Pacak-Zhuang syndrome with EPAS1 p.Pro531Leu somatic variant: one case report and literature review.
AI interpretation is pending for this paper.
Open original publication →What the AI sees
Not AI summarized yet.
Research significance
Pending deeper interpretation.
Source abstract
OBJECTIVE: To report a case child of Pacak-Zhuang syndrome with EPAS1 p.Pro531Leu somatic variant in a child and to summarize the clinical characteristics, diagnosis, treatment methods, and prognosis of this syndrome based on a literature review. METHODS: A retrospective analysis was conducted on the clinical data of a child girl with Pacak-Zhuang syndrome admitted to Hebei Children's Hospital in July 2019. Using the search terms 'Pacak-Zhuang syndrome', 'EPAS1', 'HIF-2α', 'HIF-2A', and 'Polycythemia-paraganglioma syndrome', relevant literature was retrieved from PubMed and Web of Science. The clinical manifestations, diagnostic methods, treatment plans, and outcomes of patients with this syndrome were analyzed. RESULTS: A 4-year-old girl had recurrent hypertension, polycythemia and renal hilar masses. Diagnosis was confirmed by imaging, biochemical detection and paraffin tissue genetic testing. She received three operations for paragangliomas; pathology showed CgA(+), Syn(+), NSE(+) and Ki‑67 ≤5%. Follow-up revealed tumor recurrence, but the condition improved with oral temozolomide. Combined with 10 retrieved articles, 18 patients (4 males,14 females, mean age 25 years) were analyzed. Polycythemia was the cardinal manifestation. All patients received surgery, and 10 suffered uncontrolled tumor recurrence. CONCLUSION: Pacak-Zhuang syndrome is a rare disorder involving the neuroendocrine and hematopoietic systems, often initially presenting with 'polycythemia'. Most cases are sporadic, with no apparent familial inheritance or history of other neuroendocrine tumors. When encountering pediatric patients with unexplained hypertension accompanied by polycythemia symptoms, the possibility of this syndrome should be considered, and further imaging studies and genetic testing are required for definitive diagnosis.