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Clinical and genetic features of pediatric PCCs/PGLs patients: a single-center experience in China
Minghao Li1, Cikui Wang1, Peihua Liu1
1Department of Urology, Xiangya Hospital, Central South University, Changsha 410008, China.
Insights
Genetic testing in pediatric patients with pheochromocytoma (PCC) and paraganglioma (PGL) identified germline mutations in nine of fifteen Han Chinese children. This highlights the importance of genetic analysis for these rare tumors.
Area of Science:
- Pediatric Endocrinology
- Oncology
- Medical Genetics
Background:
- Pheochromocytoma (PCC) and paraganglioma (PGL) in children are rare tumors, often associated with germline mutations.
- Understanding the genetic landscape and clinical presentation of pediatric PCC/PGL is crucial, yet remains limited.
- Genetic testing rates in this population are low, hindering comprehensive characterization.
Purpose of the Study:
- To investigate the clinical and genetic features of Han Chinese pediatric patients diagnosed with PCC/PGL.
- To identify common germline mutations and associated clinical syndromes in this cohort.
- To emphasize the role of genetic testing in the management of pediatric PCC/PGL.
Main Methods:
- Retrospective analysis of medical records from 15 pediatric patients with PCC/PGL (2006-2018).
- Whole-exome sequencing (WES) of DNA extracted from patient leukocytes.
- Clinical data review including diagnosis, tumor characteristics, and follow-up.
Main Results:
- Nine out of 15 pediatric patients carried germline mutations, predominantly in VHL (7 patients), with single cases in RET and SDHB.
- Two patients had pulmonary metastatic PGLs; four had bilateral PCCs, and four were diagnosed with tumor syndromes.
- A de novo VHL mutation (c.193T>A) was identified in a patient with clinical VHL syndrome.
Conclusions:
- Germline mutations are prevalent in Han Chinese pediatric PCC/PGL patients, with VHL being the most common.
- The presence of bilateral PCCs and syndromic tumors underscores the need for thorough genetic evaluation.
- Genetic testing is essential for accurate diagnosis, risk stratification, and tailored management of pediatric PCC/PGL.
Background:
Although 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.
Methods:
The 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).
Results:
The 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 VHL and one each of RET and SDHB. In addition, a de novo mutation, VHL c.193T>A, was identified in a patient clinically diagnosed with a VHL syndrome.
Conclusions:
Among 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.
