PMID- 28733468
OWN - NLM
STAT- MEDLINE
DCOM- 20180508
LR  - 20180725
IS  - 1479-6821 (Electronic)
IS  - 1351-0088 (Linking)
VI  - 24
IP  - 10
DP  - 2017 Oct
TI  - Management impact: effects on quality of life and prognosis in MEN1.
PG  - T227-T242
LID - 10.1530/ERC-17-0203 [doi]
AB  - Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant endocrine 
      tumor syndrome, caused by inactivating mutations of the MEN1 tumor suppressor 
      gene at 11q13 locus, which predisposes to develop tumors in target neuroendocrine 
      tissues. As the positional cloning and identification of the causative gene in 
      1997, genetic diagnosis, by the sequencing-based research of gene mutations, has 
      become an important tool in the early and differential diagnosis of the disease. 
      Application of the genetic test, in MEN1 index cases and in first-degree 
      relatives of mutated patients, has been constantly increasing during the last two 
      decades, also thanks to the establishment of multidisciplinary referral centers 
      and specific genetic counseling, and thanks to the wide availability of high 
      throughput instruments for gene sequencing and gene mutation identification. The 
      MEN1 genetic test helps the specific diagnosis of probands, and allows the early 
      identification of asymptomatic carriers, strongly contributing, together with 
      progressions in tumor diagnostic techniques and in pharmacological and surgical 
      therapeutic approaches, to the reduction of morbidity and mortality associated 
      with the syndrome. International clinical guidelines for MEN1 have been drafted 
      by panels of specialists in the field, with the main goal to improve the 
      management of the disease and grant patients a better quality of life. Here, we 
      review main recommendations and suggestions derived by the last published general 
      guidelines in 2012, and by most recent published studies about MEN1 syndrome 
      diagnosis, clinical management, therapeutic approaches and patients' quality of 
      life.
CI  - (c) 2017 Society for Endocrinology.
FAU - Marini, Francesca
AU  - Marini F
AD  - Department of Surgery and Translational MedicineUniversity of Florence, Viale 
      Pieraccini 6, Florence, Italy.
FAU - Giusti, Francesca
AU  - Giusti F
AD  - Department of Surgery and Translational MedicineUniversity of Florence, Largo 
      Palagi 1, Florence, Italy.
FAU - Tonelli, Francesco
AU  - Tonelli F
AD  - Department of Surgery and Translational MedicineUniversity of Florence, Largo 
      Palagi 1, Florence, Italy.
FAU - Brandi, Maria Luisa
AU  - Brandi ML
AD  - Department of Surgery and Translational MedicineUniversity of Florence, Largo 
      Palagi 1, Florence, Italy marialuisa.brandi@unifi.it.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20170721
PL  - England
TA  - Endocr Relat Cancer
JT  - Endocrine-related cancer
JID - 9436481
SB  - IM
MH  - Humans
MH  - Multiple Endocrine Neoplasia Type 1/pathology/*psychology
MH  - Mutation
MH  - Neuroendocrine Tumors/pathology/*psychology
MH  - Prognosis
OTO - NOTNLM
OT  - MEN1 gene
OT  - clinical management
OT  - international MEN1 guidelines
OT  - multiple endocrine neoplasia type 1 (MEN1)
EDAT- 2017/07/25 06:00
MHDA- 2018/05/09 06:00
CRDT- 2017/07/23 06:00
PHST- 2017/07/12 00:00 [received]
PHST- 2017/07/21 00:00 [accepted]
PHST- 2017/07/25 06:00 [pubmed]
PHST- 2018/05/09 06:00 [medline]
PHST- 2017/07/23 06:00 [entrez]
AID - ERC-17-0203 [pii]
AID - 10.1530/ERC-17-0203 [doi]
PST - ppublish
SO  - Endocr Relat Cancer. 2017 Oct;24(10):T227-T242. doi: 10.1530/ERC-17-0203. Epub 
      2017 Jul 21.