kinds of hamartomas, especially peutz-jeghers in terms of the mucosal lentigines[6].
PubMedID- 23776892 To screen high risk patients for thyroid malignancy like patients with history of familial thyroid cancer, multiple endocrine neoplasia (men) type ii and irradiated neck in childhood.
PubMedID- 23304085 Ten to 15% of all pnets are part of familial syndromes such as multiple endocrine neoplasia type 1, von hippel-lindau, neurofibromatosis and tuberous sclerosis [3], which will not be reviewed further in this paper.
PubMedID- 24251161 Pht was accompanied with multiple endocrine neoplasia-1 in one patient and pregnancy in another case.
PubMedID- 22844555 multiple endocrine neoplasia (men) is an autosomal dominant inherited disease presenting with tumorous lesions, mainly in various endocrine organs.
PubMedID- 22087368 Most adrenal tumors are sporadic and unilateral, but 2% to 6% of adrenal tumors are bilateral and associated with li-fraumeni syndrome, type i multiple endocrine neoplasia, beckwith-wiedemann syndrome, and carney complex, principally in children [1-4].

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