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Update on pediatric cancer predisposition syndromes

Joshua D Schiffman1, James I Geller, Erin Mundt

  • 1Center for Children's Cancer Research and Department of Pediatrics, University of Utah, Salt Lake City, Utah 84112, USA. joshua.schiffman@hci.utah.edu

Pediatric Blood & Cancer
|April 30, 2013
PubMed

Insights

Pediatric cancer predisposition syndromes are increasingly recognized. This review covers new syndromes, genetic testing, and ethical considerations for families with hereditary cancer risk.

Area of Science:

  • Pediatric Hematology/Oncology
  • Genetics
  • Cancer Predisposition Syndromes

Background:

  • Hereditary cancer syndromes in pediatric patients are gaining recognition.
  • Understanding these syndromes is crucial for pediatric hematologists/oncologists.
  • Familial cancer risk impacts entire families, necessitating comprehensive care.

Purpose of the Study:

  • To review key topics from the American Society of Pediatric Hematology/Oncology (ASPHO) 2012 workshop.
  • To provide an overview of newly described pediatric cancer predisposition syndromes.
  • To discuss genetic testing, screening, and ethical issues related to inherited cancer risk in children.

Main Methods:

  • Review of presentations from the ASPHO 2012 Annual Meeting.
  • Summary of newly identified cancer predisposition syndromes.
  • Discussion of genetic testing, screening protocols, and ethical dilemmas.

Main Results:

  • Highlights newly described syndromes: Rhabdoid Tumor Predisposition Syndrome, Hereditary Paragangliomas and Pheochromocytoma Syndrome, and DICER1 Syndrome.
  • Covers genetic testing and screening strategies for pediatric cancer predisposition.
  • Addresses ethical issues like PGD/PGT and incidental findings from whole genome sequencing.

Conclusions:

  • Increased awareness and understanding of hereditary cancer syndromes are vital in pediatric oncology.
  • Genetic testing and ethical considerations are integral to managing families with inherited cancer risk.
  • The review emphasizes the importance of a multidisciplinary approach to pediatric cancer predisposition.

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