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Updates on the Role of Molecular Alterations and NOTCH Signalling in the Development of Neuroendocrine Neoplasms

Neuroendocrine neoplasms (NENs) comprise a heterogeneous group of rare malignancies, mainly originating from hormone-secreting cells, which are widespread in human tissues. The identification of mutations in ATRX/DAXX genes in sporadic NENs, as well as the high burden of mutations scattered througho...

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Autores principales: von Arx, Claudia, Capozzi, Monica, López-Jiménez, Elena, Ottaiano, Alessandro, Tatangelo, Fabiana, Di Mauro, Annabella, Nasti, Guglielmo, Tornesello, Maria Lina, Tafuto, Salvatore
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6780206/
https://www.ncbi.nlm.nih.gov/pubmed/31443481
http://dx.doi.org/10.3390/jcm8091277
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author von Arx, Claudia
Capozzi, Monica
López-Jiménez, Elena
Ottaiano, Alessandro
Tatangelo, Fabiana
Di Mauro, Annabella
Nasti, Guglielmo
Tornesello, Maria Lina
Tafuto, Salvatore
author_facet von Arx, Claudia
Capozzi, Monica
López-Jiménez, Elena
Ottaiano, Alessandro
Tatangelo, Fabiana
Di Mauro, Annabella
Nasti, Guglielmo
Tornesello, Maria Lina
Tafuto, Salvatore
author_sort von Arx, Claudia
collection PubMed
description Neuroendocrine neoplasms (NENs) comprise a heterogeneous group of rare malignancies, mainly originating from hormone-secreting cells, which are widespread in human tissues. The identification of mutations in ATRX/DAXX genes in sporadic NENs, as well as the high burden of mutations scattered throughout the multiple endocrine neoplasia type 1 (MEN-1) gene in both sporadic and inherited syndromes, provided new insights into the molecular biology of tumour development. Other molecular mechanisms, such as the NOTCH signalling pathway, have shown to play an important role in the pathogenesis of NENs. NOTCH receptors are expressed on neuroendocrine cells and generally act as tumour suppressor proteins, but in some contexts can function as oncogenes. The biological heterogeneity of NENs suggests that to fully understand the role and the potential therapeutic implications of gene mutations and NOTCH signalling in NENs, a comprehensive analysis of genetic alterations, NOTCH expression patterns and their potential role across all NEN subtypes is required.
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spelling pubmed-67802062019-10-30 Updates on the Role of Molecular Alterations and NOTCH Signalling in the Development of Neuroendocrine Neoplasms von Arx, Claudia Capozzi, Monica López-Jiménez, Elena Ottaiano, Alessandro Tatangelo, Fabiana Di Mauro, Annabella Nasti, Guglielmo Tornesello, Maria Lina Tafuto, Salvatore J Clin Med Review Neuroendocrine neoplasms (NENs) comprise a heterogeneous group of rare malignancies, mainly originating from hormone-secreting cells, which are widespread in human tissues. The identification of mutations in ATRX/DAXX genes in sporadic NENs, as well as the high burden of mutations scattered throughout the multiple endocrine neoplasia type 1 (MEN-1) gene in both sporadic and inherited syndromes, provided new insights into the molecular biology of tumour development. Other molecular mechanisms, such as the NOTCH signalling pathway, have shown to play an important role in the pathogenesis of NENs. NOTCH receptors are expressed on neuroendocrine cells and generally act as tumour suppressor proteins, but in some contexts can function as oncogenes. The biological heterogeneity of NENs suggests that to fully understand the role and the potential therapeutic implications of gene mutations and NOTCH signalling in NENs, a comprehensive analysis of genetic alterations, NOTCH expression patterns and their potential role across all NEN subtypes is required. MDPI 2019-08-22 /pmc/articles/PMC6780206/ /pubmed/31443481 http://dx.doi.org/10.3390/jcm8091277 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
von Arx, Claudia
Capozzi, Monica
López-Jiménez, Elena
Ottaiano, Alessandro
Tatangelo, Fabiana
Di Mauro, Annabella
Nasti, Guglielmo
Tornesello, Maria Lina
Tafuto, Salvatore
Updates on the Role of Molecular Alterations and NOTCH Signalling in the Development of Neuroendocrine Neoplasms
title Updates on the Role of Molecular Alterations and NOTCH Signalling in the Development of Neuroendocrine Neoplasms
title_full Updates on the Role of Molecular Alterations and NOTCH Signalling in the Development of Neuroendocrine Neoplasms
title_fullStr Updates on the Role of Molecular Alterations and NOTCH Signalling in the Development of Neuroendocrine Neoplasms
title_full_unstemmed Updates on the Role of Molecular Alterations and NOTCH Signalling in the Development of Neuroendocrine Neoplasms
title_short Updates on the Role of Molecular Alterations and NOTCH Signalling in the Development of Neuroendocrine Neoplasms
title_sort updates on the role of molecular alterations and notch signalling in the development of neuroendocrine neoplasms
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6780206/
https://www.ncbi.nlm.nih.gov/pubmed/31443481
http://dx.doi.org/10.3390/jcm8091277
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