PMID- 36038743
OWN - NLM
STAT- MEDLINE
DCOM- 20230124
LR  - 20230202
IS  - 1720-8386 (Electronic)
IS  - 0391-4097 (Linking)
VI  - 46
IP  - 2
DP  - 2023 Feb
TI  - Neuroendocrine neoplasms in the context of inherited tumor syndromes: a 
      reappraisal focused on targeted therapies.
PG  - 213-234
LID - 10.1007/s40618-022-01905-4 [doi]
AB  - PURPOSE: Neuroendocrine neoplasms can occur as part of inherited disorders, 
      usually in the form of well-differentiated, slow-growing tumors (NET). The main 
      predisposing syndromes include: multiple endocrine neoplasias type 1 (MEN1), 
      associated with a large spectrum of gastroenteropancreatic and thoracic NETs, and 
      type 4 (MEN4), associated with a wide tumour spectrum similar to that of MEN1; 
      von Hippel-Lindau syndrome (VHL), tuberous sclerosis (TSC), and neurofibromatosis 
      1 (NF-1), associated with pancreatic NETs. In the present review, we propose a 
      reappraisal of the genetic basis and clinical features of gastroenteropancreatic 
      and thoracic NETs in the setting of inherited syndromes with a special focus on 
      molecularly targeted therapies for these lesions. METHODS: Literature search was 
      systematically performed through online databases, including MEDLINE (via 
      PubMed), and Scopus using multiple keywords' combinations up to June 2022. 
      RESULTS: Somatostatin analogues (SSAs) remain the mainstay of systemic treatment 
      for NETs, and radiolabelled SSAs can be used for peptide-receptor radionuclide 
      therapy for somatostatin receptor (SSTR)-positive NETs. Apart of these 
      SSTR-targeted therapies, other targeted agents have been approved for NETs: the 
      mTOR inhibitor everolimus for lung, gastroenteropatic and unknown origin NET, and 
      sunitinib, an antiangiogenic tyrosine kinase inhibitor, for pancreatic NET. Novel 
      targeted therapies with other antiangiogenic agents and immunotherapies have been 
      also under evaluation. CONCLUSIONS: Major advances in the understanding of 
      genetic and epigenetic mechanisms of NET development in the context of inherited 
      endocrine disorders have led to the recognition of molecular targetable 
      alterations, providing a rationale for the implementation of treatments and 
      development of novel targeted therapies.
CI  - (c) 2022. The Author(s), under exclusive licence to Italian Society of 
      Endocrinology (SIE).
FAU - Ruggeri, R M
AU  - Ruggeri RM
AUID- ORCID: 0000-0001-8899-684X
AD  - Unit of Endocrinology, Department of Clinical and Experimental Medicine, 
      University of Messina, AOU Policlinico "Gaetano Martino" University Hospital, 
      98125, Messina, Italy. rmruggeri@unime.it.
FAU - Benevento, E
AU  - Benevento E
AD  - Department of Clinical Medicine and Surgery, Endocrinology Unit, University 
      Federico II, Naples, Italy.
FAU - De Cicco, F
AU  - De Cicco F
AD  - SSD Endocrine Disease and Diabetology, ASL TO3, Pinerolo, TO, Italy.
FAU - Fazzalari, B
AU  - Fazzalari B
AD  - Endocrinology Unit, Department of Clinical and Molecular Medicine, Sant'Andrea 
      Hospital, ENETS Center of Excellence, Sapienza University of Rome, Rome, Italy.
FAU - Guadagno, E
AU  - Guadagno E
AD  - Department of Clinical Medicine and Surgery, Endocrinology Unit, University 
      Federico II, Naples, Italy.
FAU - Hasballa, I
AU  - Hasballa I
AD  - Endocrinology Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
FAU - Tarsitano, M G
AU  - Tarsitano MG
AD  - Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, 
      Italy.
FAU - Isidori, A M
AU  - Isidori AM
AD  - Gruppo NETTARE, Policlinico Umberto I, Universita Sapienza, Rome, Italy.
FAU - Colao, A
AU  - Colao A
AD  - Department of Clinical Medicine and Surgery, Endocrinology Unit, University 
      Federico II, Naples, Italy.
AD  - UNESCO Chair "Education for Health and Sustainable Development", Federico II 
      University, Naples, Italy.
FAU - Faggiano, A
AU  - Faggiano A
AD  - Endocrinology Unit, Department of Clinical and Molecular Medicine, Sant'Andrea 
      Hospital, ENETS Center of Excellence, Sapienza University of Rome, Rome, Italy.
