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A Study of Paraganglioma Cases With Non-European Ancestry
Sadia Ejaz1, Neeharika Nandam2, Susan Maygarden3
1Endocrinology, Diabetes and Metabolism, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, USA.
Cureus
|September 16, 2022
Summary
This study reports two cases of extra-adrenal paragangliomas (PGLs) in unrelated Congolese women, highlighting potential environmental factors in PGL development among understudied populations.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Extra-adrenal paragangliomas (PGLs) can cause severe cardiovascular complications due to excess catecholamine production.
- While a hereditary basis for PGLs is increasingly recognized, data from non-European populations are scarce.
- Understanding PGLs in diverse populations is crucial for comprehensive diagnosis and management.
Observation:
- Two unrelated Kinyarwanda-speaking females from the Democratic Republic of the Congo presented with PGLs.
- One patient had multifocal PGL in the abdomen and bladder; the other had mediastinal PGL.
- Both patients had negative genetic testing results.
Findings:
- The study identified PGL cases in an underrepresented demographic, suggesting potential environmental or genetic factors beyond known hereditary links.
- One patient's tumor was located in the bladder, an uncommon site for PGL.
- High-altitude exposure in one patient suggests a possible role for hypoxia in PGL pathogenesis.
Implications:
- These cases underscore the need for further research into environmental and genetic factors contributing to PGLs in diverse and vulnerable populations.
- Investigating PGLs in uncommon locations and non-European ancestries is essential for global health equity.
- The findings prompt inquiry into novel risk factors and diagnostic approaches for paragangliomas.
