Faculty Collaboration Database

Update on Tumor Surveillance for Children with Hereditary Pheochromocytoma/Paraganglioma Syndromes. Clin Cancer Res 2025 Aug 14;31(16):3368-3376

Date

06/24/2025

Pubmed ID

40549645

DOI

10.1158/1078-0432.CCR-24-4354

Scopus ID

2-s2.0-105013563080 (requires institutional sign-in at Scopus site)   5 Citations

Abstract

Hereditary pheochromocytoma/paraganglioma syndromes (HPPS) are a collection of conditions caused by variants in genes producing subunits of the succinate dehydrogenase (SDH) complex or related proteins. These conditions are characterized by substantial lifetime risks for developing pheochromocytomas, paragangliomas, and other tumors. Affected individuals who develop these tumors may experience severe, acute, and chronic problems. Indeed, aggressive, malignant, and/or disseminated tumors may result in death. Tumor surveillance enables early intervention, which, in turn, should lead to improved clinical outcomes. However, the desire for intensive surveillance strategies must be balanced against medical and psychosocial risks. In 2017, consensus HPPS surveillance recommendations addressing germline predisposition to SDHA-, SDHAF2-, SDHB-, SDHC-, SDHD-, MAX-, and TMEM127 (collectively, SDHx+)-related tumors were published after the inaugural American Association for Cancer Research Childhood Cancer Predisposition Workshop. Based on the limited available clinical data at that time, these recommendations advocated a uniform approach to tumor surveillance in HPPS. Since then, several other groups have proposed alternative consensus surveillance guidelines. Although these surveillance approaches share some common elements, including recommendations tailored to emerging differences in tumor phenotype based on underlying specific SDHx+ genes, these approaches also vary significantly among each other. As clinical data continue to accrue, it is critical that surveillance strategies continue to be refined to address emerging genotype-phenotype differences. In this review, we provide a brief up-to-date clinical overview of HPPS and describe recently proposed tumor surveillance regimens. We then detail our updated consensus pediatric-focused tumor surveillance recommendations from the 2023 American Association for Cancer Research Childhood Cancer Predisposition Workshop.

Author List

Rednam SP, Kamihara J, Becktell KD, Brodeur GM, States LJ, Voss SD, Villani A, Zelley K, Malkin D, Nakano Y, Doria AS, Widjaja E, Pajtler KW, Schneider KW, Achatz MI, Diller LR, Gallinger B, Tamura C, Wasserman JD

Author

Kerri Becktell MD Associate Professor in the Pediatrics department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Adrenal Gland Neoplasms
Child
Early Detection of Cancer
Genetic Predisposition to Disease
Germ-Line Mutation
Humans
Neoplastic Syndromes, Hereditary
Paraganglioma
Pheochromocytoma
Succinate Dehydrogenase