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Genetic landscape of Romanian PPGLs
Sofia-Maria Lider-Burciulescu1,2, Monica Gheorghiu2,3, Elena Braha3
1"Ana Aslan", National Institute of Geriatrics and Gerontology, Bucharest, Romania.
Journal of Cellular and Molecular Medicine
|December 14, 2024
Summary
This study found that hereditary pheochromocytomas and paragangliomas (PPGLs) are diagnosed younger and occur more often bilaterally. The RET pathogenic variant (p.Cys634Trp) linked to MEN2A syndrome is prevalent in Romania.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors originating from chromaffin cells.
- Approximately 70% of PPGLs are linked to single-driver gene mutations, either germline or somatic.
Purpose of the Study:
- To investigate the genetic background of PPGLs in Romania.
- To correlate clinical characteristics with genetic profiles in Romanian PPGL patients.
Main Methods:
- Retrospective analysis of 125 PPGL patients diagnosed between 1976 and 2022.
- Genomic studies performed on 80 patients to identify mutations.
- Comparison of clinical data between hereditary and sporadic PPGL cases.
Main Results:
- Of 80 patients with genomic data, 28 (35%) had germline mutations and 52 (65%) had sporadic disease.
- Hereditary PPGL patients were significantly younger at diagnosis (37 vs. 49.9 years, p=0.001) and more frequently developed bilateral tumors.
- The RET pathogenic variant (p.Cys634Trp) associated with MEN2A syndrome was the most common, suggesting a founder effect in the Romanian population.
Conclusions:
- Hereditary PPGL patients present at a younger age and have a higher incidence of bilateral tumors compared to sporadic cases.
- The RET p.Cys634Trp variant may represent a founder mutation for PPGLs in Romania.
- Genetic profiling is crucial for understanding PPGL heterogeneity and guiding clinical management.
