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Clinical characteristics and outcomes of SDHB-related pheochromocytoma and paraganglioma in children and adolescents

Abstract

Purpose

Pheochromocytomas/paragangliomas (PHEOs/PGLs) are rare in children with only a few SDHB mutation-related cases. Previous studies on children were conducted in small cohorts. This large set of pediatric patients provides robust data in the evaluation of clinical outcomes.

Methods

Sixty-four pediatric PHEO/PGL patients with SDHB germline mutations were included in the present study. The clinical presentation, disease course, and survival rate were evaluated.

Results

Thirty-eight males and 26 females were diagnosed with PHEO/PGL at a median age of 13 years. The majority of patients displayed norepinephrine hypersecretion and 73.44% initially presented with a solitary tumor. Metastases developed in 70% of patients at the median age of 16 years and were mostly diagnosed first 2 years and in years 12–18 post-diagnosis. The presence of metastases at the time of diagnosis had a strong negative impact on survival in males but not in females. The estimated 5-, 10-, and 20-year survival rates were 100%, 97.14%, and 77.71%, respectively.

Conclusion

The present report has highlighted several important aspects in the management of pediatric patients with SDHB mutations associated-PHEO/PGL. Initial diagnostic evaluation of SDHB mutation carriers should be started at age of 5–6 years with initial work-up focusing on abdominal region. Thorough follow-up is crucial first 2 years post-diagnosis and more frequent follow-ups are needed in years 10–20 post-diagnosis due to the increased risk of metastases. Although this age group developed metastasis as early as 5 years from diagnosis, we have shown that the overall 20-year prognosis and survival are good.

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Funding

This work was supported by the Intramural Research Program of the Eunice Kennedy Shriver NICHD, NIH (Grant Z1AHD008735).

Author information

All authors contributed to the study conception and design. Material preparation, data collection and analysis were performed by IJ, AMTA, RJSG, CLPM, RW, TP, and KP. The first draft of the manuscript was written by IJ and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Correspondence to Karel Pacak.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

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Informed assent from the patients and signed permission from one or both parents were obtained for all the individual participants included in the study.

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Jochmanova, I., Abcede, A.M.T., Guerrero, R.J.S. et al. Clinical characteristics and outcomes of SDHB-related pheochromocytoma and paraganglioma in children and adolescents. J Cancer Res Clin Oncol (2020). https://doi.org/10.1007/s00432-020-03138-5

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Keywords

  • Pheochromocytoma
  • Paraganglioma
  • SDHB mutation
  • Pediatric oncology