Pediatric solid tumors and associated cancer predisposition syndromes: Workup, management, and surveillance. A summary from the APSA Cancer Committee.

Journal Article (Journal Article;Review)

BACKGROUND/PURPOSE: Cancer predisposition syndromes (CPS) are a heterogeneous group of inherited disorders that greatly increase the risk of developing malignancies. CPS are particularly relevant to pediatric surgeons since nearly 10% of cancer diagnoses are due to inherited genetic traits, and CPS often contribute to cancer development during childhood. MATERIALS/METHODS: The English language literature was searched for manuscripts, practice guidelines, and society statements on "cancer predisposition syndromes in children". Following review of these manuscripts and cross-referencing of their bibliographies, tables were created to summarize findings of the most common CPS associated with surgically treated pediatric solid malignancies. RESULTS: Pediatric surgeons should be aware of CPS as the identification of one of these syndromes can completely change the management of certain tumors, such as WT. The most common CPS associated with pediatric solid malignancies are outlined, with an emphasis on those most often encountered by pediatric surgeons: neuroblastoma, Wilms' tumor, hepatoblastoma, and medullary thyroid cancer. Frequently associated non-tumor manifestations of these CPS are also included as a guide to increase surgeon awareness. Screening and management guidelines are outlined, and published genetic testing and counseling guidelines are included where available. CONCLUSION: Pediatric surgeons play an important role as surgical oncologists and are often the first point of contact for children with solid tumors. In their role of delivering a diagnosis and developing a follow-up and treatment plan as part of a multidisciplinary team, familiarity with common CPS will ensure evidence-based practices are followed, including important principles such as organ preservation and intensified surveillance plans. This review defines and summarizes the CPS associated with common childhood solid tumors encountered by the pediatric surgeon, as well as common non-cancerous disease stigmata that may help guide diagnosis. TYPE OF STUDY: Summary paper. LEVEL OF EVIDENCE: 5.

Full Text

Duke Authors

Cited Authors

  • Grant, CN; Rhee, D; Tracy, ET; Aldrink, JH; Baertschiger, RM; Lautz, TB; Glick, RD; Rodeberg, DA; Ehrlich, PF; Christison-Lagay, E

Published Date

  • March 2022

Published In

Volume / Issue

  • 57 / 3

Start / End Page

  • 430 - 442

PubMed ID

  • 34503817

Electronic International Standard Serial Number (EISSN)

  • 1531-5037

Digital Object Identifier (DOI)

  • 10.1016/j.jpedsurg.2021.08.008


  • eng

Conference Location

  • United States