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South Australian Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, Australia
Adelaide Medical School, University of Adelaide, Adelaide, Australia
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Garvan Institute of Medical Research, Sydney, NSW, Australia
St Vincent’s Clinical School, University of New South Wales, Sydney, NSW, Australia
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St Vincent’s Clinical School, University of New South Wales, Sydney, NSW, Australia
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Academy for Medical Education, Faculty of Medicine, the University of Queensland, Brisbane, Australia
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Garvan Institute of Medical Research, Sydney, NSW, Australia
St Vincent’s Clinical School, University of New South Wales, Sydney, NSW, Australia
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. 2018 ). In this review, we first expand on the classification of pituitary tumours, which is integral to understanding the genetic and molecular pathogenesis of PAs. We then discuss familial pituitary tumours which relate to heritable germline defects
Department of Medical Biotechnologies, University of Siena, Siena, Italy
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.13 <1% Early-onset pituitary blastomas (ACTH-secreting) AD, autosomal dominant; CNC, Carney complex; FIPA, familial isolated pituitary adenoma; GEP NET, gastroenteropancreatic neuroendocrine tumour; GPCR, G protein-coupled receptor; MEN1
Department of Endocrinology, Endocrinology Division, Bart's and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UK
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Introduction Familial pituitary adenomas can occur in three diseases: multiple endocrine neoplasia type 1 (MEN1, MIM# 131100), the rare Carney complex (CNC, MIM# 160980) and the recently described familial isolated pituitary adenoma (FIPA, MIM
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Introduction Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised, in man, by the combined occurrence of tumours of the parathyroids, pancreatic islets and anterior pituitary ( Thakker 2006 ). Some patients may
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Cell cycle dysregulation is one of the defining features of cancer. Cyclin-dependent kinase 4 (CDK4), together with its regulatory subunit cyclin D, governs cell cycle progression through the G1 phase. Cyclin-dependent kinase inhibitors, including p16(INK4A) (encoded by CDKN2A), in turn regulate CDK4. In particular, dysregulation of the p16/CDK4/cyclin D complex has been established in a variety of types of human tumours. Dominant activating mutations affecting codon 24 of the CDK4 gene (replacement of Arg24 by Cys or His) render CDK4 insensitive to p16(INK4) inhibition and are responsible for melanoma susceptibility in some kindreds. However, 'knock-in' mice homozygous for the CDK4(R24C) mutation were noted to develop multiple neoplasia, most commonly including endocrine tumours: pituitary adenomas, insulinomas and Leydig cell testicular tumours. We therefore speculated that sporadic human endocrine tumours might also harbour such mutations. The aim of the current study was to analyze the CDK4 gene for the two characterized activating mutations, R24C and R24H, in sporadic human pituitary adenomas, insulinomas and Leydig cell tumours. We used DNA extracted from 61 pituitary adenomas, and paired tumorous and neighboring normal genomic DNA extracted from 14 insulinoma and 6 Leydig cell tumour samples. Genomic DNA from patients with familial melanoma harbouring the R24C or the R24H mutations served as positive controls. All samples were subjected to PCR, mutation-specific restriction digests and/or sequencing. Both methodologies failed to detect mutations at these two sites in any of the sporadic endocrine tumours including pituitary adenomas, benign or malignant insulinomas or Leydig cell tumours, while the positive controls showed the expected heterozygote patterns. Protein expression of CDK4 was demonstrated by immunohistochemistry and Western blotting in pituitary and pancreatic samples. These data suggest that the changes in the regulatory 'hot-spot' on the CDK4 gene, causing various endocrine tumours in CDK4(R24C/R24C )mice, are not a major factor in sporadic pituitary, insulin beta-cell or Leydig cell tumorigenesis.
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neoplasias raising the possibility that they represent a tumour-initiating cell population. The elucidation of the mechanisms underlying pituitary stem cell (PSC) self-renewal, differentiation and programmed death may lead to a greater understanding of
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Introduction Pituitary adenomas are usually benign tumours of the anterior pituitary, which represent 15.5% of intracranial neoplasms ( Ostrom et al . 2015 ). They are frequently associated with severe comorbidities due to mass effect and
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); MEN type 2 (MEN2); MEN1-like syndrome, MEN4; hyperparathyroidism-jaw tumour syndrome (HPT-JT); disorders of the calcium-sensing receptor (CaSR) and familial forms of hypoparathyroidism ( Tables 3 and 4 ). Table 1 Methods resulting in induction of
Unidade de Suprarrenal, Instituto do Câncer de São Paulo ICESP, Département de Médecine, Disciplina de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil
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Unidade de Suprarrenal, Instituto do Câncer de São Paulo ICESP, Département de Médecine, Disciplina de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil
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adrenocortical tumours and novel mechanisms of inefficient steroidogenesis in familial ACTH-independent macronodular adrenal hyperplasia . Endocrine-Related Cancer 19 L19 – L23 . ( doi:10.1530/ERC-11-0210 ) Gagliardi L Schreiber AW Hahn CN Feng J
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destruction of the neurohypophyseal neurons and axons secondary to pituitary or hypothalamic tumors, infection, trauma, or surgical procedures. There are also rare congenital and familial forms of vasopressin deficiency. Missense and nonsense mutations in AVP
