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CHEK2 Alterations in Pediatric Malignancy: A Single-Institution Experience.

Eman Abdelghani1, Kathleen M Schieffer2,3,4, Catherine E Cottrell2,3,4

  • 1Division of Hematology/Oncology/Blood and Marrow Transplantation, Nationwide Children's Hospital, Columbus, OH 43205, USA.

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|March 29, 2023
PubMed
Summary

Checkpoint kinase 2 (CHEK2) germline alterations are linked to diverse pediatric cancers. This study details clinical presentations and outcomes in six pediatric oncology patients with CHEK2 variants, highlighting the need for further research.

Keywords:
CHEK2cancercancer predispositiongenetic counselingpediatric oncology

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Area of Science:

  • Genetics
  • Oncology
  • Pediatrics

Background:

  • Germline alterations in cancer-predisposing genes account for approximately 10% of pediatric malignancies.
  • Checkpoint kinase 2 (CHEK2) germline loss-of-function variants are implicated in pediatric cancers, but their clinical impact remains unclear.

Purpose of the Study:

  • To describe the clinical phenotypes and outcomes of pediatric oncology patients with CHEK2 germline alterations.
  • To review existing data on CHEK2 variants in pediatric cancer and discuss challenges in interpretation and genetic counseling.

Main Methods:

  • Retrospective chart review of pediatric oncology patients with identified CHEK2 germline alterations.
  • Analysis of clinical presentations, disease course, and outcomes at a single institution.

Main Results:

  • Six pediatric patients with CHEK2 germline variants were identified from a cohort of 300 individuals.
  • Tumor types included Burkitt lymphoma, neuroblastoma, brain tumors, Ewing sarcoma, and myelodysplastic syndrome.
  • Outcomes varied, with some patients achieving remission, one undergoing treatment, and one developing treatment-related meningiomas.

Conclusions:

  • CHEK2 germline loss-of-function alterations are associated with a spectrum of pediatric tumors.
  • Larger, multicenter studies are necessary to fully elucidate the incidence, phenotype, and molecular biology of CHEK2 variants in pediatric cancers.