AI Article Synopsis
- - A male patient was diagnosed with Pacak-Zhuang syndrome, showing symptoms like polycythemia at a young age, pheochromocytomas, duodenal somatostatinoma, and specific eye issues.
- - Genetic analysis revealed an EPAS1 mutation in all his tumors, indicating a tumor-specific change.
- - However, this mutation was not found in his germline DNA, suggesting it occurred during tumor development rather than being inherited.
Article Abstract
We report an index case of a male patient who presented with all clinical manifestations of Pacak-Zhuang syndrome, including early-age polycythemia, multiple pheochromocytomas/paragangliomas, duodenal somatostatinoma, and ocular findings. Sequencing analysis detected an EPAS1 mutation in all tumors tested, but not in the germline.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7036331 | PMC |
| http://dx.doi.org/10.1002/pbc.28096 | DOI Listing |
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