PMID- 31274185
OWN - NLM
STAT- MEDLINE
DCOM- 20200708
LR  - 20200708
IS  - 2299-8306 (Electronic)
IS  - 0423-104X (Linking)
VI  - 70
IP  - 5
DP  - 2019
TI  - Multiple endocrine neoplasia type 1 in Poland: a two-centre experience.
PG  - 385-391
LID - 10.5603/EP.a2019.0031 [doi]
AB  - INTRODUCTION: Multiple endocrine neoplasia type 1 (MEN1) has been causing 
      problems for clinicians since it was first described in 1954 by Wermer. Not only 
      its rarity, but also its variable clinical manifestations and lack of 
      genotype-phenotype correlation make it hard to establish evidence-based 
      guidelines for the management of this syndrome. Nationwide registers and 
      population-based research are the best means to improve knowledge about this rare 
      disease. As yet, there is no example of such research in the Polish population of 
      MEN1 patients. MATERIAL AND METHODS: We performed a retrospective analysis of 
      clinical and genetic data of patients diagnosed with MEN1 syndrome and 
      followed-up in two polish referral centres in the years 1994-2018. RESULTS: We 
      analysed 79 patients, of whom the majority were women. The mean age of the 
      patient population was 43 years, mean age at MEN1 diagnosis was 37.95 years, and 
      mean interval from initial symptoms to MEN1 diagnosis was 6.93 years. Primary 
      hyperparathyroidism (PHP), gastroenteropancreatic neuroendocrine tumour 
      (GEP-NET), and pituitary adenoma (PA) developed in 90%, 52%, and 47% of patients, 
      respectively. The dominance of insulinoma with low prevalence of gastrinoma is 
      the most vivid difference, when compared to previously described populations. 
      Moreover, we found 3.5-fold higher risk of developing a pituitary tumour in 
      patients with a frameshift mutation with the STOP codon of the MEN1 gene. 
      CONCLUSIONS: The Polish population of patients with MEN1 is different than 
      previously described European and Asian populations, primarily in prevalence of 
      functional NETs. A frameshift mutation with the STOP codon of the MEN1 gene 
      significantly increases the risk of PA. Further studies with a larger cohort of 
      patients are needed to fully describe the Polish population and improve diagnosis 
      and management of the syndrome.
FAU - Soczomski, Przemyslaw
AU  - Soczomski P
AUID- ORCID: 0000-0003-0645-1040
AD  - Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie 
      Institute - Oncology Centre Gliwice Branch, Gliwice, Poland. przemsocz@gmail.com.
FAU - Jurecka-Lubieniecka, Beata
AU  - Jurecka-Lubieniecka B
AD  - Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie 
      Institute - Oncology Centre Gliwice Branch, Gliwice, Poland.
FAU - Rogozik, Natalia
AU  - Rogozik N
AD  - Department of Internal Diseases and Endocrinology, Medical University of Warsaw, 
      Warsaw, Poland.
FAU - Tukiendorf, Andrzej
AU  - Tukiendorf A
AD  - Department of Public Health, Wroclaw Medical University, Wroclaw, Poland.
FAU - Jarzab, Barbara
AU  - Jarzab B
AD  - Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie 
      Institute - Oncology Centre Gliwice Branch, Gliwice, Poland.
FAU - Bednarczuk, Tomasz
AU  - Bednarczuk T
AD  - Department of Internal Diseases and Endocrinology, Medical University of Warsaw, 
      Warsaw, Poland.
LA  - eng
PT  - Journal Article
DEP - 20190705
PL  - Poland
TA  - Endokrynol Pol
JT  - Endokrynologia Polska
JID - 0370674
RN  - Gastro-enteropancreatic neuroendocrine tumor
SB  - IM
MH  - Adult
MH  - Female
MH  - Humans
MH  - Hyperparathyroidism, Primary/genetics
MH  - Intestinal Neoplasms/genetics
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/complications/*diagnosis/*genetics
MH  - Neuroendocrine Tumors/genetics
MH  - Pancreatic Neoplasms/genetics
MH  - Phenotype
MH  - Pituitary Neoplasms/genetics
MH  - Retrospective Studies
MH  - Risk Factors
MH  - Stomach Neoplasms/genetics
OTO - NOTNLM
OT  - MEN1
OT  - Polish population
OT  - genotype-phenotype correlation
OT  - multiple endocrine neoplasia type 1
EDAT- 2019/07/06 06:00
MHDA- 2020/07/09 06:00
CRDT- 2019/07/06 06:00
PHST- 2019/03/25 00:00 [received]
PHST- 2019/05/16 00:00 [accepted]
PHST- 2019/07/06 06:00 [pubmed]
PHST- 2020/07/09 06:00 [medline]
PHST- 2019/07/06 06:00 [entrez]
AID - VM/OJS/J/63723 [pii]
AID - 10.5603/EP.a2019.0031 [doi]
PST - ppublish
SO  - Endokrynol Pol. 2019;70(5):385-391. doi: 10.5603/EP.a2019.0031. Epub 2019 Jul 5.