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Query: UMLS:C0406810 (NAME)
 13,345 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pituitary adenomas can occur in a familial context, or they can be isolated cases, sometimes due to a predisposing syndrome. In multiple endocrine neoplasia type 1, they often associate with a mutation of the menin gene, a tumor-suppressing gene. A new germinal mutation predisposing to the development of multiple endocrine neoplasias has recently been identified in MENI-negative subjects on the gene CDKN1B encoding for p27(kip1)protein. Carney Complex syndrome--a rare disease--is in more than 60% of the cases linked to the inactivation mutation of a gene located on 17q22-24 that encodes the regulatory subunit 1 of protein kinase A, PRKARIA. Isolated familial pituitary adenomas represent 1.9 to 3.2% of the population of subjects presenting a pituitary adenoma. Low penetrance non-sense mutations, Q14X, IVS3-IG>A and R304X, in 11q12-11q13 region encoding AIP protein, (Aryl hydrocarbon receptor Interacting Protein), have been described by Vierimaa et al, in Finish patients with pituitary adenoma predispositions.
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PMID:[Familial pituitary adenomas: clinical and genetic aspects]. 1796 54

Familial pituitary adenomas occurr in the classical syndromes of MEN1 and Carney Complex as well as in Familial Isolated Pituitary Adenomas (FIPA), an autosomal dominant disease with incomplete penetrance. In some families and also rarely in sporadic tumours germline mutations of a gene located on chromosome 11q13 known as the aryl hydrocarbon receptor interacting protein have been found. This article discusses the AIP mutations in these groups and the different molecular interactions of AIP that may play a role in pituitary tumour formation.
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PMID:AIP gene and familial isolated pituitary adenomas. 2045 15

Multiple endocrine neoplasia type 1 (MEN1) and type 2 (MEN2) are major genetic disorders carrying a high risk of endocrine tumor development. The mutated genes were identified in 1993 (MEN2-RET) and 1997 (MEN1), enabling genetic testing and functional studies. Genetic analysis has led to new clinical and therapeutic strategies for MEN1/2 patients, and has improved our understanding of the pathways underlying the development of such tumors, which occur in an autosomal dominant manner and with high penetrance. The MEN1 gene encodes menin, a protein involved in many cell functions, such as transcription, genome stability, cell cycling and apoptosis. The MEN1 gene has 10 exons, and its exhaustive analysis in MEN1 patients helps guide their management. MEN2 is related to activating missense mutations in the RET protooncogene, which encodes a tyrosine kinase receptor (TKR). RET activation occurs upon autodimerization induced by the binding of specific ligands belonging to glial cell-derived neurotrophic factor-like family (GFL) proteins, regulated by coreceptors. The position of missense mutations--in the extracellular or intracellular TK domains--influences the aggressiveness of the most frequent malignancy, medullary thyroid carcinoma, establishing a genotype-phenotype correlation. We also briefly describe the genetic basis of three other inherited states predisposing individuals to endocrine tumors, namely Carney's syndrome, hyperparathyroidism type 2 (HRPT2) and familial isolated pituitary adenoma (FIPA), which are related to inactivating mutations in the PRKAR1-alpha, HRPT2 and AIP genes, respectively.
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PMID:[Multiple endocrine neoplasia: genetic aspects]. 2066 61

Introduction: This review explores insights provided by next-generation sequencing (NGS) of pituitary tumors and the clinical implications.Areas covered: Although syndromic forms account for just 5% of pituitary tumours, past Sanger sequencing studies pragmatically focused on them. These studies identified mutations in MEN1, CDKN1B, PRKAR1A, GNAS and SDHx causing Multiple Endocrine Neoplasia-1 (MEN1), MEN4, Carney Complex-1, McCune Albright Syndrome and 3P association syndromes, respectively. Furthermore, linkage analysis of single-nucleotide polymorphisms identified AIP mutations in 20% with familial isolated pituitary adenomas (FIPA). NGS has enabled further investigation of sporadic tumours. Thus, mutations of USP8 and CABLES1 were identified in corticotrophinomas, BRAF in papillary craniopharyngiomas and CTNNB1 in adamantinomatous craniopharyngiomas. NGS also revealed that pituitary tumours occur in the DICER1 syndrome, due to DICER1 mutations, and CDH23 mutations occur in FIPA. These discoveries revealed novel therapeutic targets and studies are underway of BRAF inhibitors for papillary craniopharyngiomas, and EGFR and USP8 inhibitors for corticotrophinomas.Expert opinion: It has become apparent that single-nucleotide variants and small insertion/deletion DNA mutations cannot explain all pituitary tumorigenesis. Integrated and improved analyses including whole-genome sequencing, copy number, and structural variation analyses, RNA sequencing and epigenomic analyses, with improved genomic technologies, are likely to further define the genomic landscape.
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PMID:Insights into pituitary tumorigenesis: from Sanger sequencing to next-generation sequencing and beyond. 3179 61