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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease multiple endocrine neoplasia
Comorbidity C0027662|multiple endocrine neoplasia
Sentences 43
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- 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- 21691539 Familial cases (most commonly associated with the multiple endocrine neoplasia 2a and 2b syndromes, neurofibromatosis and von-hippel-lindau syndrome) are bilateral half the time and malignant in 36% of patients.5 as many as 20% of newly diagnosed pheochromocytomas are in the pediatric population, in whom the disease is more commonly associated with these inherited syndromes.6–8 extra-adrenal pheochromocytomas have a higher risk of malignancy than their adrenal counterparts (36%).5 while even “benign” pheochromocytoma is fatal if undiagnosed and untreated, it is potentially curable if diagnosed.
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- 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- 24959251 multiple endocrine neoplasia type 1 (men1) is an autosomal dominant cancer predisposition syndrome (1), caused by mutations in the men1 gene (2).
PubMedID- 21843357 multiple endocrine neoplasia 2a (men2a) is a rare autosomal dominant syndrome caused by missense mutations in the ret proto-oncogene associated with medullary thyroid cancer, pheochromocytoma and hyperparathyroidism.
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- 21369528 multiple endocrine neoplasia (men1) is characterized by the presence of tumours related to two or more endocrine glands in the same patient.
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- 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- 26191410 multiple endocrine neoplasia type 1 (men-1) is a rare autosomal-dominant disease characterized by the combined manifestations of tumors in the pancreas, parathyroid and pituitary glands.
PubMedID- 21124979 The multiple endocrine neoplasia type 1 tumor suppressor gene (men1) has been implicated in the control of apoptosis, dna repair or replication, and gene expression [1].
PubMedID- 22584711 Eight of 55 (14.5%) patients with multiple endocrine neoplasia type 2a had this variant whereas it was absent in multiple endocrine neoplasia type 2b, familial medullary thyroid carcinoma, sporadic medullary thyroid carcinoma, and sporadic pheochromocytoma groups, and its prevalence in controls was 1% (p<0.002 multiple endocrine neoplasia type 2a versus controls).
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- 23961501 multiple endocrine neoplasia 2a (men 2a) is a rare autosomal dominant inherited cancer syndrome occurring in 1:200,000 live births.
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- 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- 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- 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- 24251161 Pht was accompanied with multiple endocrine neoplasia-1 in one patient and pregnancy in another case.
PubMedID- 22584697 It is dedicated to the theme of multiple endocrine neoplasias (mens) types 1 and 2, and we believe, it is especially valuable because we have collected the views of several well-known specialists in this highly specific field from 12 different countries.
PubMedID- 21897551 There was no evidence of associated multiple endocrine neoplasia, which is known to occur in about 4% of patients.
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- 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- 25827640 A lymnaea homologue of the multiple endocrine neoplasia type 1 (men1) tumor suppressor gene that encodes for the transcription factor menin was previously shown to be required in the postsynaptic neuron for proper synapse formation35.
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- 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- 22754549 multiple endocrine neoplasia type 1 (men1) is an autosomal dominant familial endocrine neoplasm syndrome characterized by tumors in parathyroids, enteropancreatic endocrine tissues, and the anterior pituitary.
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- 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- 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- 20842232 multiple endocrine neoplasia 1 is a syndrome resulting from mutation in the men1 gene located in the chromosomal region 11q13.
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- 24658317 Concurrently, 4 patients with pnets had multiple endocrine neoplasia type 1 and 2 patients had von hippel-lindau disease in association with familial syndromes.
PubMedID- 22761894 multiple endocrine neoplasia type 1 (men1) syndrome is a rare complex tumor-predisposing disorder inherited in an autosomal dominant manner [12].
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- 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- 20862373 This is different from the multiple endocrine neoplasia syndromes in which the primary tumorigenic gene mutations are inherited.
PubMedID- 22996645 Recently, a drosophila model of multiple endocrine neoplasia type 2, driven by overexpression of ret kinase (dret), was used to powerfully demonstrate how in vivo screening of polypharmacological kinase inhibitors could be combined with genetic analysis to fine-tune compounds for increased chemical efficacy and reduced toxicity (dar et al., 2012).
PubMedID- 23569534 multiple endocrine neoplasia type 1 (men1), also called wermer syndrome, is an autosomal-dominant disorder caused by a mutation in the menin gene on chromosome 11q13 [1].
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.

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