Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P43146 (tumour suppressor)
 5,935 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The last several years have seen a significant increase in our understanding of the molecular and biochemical changes associated with pituitary tumour initiation and progression. The combined data, from several groups, now allow a tentative map to be drawn showing that reduction to hemizygosity at several chromosomal loci (10q, 11q13 and 13q) is associated with the transition to the invasive phenotype, while loss on chromosome 9p and methylation of the tumour suppressor gene p16 appear to occur early in pituitary tumorigenesis. Changes in the expression/status of several genes and/or proteins including p53, the cAMP response element-binding factor (CREB), growth hormone-releasing hormone (GHRH), nm23, p16 and p27 have also been identified along this multi-step pathway. Prospective studies will determine whether these markers are truly predictive of subsequent tumour behaviour and can be used to aid clinical management in a manner not possible when current histological criteria are used.
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PMID:Molecular genetics of pituitary tumours. 1840 30

Novel genetic findings allow to more reliably elucidate the aetiology and pathogenesis of overgrowth syndromes in children and in adults. The relatively prevalent overgrowth syndromes in foetuses and neonates include Beckwith-Wiedemann (BWS) and Sotos syndromes; in addition, several rare conditions may occur e.g. Simpson-Golabi-Behmel and Weaver syndromes. These syndromes are not connected with overproduction of growth hormone. Their carriers are at risk of hypoglycaemia (in BWS), of congenital malformations and of childhood tumours. Targeted oncologic screening may improve the outcomes. Despite rapid growth even postnatally, the final height is mostly normal. In childhood and adolescence, the increased growth velocity results from hormonal overproduction - of precocious production of sexual hormones, hyperthyroidism, or of growth hormone overproduction due to pituitary adenoma that may lead to gigantism or acrogigantism and may be familiar (familiar isolated pituitary adenoma; FIPA). In 15-25 % of affected families, FIPA is caused by autosomal dominantly inherited mutations of AIP gene encoding a tumour suppressor protein named AIP (aryl hydrocarbon receptor-interacting protein). X-linked acrogigantism (X-LAG) is due to GPR101 gene mutations or microduplications of Xq26 chromosomal region. GPR101 encodes G-protein coupled receptor with unknown ligand. X-LAG is associated with recurrent and highly-penetrant pituitary macroadenomas. Mutations of additional at least 10 genes may lead to pituitary tumour with growth hormone overproduction. Gigantism in adults results from untreated or insufficiently treated pituitary adenoma in childhood. Some of the well-known current or past giants were found to carry pathogenic genetic variants of GPR101 or AIP.
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PMID:[Overgrowth in children and in adults: novel clinical view, novel genes, novel phenotypes]. 2899 7