PMID- 33249439
OWN - NLM
STAT- MEDLINE
DCOM- 20220425
LR  - 20220425
IS  - 1945-7189 (Electronic)
IS  - 0163-769X (Print)
IS  - 0163-769X (Linking)
VI  - 42
IP  - 2
DP  - 2021 Mar 15
TI  - Multiple Endocrine Neoplasia Type 1: Latest Insights.
PG  - 133-170
LID - 10.1210/endrev/bnaa031 [doi]
AB  - Multiple endocrine neoplasia type 1 (MEN1), a rare tumor syndrome that is 
      inherited in an autosomal dominant pattern, is continuing to raise great interest 
      for endocrinology, gastroenterology, surgery, radiology, genetics, and molecular 
      biology specialists. There have been 2 major clinical practice guidance papers 
      published in the past 2 decades, with the most recent published 8 years ago. 
      Since then, several new insights on the basic biology and clinical features of 
      MEN1 have appeared in the literature, and those data are discussed in this 
      review. The genetic and molecular interactions of the MEN1-encoded protein menin 
      with transcription factors and chromatin-modifying proteins in cell signaling 
      pathways mediated by transforming growth factor beta/bone morphogenetic protein, a 
      few nuclear receptors, Wnt/beta-catenin, and Hedgehog, and preclinical studies in 
      mouse models have facilitated the understanding of the pathogenesis of 
      MEN1-associated tumors and potential pharmacological interventions. The 
      advancements in genetic diagnosis have offered a chance to recognize MEN1-related 
      conditions in germline MEN1 mutation-negative patients. There is rapidly 
      accumulating knowledge about clinical presentation in children, adolescents, and 
      pregnancy that is translatable into the management of these very fragile 
      patients. The discoveries about the genetic and molecular signatures of sporadic 
      neuroendocrine tumors support the development of clinical trials with novel 
      targeted therapies, along with advancements in diagnostic tools and surgical 
      approaches. Finally, quality of life studies in patients affected by MEN1 and 
      related conditions represent an effort necessary to develop a pharmacoeconomic 
      interpretation of the problem. Because advances are being made both broadly and 
      in focused areas, this timely review presents and discusses those studies 
      collectively.
CI  - (c) The Author(s) 2020. Published by Oxford University Press on behalf of the 
      Endocrine Society. All rights reserved. For permissions, please e-mail: 
      journals.permissions@oup.com.
FAU - Brandi, Maria Luisa
AU  - Brandi ML
AD  - University of Florence, Florence, Italy.
FAU - Agarwal, Sunita K
AU  - Agarwal SK
AD  - National Institutes of Health, Bethesda, MD, USA.
FAU - Perrier, Nancy D
AU  - Perrier ND
AD  - The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
FAU - Lines, Kate E
AU  - Lines KE
AD  - University of Oxford, Oxford, UK.
FAU - Valk, Gerlof D
AU  - Valk GD
AD  - University Medical Center Utrecht, CX Utrecht, the Netherlands.
FAU - Thakker, Rajesh V
AU  - Thakker RV
AD  - University of Oxford, Oxford, UK.
LA  - eng
GR  - WT_/Wellcome Trust/United Kingdom
GR  - DH_/Department of Health/United Kingdom
PT  - Journal Article
PT  - Research Support, N.I.H., Intramural
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - Endocr Rev
JT  - Endocrine reviews
JID - 8006258
SB  - IM
MH  - Adolescent
MH  - Animals
MH  - Germ-Line Mutation
MH  - Humans
MH  - Mice
MH  - *Multiple Endocrine Neoplasia Type 1/genetics/metabolism/pathology
MH  - *Neuroendocrine Tumors/diagnosis/genetics/therapy
MH  - Quality of Life
MH  - Signal Transduction
PMC - PMC7958143
OTO - NOTNLM
OT  - MEN1
OT  - epigenetics
OT  - menin
OT  - mouse models
OT  - mutation-negative
OT  - neuroendocrine tumors
OT  - pharmacological therapies
OT  - phenocopy
OT  - quality of life
OT  - surgical approaches
EDAT- 2020/11/30 06:00
MHDA- 2022/04/26 06:00
PMCR- 2021/11/28
CRDT- 2020/11/29 20:35
PHST- 2020/07/14 00:00 [received]
PHST- 2020/11/30 06:00 [pubmed]
PHST- 2022/04/26 06:00 [medline]
PHST- 2020/11/29 20:35 [entrez]
PHST- 2021/11/28 00:00 [pmc-release]
AID - 6009070 [pii]
AID - bnaa031 [pii]
AID - 10.1210/endrev/bnaa031 [doi]
PST - ppublish
SO  - Endocr Rev. 2021 Mar 15;42(2):133-170. doi: 10.1210/endrev/bnaa031.