Preprint Review Version 1 This version is not peer-reviewed

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

Version 1 : Received: 11 July 2019 / Approved: 12 July 2019 / Online: 12 July 2019 (11:54:29 CEST)

How to cite: von Arx, C.; Capozzi, M.; López-Jiménez, E.; Ottaiano, A.; Tatangelo, F.; Di Mauro, A.; Nasti, G.; Tornesello, M.L.; Tafuto, S. Updates on the Role of Molecular Alterations and NOTCH Signaling in the Development of Neuroendocrine Neoplasms. Preprints 2019, 2019070168 (doi: 10.20944/preprints201907.0168.v1). von Arx, C.; Capozzi, M.; López-Jiménez, E.; Ottaiano, A.; Tatangelo, F.; Di Mauro, A.; Nasti, G.; Tornesello, M.L.; Tafuto, S. Updates on the Role of Molecular Alterations and NOTCH Signaling in the Development of Neuroendocrine Neoplasms. Preprints 2019, 2019070168 (doi: 10.20944/preprints201907.0168.v1).

Abstract

Neuroendocrine neoplasms (NENs) comprise a heterogeneous group of rare malignancies mainly originated from hormones 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 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 signaling 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 roles and the potential therapeutic implications of gene mutations and NOTCH signaling in NENs, a comprehensive analysis of genetic alterations, NOTCH expression patterns and their potential roles across all NEN subtypes is required.

Subject Areas

Neuroendocrine Neoplasms; NOTCH; cancer driven genes; mutational mechanism; germline mutations.; small cell lung carcinoma; pancreatic NET; small bowel NET; medullary thyroid carcinoma; malignant castration-resistant prostatic cells

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