The Genetics of Pituitary Adenomas

Tatsi, Christina; Stratakis, Constantine A.

doi:10.3390/jcm9010030

Cited by 51 publications

(38 citation statements)

References 151 publications

(176 reference statements)

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“…Further, genetic mutations associated with dysfunctional cAMP pathways also manifest as somatotroph adenomas at different ages. For example, familial isolated somatotroph adenomas associated with AIP mutations manifest at older ages, whereas somatotroph adenomas associated with GPR101, specifically mosaic microduplications of Xq26.3, manifest before 2 years of age (63). Although cAMP-associated mutations have not been identified in most sporadic somatotroph adenomas, several lines of evidence support the presence of cAMP pathway hyperactivation.…”

Section: Discussionmentioning

confidence: 99%

DNA damage and growth hormone hypersecretion in pituitary somatotroph adenomas

Ben-Shlomo¹,

Deng²,

Ding³

et al. 2020

Journal of Clinical Investigation

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Section: Discussionmentioning

confidence: 99%

DNA damage and growth hormone hypersecretion in pituitary somatotroph adenomas

Ben-Shlomo¹,

Deng²,

Ding³

et al. 2020

Journal of Clinical Investigation

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“…Mutations in this gene were first identified in the multiple endocrine neoplasia type 1 syndrome [ 29 , 30 ]. Subsequent analysis revealed that MEN1 alterations are also found in a subset of pancreatic endocrine tumors [ 31 , 32 , 33 ] and pituitary adenomas [ 34 ], as well as several other cancers [ 35 , 36 ]. In addition to its independent function, MEN1 also interacts with the lysine methyltransferase KMT2A (previously MLL1), and this interaction contributes to the oncogenic properties of KMT2A [ 37 , 38 , 39 ].…”

Section: Introductionmentioning

confidence: 99%

Comprehensive Analysis of MEN1 Mutations and Their Role in Cancer

Nelakurti

Pappula

Rajasekaran

et al. 2020

Cancers

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MENIN is a scaffold protein encoded by the MEN1 gene that functions in multiple biological processes, including cell proliferation, migration, gene expression, and DNA damage repair. MEN1 is a tumor suppressor gene, and mutations that disrupts MEN1 function are common to many tumor types. Mutations within MEN1 may also be inherited (germline). Many of these inherited mutations are associated with a number of pathogenic syndromes of the parathyroid and pancreas, and some also predispose patients to hyperplasia. In this study, we cataloged the reported germline mutations from the ClinVar database and compared them with the somatic mutations detected in cancers from the Catalogue of Somatic Mutations in Cancer (COSMIC) database. We then used statistical software to determine the probability of mutations being pathogenic or driver. Our data show that many confirmed germline mutations do not appear in tumor samples. Thus, most mutations that disable MEN1 function in tumors are somatic in nature. Furthermore, of the germline mutations that do appear in tumors, only a fraction has the potential to be pathogenic or driver mutations.

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“…Carney complex was first fully characterized by J Aiden Carney in 1985 (Carney et al 1985), although earlier descriptions exist. Others have described the multiple heritable causes of primary hyperparathyroidism (Marx & Goltzman 2019), pituitary tumours (Tatsi & Stratakis 2019) and pheochromocytoma/ paraganglioma (Crona et al 2017). Beginning in the 1960s, there was the confluence of hormone discovery and characterization of clinical and genetic information that permitted the development of the current classification of MEN syndromes.…”

Section: Overviewmentioning

confidence: 99%

HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: History of the multiple endocrine neoplasia workshops and overview of MEN2019

Grubbs

Halperin

Waguespack

et al. 2020

Endocrine-Related Cancer

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The multiple endocrine neoplasia (MEN) workshops had their beginnings at Queen’s University in Kingston, Ontario in June 1984. This initial meeting brought clinicians and scientists together to focus on mapping the gene for multiple endocrine neoplasia type 2 (MEN2). These efforts culminated in the identification of the RET protooncogene as the causative gene a decade later. Over the next 35 years there were a total of 16 international workshops focused on the several MEN syndromes. Importantly, these workshops were instrumental in efforts to define the molecular basis for multiple endocrine neoplasia type 1 (MEN1), MEN2, von Hippel-Lindau disease (VHL), Carney Complex, hereditary pheochromocytoma and hyperparathyroidism. In this same spirit some 150 scientists and clinicians met at MD Anderson Cancer Center, 27–29 March 2019, for the 16th International Workshop on Multiple Endocrine Neoplasia (MEN2019). Appropriate to its location in a cancer centre, the workshop focused on important issues in the causation and treatment of malignant aspects of the MEN syndromes: medullary thyroid carcinoma, pancreatic neuroendocrine tumours, malignant pheochromocytoma and parathyroid carcinoma. Workshops at the meeting focused on a better understanding of how the identified molecular defects in these genetic syndromes lead to transformation, how to apply targeted kinase inhibitors and immunotherapy to treat these tumours and important clinical management issues. This issue of Endocrine-Related Cancer describes these discussions and recommendations.

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The Genetics of Pituitary Adenomas

Cited by 51 publications

References 151 publications

DNA damage and growth hormone hypersecretion in pituitary somatotroph adenomas

DNA damage and growth hormone hypersecretion in pituitary somatotroph adenomas

Comprehensive Analysis of MEN1 Mutations and Their Role in Cancer

HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: History of the multiple endocrine neoplasia workshops and overview of MEN2019

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