ArticleTranslational andrology and urology2020
Clinical and genetic features of pediatric PCCs/PGLs patients: a single-center experience in China.
Article in Translational andrology and urology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
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Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.
- Metastatic Disease in Phaeochromocytomas and Paragangliomas in Various Genotypes-A Systematic Review and Meta-analysis.The Journal of clinical endocrinology and metabolism · 2026Pooled it
- Pediatric and adolescent von Hippel-Lindau disease: tumor profiles, genotype-phenotype correlation and comparison with adults.Journal of endocrinological investigation · 2025Article
- Surgical treatment of large pheochromocytoma (>6 cm): A 10-year single-center experience.Asian journal of urology · 2022Article
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlthough 40% to 80% of pediatric patients with pheochromocytoma (PCC) and paraganglioma (PGL) have been reported to carry germline mutations, the genetic and clinical features are poorly understood, and few such patients have undergone genetic testing. In this series, we aimed to investigate the clinical and genetic features of Han Chinese pediatric patients with PCC/PGL.
methodsThe medical records of 15 pediatric patients with PCC/PGL who presented to our hospital between 2006 and 2018 were retrospectively studied. DNAs isolated from leukocytes of the patients were analyzed using whole-exome sequencing (WES).
resultsThe patients were nine girls and six boys with a mean age of 14.9 (range, 6-18) years. All were alive after a follow-up from 1 to 12 years, although two were diagnosed with pulmonary metastatic PGLs. Four patients were diagnosed with bilateral PCCs. Four patients were diagnosed with tumor syndromes. Among the 15 patients, nine were identified carrying germline mutations, of which seven were
conclusionsAmong 15 pediatric patients studied, nine were identified carrying germline genetic mutations, four were diagnosed with bilateral PCCs, and four were diagnosed with other syndromic tumors in addition to PCC, which underscores the importance of genetic testing and managing treatment accordingly.
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