PMID- 32847108
OWN - NLM
STAT- MEDLINE
DCOM- 20210402
LR  - 20210402
IS  - 2073-4425 (Electronic)
IS  - 2073-4425 (Linking)
VI  - 11
IP  - 9
DP  - 2020 Aug 24
TI  - Novel Germline c.105_107dupGCT MEN1 Mutation in a Family with Newly Diagnosed 
      Multiple Endocrine Neoplasia Type 1.
LID - 10.3390/genes11090986 [doi]
LID - 986
AB  - In multiple endocrine neoplasia type 1 (MEN1), the causative MEN1 gene mutations 
      lead to the reduced expression of menin, which is a tumor suppressor protein. In 
      this study, we present a case of a 16-year-old woman with severe primary 
      hyperparathyroidism and a non-functioning pituitary microadenoma. Genetic testing 
      demonstrated a novel germline heterozygote variant c.105_107dupGCT of MEN1, 
      leading to Leu duplication in position 37 of the menin polypeptide chain. As such 
      a mutation was not reported before as a causative one, confirmation of its 
      pathogenicity required showing the same mutation in a symptomatic first-degree 
      relative. An identical mutation was found in the patient's father, who was 
      further diagnosed with hyperparathyroidism and a pituitary microadenoma. We 
      observed the presence of the same MEN1-related tumors but an entirely different 
      symptom severity. To the best of our knowledge, this is the first report of MEN1 
      syndrome caused by the c.105_107dupGCT MEN1 mutation. This case report 
      demonstrates the importance of genetic evaluation towards MEN1. Genetic testing 
      for MEN1 mutations should be performed in all patients with MEN1-related tumors, 
      and in the young patients even with only one such tumor, despite the supposedly 
      negative family history.
FAU - Stasiak, Magdalena
AU  - Stasiak M
AUID- ORCID: 0000-0002-2910-7691
AD  - Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial 
      Hospital-Research Institute, 93-338 Lodz, Poland.
FAU - Dedecjus, Marek
AU  - Dedecjus M
AUID- ORCID: 0000-0003-3485-8219
AD  - Department of Endocrine Oncology and Nuclear Medicine, Maria Sklodowska-Curie 
      National Research Institute of Oncology (MSCNRIO), 02-781 Warsaw, Poland.
FAU - Zawadzka-Starczewska, Katarzyna
AU  - Zawadzka-Starczewska K
AD  - Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial 
      Hospital-Research Institute, 93-338 Lodz, Poland.
FAU - Adamska, Emilia
AU  - Adamska E
AD  - Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial 
      Hospital-Research Institute, 93-338 Lodz, Poland.
FAU - Tomaszewska, Monika
AU  - Tomaszewska M
AD  - Department of Pediatrics, Oncology, Hematology and Diabetology, Central Teaching 
      Hospital of the Medical University of Lodz, 91-738 Lodz, Poland.
FAU - Lewinski, Andrzej
AU  - Lewinski A
AUID- ORCID: 0000-0002-8748-3337
AD  - Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial 
      Hospital-Research Institute, 93-338 Lodz, Poland.
AD  - Department of Endocrinology and Metabolic Diseases, Medical University of Lodz, 
      93-338 Lodz, Poland.
LA  - eng
PT  - Case Reports
PT  - Research Support, Non-U.S. Gov't
DEP - 20200824
PL  - Switzerland
TA  - Genes (Basel)
JT  - Genes
JID - 101551097
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adolescent
MH  - Female
MH  - *Gene Duplication
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*diagnosis/*genetics
MH  - Pedigree
MH  - Proto-Oncogene Proteins/*genetics
PMC - PMC7565931
OTO - NOTNLM
OT  - MEN1 gene
OT  - menin
OT  - multiple endocrine neoplasia type 1
OT  - pituitary adenoma
OT  - primary hyperparathyroidism
COIS- The authors declare no conflict of interest.
EDAT- 2020/08/28 06:00
MHDA- 2021/04/07 06:00
PMCR- 2020/09/01
CRDT- 2020/08/28 06:00
PHST- 2020/06/13 00:00 [received]
PHST- 2020/07/22 00:00 [revised]
PHST- 2020/08/20 00:00 [accepted]
PHST- 2020/08/28 06:00 [entrez]
PHST- 2020/08/28 06:00 [pubmed]
PHST- 2021/04/07 06:00 [medline]
PHST- 2020/09/01 00:00 [pmc-release]
AID - genes11090986 [pii]
AID - genes-11-00986 [pii]
AID - 10.3390/genes11090986 [doi]
PST - epublish
SO  - Genes (Basel). 2020 Aug 24;11(9):986. doi: 10.3390/genes11090986.