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Multiple endocrine neoplasia type 1 in Poland: a two-centre experience
Przemysław Soczomski1, Beata Jurecka-Lubieniecka2, Natalia Rogozik3
1Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie Institute - Oncology Centre Gliwice Branch, Gliwice, Poland. przemsocz@gmail.com.
Endokrynologia Polska
|July 6, 2019
Summary
This study reveals unique features in the Polish Multiple Endocrine Neoplasia type 1 (MEN1) population, particularly regarding neuroendocrine tumors. A specific gene mutation significantly increases pituitary tumor risk in these patients.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Multiple Endocrine Neoplasia type 1 (MEN1) presents diagnostic and management challenges due to rarity and variable presentation.
- Lack of genotype-phenotype correlation hinders evidence-based guidelines for MEN1.
- Population-based studies are crucial for understanding rare diseases like MEN1, with no prior research in the Polish population.
Purpose of the Study:
- To analyze clinical and genetic data of Polish MEN1 patients.
- To identify unique characteristics of the Polish MEN1 cohort compared to other populations.
- To investigate genotype-phenotype correlations, specifically the impact of MEN1 gene mutations on disease manifestation.
Main Methods:
- Retrospective analysis of clinical and genetic data from 79 MEN1 patients.
- Data collected from two Polish referral centers between 1994 and 2018.
- Comparison of prevalence of MEN1-associated tumors and mutation types with existing literature.
Main Results:
- The Polish MEN1 cohort (majority female, mean age 43) showed a high prevalence of primary hyperparathyroidism (90%), gastroenteropancreatic neuroendocrine tumors (GEP-NETs, 52%), and pituitary adenomas (PAs, 47%).
- A distinct prevalence of insulinoma over gastrinoma was observed in Polish patients compared to other populations.
- Patients with a frameshift mutation with a STOP codon in the MEN1 gene had a 3.5-fold increased risk of developing pituitary tumors.
Conclusions:
- The Polish MEN1 population exhibits distinct characteristics, especially in the prevalence of functional neuroendocrine tumors (NETs).
- A specific frameshift mutation in the MEN1 gene is strongly associated with an elevated risk of pituitary adenomas.
- Further research with larger cohorts is essential to fully characterize the Polish MEN1 population and refine diagnostic and management strategies.
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