It is now understood that specific somatic and germline mutations may lead to the development of the neuroendocrine tumours (NETs). NETs usually occur as sporadic isolated tumours, although they also may present as part of complex familial endocrine cancer syndromes, such as multiple endocrine neoplasia type 1 (MEN1) and type 2 (MEN2), Von Hippel-Lindau (VHL) and neurofibromatosis syndromes, tuberous sclerosis, Carney triad and dyad, Reed syndrome and polycythaemia-paraganglioma syndromes. Only in MEN2 syndrome is there a specific genotype-phenotype correlation, although in both sporadic and syndromic NETs some gene mutations are associated with specific clinico-pathological features and prognosis. There have been several advances in our understanding of the NETs leading to earlier detection and targeted therapeutic treatment, but given the poor prognosis associated with metastatic NETs, it will be necessary to find new biomarkers for the prediction of malignant potential and to find novel therapeutic targets for NETs.

Somatic and germline mutations in NETs: Implications for their diagnosis and management / Minnetti, Marianna; Grossman, Ashley. - In: BAILLIERE'S BEST PRACTICE & RESEARCH. CLINICAL ENDOCRINOLOGY & METABOLISM. - ISSN 1521-690X. - ELETTRONICO. - 30:1(2016), pp. 115-127. [10.1016/j.beem.2015.09.007]

Somatic and germline mutations in NETs: Implications for their diagnosis and management

Minnetti, Marianna;
2016

Abstract

It is now understood that specific somatic and germline mutations may lead to the development of the neuroendocrine tumours (NETs). NETs usually occur as sporadic isolated tumours, although they also may present as part of complex familial endocrine cancer syndromes, such as multiple endocrine neoplasia type 1 (MEN1) and type 2 (MEN2), Von Hippel-Lindau (VHL) and neurofibromatosis syndromes, tuberous sclerosis, Carney triad and dyad, Reed syndrome and polycythaemia-paraganglioma syndromes. Only in MEN2 syndrome is there a specific genotype-phenotype correlation, although in both sporadic and syndromic NETs some gene mutations are associated with specific clinico-pathological features and prognosis. There have been several advances in our understanding of the NETs leading to earlier detection and targeted therapeutic treatment, but given the poor prognosis associated with metastatic NETs, it will be necessary to find new biomarkers for the prediction of malignant potential and to find novel therapeutic targets for NETs.
2016
genetic; lung NETs; multiple endocrine neoplasia; mutation; neuroendocrine tumour; pancreatic NETs; paraganglioma/phaeocromocytoma; sporadic NETs; syndromic NETs; Genes, Neoplasm; Genetic Testing; Humans; Neuroendocrine Tumors; Germ-Line Mutation; Endocrinology, Diabetes and Metabolism; Endocrinology
01 Pubblicazione su rivista::01a Articolo in rivista
Somatic and germline mutations in NETs: Implications for their diagnosis and management / Minnetti, Marianna; Grossman, Ashley. - In: BAILLIERE'S BEST PRACTICE & RESEARCH. CLINICAL ENDOCRINOLOGY & METABOLISM. - ISSN 1521-690X. - ELETTRONICO. - 30:1(2016), pp. 115-127. [10.1016/j.beem.2015.09.007]
File allegati a questo prodotto
File Dimensione Formato  
Minnetti_germline-mutations_2016.pdf

solo gestori archivio

Tipologia: Versione editoriale (versione pubblicata con il layout dell'editore)
Licenza: Tutti i diritti riservati (All rights reserved)
Dimensione 329.3 kB
Formato Adobe PDF
329.3 kB Adobe PDF   Contatta l'autore

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1116705
Citazioni
  • ???jsp.display-item.citation.pmc??? 3
  • Scopus 15
  • ???jsp.display-item.citation.isi??? 8
social impact