CN  - NIKE Group
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20220830
PL  - Italy
TA  - J Endocrinol Invest
JT  - Journal of endocrinological investigation
JID - 7806594
RN  - 0 (Antineoplastic Agents)
RN  - 9HW64Q8G6G (Everolimus)
RN  - 51110-01-1 (Somatostatin)
SB  - IM
EIN - J Endocrinol Invest. 2022 Oct 7;:. PMID: 36205909
MH  - Humans
MH  - Syndrome
MH  - *Neuroendocrine Tumors/drug therapy/genetics
MH  - *Antineoplastic Agents/therapeutic use
MH  - *von Hippel-Lindau Disease/genetics/therapy
MH  - Everolimus
MH  - *Multiple Endocrine Neoplasia Type 1/complications
MH  - Somatostatin/therapeutic use
MH  - *Pancreatic Neoplasms/drug therapy/genetics
OTO - NOTNLM
OT  - MEN1
OT  - MEN4
OT  - Neuroendocrine neoplasms
OT  - Neurofibromatosis 1 (NF-1)
OT  - Targeted therapies
OT  - Tuberous sclerosis (TSC)
OT  - Von Hippel-Lindau (VHL) syndrome
FIR - Aini, I
IR  - Aini I
FIR - Albertelli, M
IR  - Albertelli M
FIR - Alessi, Y
IR  - Alessi Y
FIR - Altieri, B
IR  - Altieri B
FIR - Antonini, S
IR  - Antonini S
FIR - Barrea, L
IR  - Barrea L
FIR - Birtolo, F
IR  - Birtolo F
FIR - Campolo, F
IR  - Campolo F
FIR - Cannavale, G
IR  - Cannavale G
FIR - Cantone, C
IR  - Cantone C
FIR - Carra, S
IR  - Carra S
FIR - Centello, R
IR  - Centello R
FIR - Cozzolino, A
IR  - Cozzolino A
FIR - Molfetta, S
IR  - Molfetta S
FIR - Vito, V
IR  - Vito V
FIR - Fanciulli, G
IR  - Fanciulli G
FIR - Feola, T
IR  - Feola T
FIR - Ferrau, F
IR  - Ferrau F
FIR - Gay, S
IR  - Gay S
FIR - Giannetta, E
IR  - Giannetta E
FIR - Grillo, F
IR  - Grillo F
FIR - Grossrubatscher, E
IR  - Grossrubatscher E
FIR - Guarnotta, V
IR  - Guarnotta V
FIR - Salvia, A
IR  - Salvia A
FIR - Laffi, A
IR  - Laffi A
FIR - Lania, A
IR  - Lania A
FIR - Liccardi, A
IR  - Liccardi A
FIR - Malandrino, P
IR  - Malandrino P
FIR - Mazzilli, R
IR  - Mazzilli R
FIR - Messina, E
IR  - Messina E
FIR - Mikovic, N
IR  - Mikovic N
FIR - Minotta, R
IR  - Minotta R
FIR - Modica, R
IR  - Modica R
FIR - Muscogiuri, G
IR  - Muscogiuri G
FIR - Pandozzi, C
IR  - Pandozzi C
FIR - Pugliese, G
IR  - Pugliese G
FIR - Puliani, G
IR  - Puliani G
FIR - Ragni, A
IR  - Ragni A
FIR - Rubino, M
IR  - Rubino M
FIR - Russo, F
IR  - Russo F
FIR - Sesti, F
IR  - Sesti F
FIR - Verde, L
IR  - Verde L
FIR - Veresani, A
IR  - Veresani A
FIR - Vetrani, C
IR  - Vetrani C
FIR - Vitale, G
IR  - Vitale G
FIR - Zamponi, V
IR  - Zamponi V
FIR - Zanata, I
IR  - Zanata I
EDAT- 2022/08/30 06:00
MHDA- 2023/01/25 06:00
CRDT- 2022/08/29 23:28
PHST- 2022/07/30 00:00 [received]
PHST- 2022/08/16 00:00 [accepted]
PHST- 2022/08/30 06:00 [pubmed]
PHST- 2023/01/25 06:00 [medline]
PHST- 2022/08/29 23:28 [entrez]
AID - 10.1007/s40618-022-01905-4 [pii]
AID - 10.1007/s40618-022-01905-4 [doi]
PST - ppublish
SO  - J Endocrinol Invest. 2023 Feb;46(2):213-234. doi: 10.1007/s40618-022-01905-4. 
      Epub 2022 Aug 30.