PMID- 37761922
OWN - NLM
STAT- MEDLINE
DCOM- 20231004
LR  - 20231005
IS  - 2073-4425 (Electronic)
IS  - 2073-4425 (Linking)
VI  - 14
IP  - 9
DP  - 2023 Sep 10
TI  - Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in 
      Patients with Neuroendocrine Tumors.
LID - 10.3390/genes14091782 [doi]
LID - 1782
AB  - The aim of this study is to evaluate the predictive role of specific clinical 
      factors for the diagnosis of Multiple Endocrine Neoplasia type-1 (MEN1) and 
      type-4 (MEN4) in patients with an initial diagnosis of gastrointestinal, 
      bronchial, or thymic neuroendocrine tumor (NET). METHODS: Patients referred to 
      the NET Unit between June 2021 and December 2022 with a diagnosis of NET and at 
      least one clinical criterion of suspicion for MEN1 and MEN4 underwent molecular 
      analysis of the MEN1 and CDKN1B genes. Phenotypic criteria were: (1) age </= 40 
      years; (2) NET multifocality; (3) MEN1/4-associated manifestations other than 
      NETs; and (4) endocrine syndrome related to NETs or pituitary/adrenal tumors. 
      RESULTS: A total of 22 patients were studied. In 18 patients (81.8%), the 
      first-level genetic test was negative (Group A), while four patients (25%) were 
      positive for MEN1 (Group B). No patient was positive for MEN4. In Group A, 10 
      cases had only one clinical criterion, and three patients met three criteria. In 
      Group B, three patients had three criteria, and one met all criteria. CONCLUSION: 
      These preliminary data show that a diagnosis of NET in patients with a negative 
      family history is suggestive of MEN1 in the presence of >/=three positive 
      phenotypic criteria, including early age, multifocality, multiple MEN-associated 
      manifestations, and endocrine syndromes. This indication may allow optimization 
      of the diagnosis of MEN in patients with NET.
FAU - Faggiano, Antongiulio
AU  - Faggiano A
AUID- ORCID: 0000-0002-9324-3946
AD  - Endocrinology Unit, Sant'Andrea Hospital, ENETS Center of Excellence, 00189 Rome, 
      Italy.
AD  - Department of Clinical and Molecular Medicine, Sapienza University of Rome, 00189 
      Rome, Italy.
FAU - Fazzalari, Beatrice
AU  - Fazzalari B
AD  - Endocrinology Unit, Sant'Andrea Hospital, ENETS Center of Excellence, 00189 Rome, 
      Italy.
AD  - Department of Clinical and Molecular Medicine, Sapienza University of Rome, 00189 
      Rome, Italy.
FAU - Mikovic, Nevena
AU  - Mikovic N
AD  - Endocrinology Unit, Sant'Andrea Hospital, ENETS Center of Excellence, 00189 Rome, 
      Italy.
AD  - Department of Clinical and Molecular Medicine, Sapienza University of Rome, 00189 
      Rome, Italy.
FAU - Russo, Flaminia
AU  - Russo F
AD  - Endocrinology Unit, Sant'Andrea Hospital, ENETS Center of Excellence, 00189 Rome, 
      Italy.
AD  - Department of Clinical and Molecular Medicine, Sapienza University of Rome, 00189 
      Rome, Italy.
FAU - Zamponi, Virginia
AU  - Zamponi V
AD  - Endocrinology Unit, Sant'Andrea Hospital, ENETS Center of Excellence, 00189 Rome, 
      Italy.
AD  - Department of Clinical and Molecular Medicine, Sapienza University of Rome, 00189 
      Rome, Italy.
FAU - Mazzilli, Rossella
AU  - Mazzilli R
AD  - Endocrinology Unit, Sant'Andrea Hospital, ENETS Center of Excellence, 00189 Rome, 
      Italy.
AD  - Department of Clinical and Molecular Medicine, Sapienza University of Rome, 00189 
      Rome, Italy.
FAU - Guarnieri, Vito
AU  - Guarnieri V
AD  - Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 
      71013 Foggia, Italy.
FAU - Piane, Maria
AU  - Piane M
AUID- ORCID: 0000-0001-8569-247X
AD  - Department of Clinical and Molecular Medicine, Sapienza University of Rome, 00189 
      Rome, Italy.
AD  - UOD Medical Genetics and Advanced Cell Diagnostics, Sant'Andrea Hospital, 00189 
      Rome, Italy.
FAU - Visco, Vincenzo
AU  - Visco V
AUID- ORCID: 0000-0001-5067-3121
AD  - Department of Clinical and Molecular Medicine, Sapienza University of Rome, 00189 
      Rome, Italy.
AD  - UOD Medical Genetics and Advanced Cell Diagnostics, Sant'Andrea Hospital, 00189 
      Rome, Italy.
FAU - Petrucci, Simona
AU  - Petrucci S
AD  - Department of Clinical and Molecular Medicine, Sapienza University of Rome, 00189 
      Rome, Italy.
AD  - UOD Medical Genetics and Advanced Cell Diagnostics, Sant'Andrea Hospital, 00189 
      Rome, Italy.
LA  - eng
PT  - Journal Article
DEP - 20230910
PL  - Switzerland
TA  - Genes (Basel)
JT  - Genes
JID - 101551097
SB  - IM
MH  - Humans
MH  - Adult
MH  - *Multiple Endocrine Neoplasia Type 1/diagnosis/genetics
MH  - *Neuroendocrine Tumors/diagnosis/genetics/pathology
MH  - *Pituitary Neoplasms/genetics
MH  - Genetic Testing
MH  - Gastrointestinal Tract/pathology
PMC - PMC10531237
OTO - NOTNLM
OT  - genetic test
OT  - multiple endocrine neoplasia type 1
OT  - multiple endocrine neoplasia type 4
OT  - neuroendocrine tumors
OT  - phenocopies
OT  - predictive factors
COIS- The authors declare no conflict of interest.
EDAT- 2023/09/28 06:43
MHDA- 2023/10/04 06:43
PMCR- 2023/09/10
CRDT- 2023/09/28 01:15
PHST- 2023/07/20 00:00 [received]
PHST- 2023/09/03 00:00 [revised]
PHST- 2023/09/05 00:00 [accepted]
PHST- 2023/10/04 06:43 [medline]
PHST- 2023/09/28 06:43 [pubmed]
PHST- 2023/09/28 01:15 [entrez]
PHST- 2023/09/10 00:00 [pmc-release]
AID - genes14091782 [pii]
AID - genes-14-01782 [pii]
AID - 10.3390/genes14091782 [doi]
PST - epublish
SO  - Genes (Basel). 2023 Sep 10;14(9):1782. doi: 10.3390/genes14091782.