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December 8, 2025Blood

Germline predisposition in pediatric malignancies: Insights from a retrospective study at Dana-Farber Cancer Institute

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Authors

JKJunne KamiharaJKJennifer C. KesselheimRRR. Grant Rowe

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Overview

Retrospective study finds 23% of pediatric malignancies have genetic predisposition, suggesting genetic counseling is vital.

Key Points

  • This research aims to evaluate the prevalence of hereditary hematologic malignancies (HHM) among children and young adults.
  • Conducted a retrospective chart review of patients with newly diagnosed or relapsed hematologic malignancies from Dana-Farber Cancer Institute.
  • Patients eligible were those treated between 2020 and 2024.
  • Focused on referrals for genetic counseling and results from germline genetic testing using multi-gene panels.
  • 571 patients were evaluated, with 36% referred for genetic counseling.
  • 48% of patients tested had a pathogenic or likely pathogenic variant, with 23% showing significant genetic predisposition.
  • Treatment decisions were influenced, including upstaging therapy for acute myeloid leukemia cases.

Cite This Study

Kamihara et al. (2025) studied this question.

synapsesocial.com/papers/69362f444fa91c937236d5bbhttps://doi.org/10.1182/blood-2025-3213
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Performance and clinical utility of germline genetic testing criteria for predisposition to myeloid neoplasms in adults2025
  2. 2Outcomes of Germline Testing for Children with Hematologic Malignancies Undergoing Hematopoietic Cell Transplantation2026
  3. 3Expanded germline genetic testing of patients with hematologic malignancies to identify high proportion with hereditary cancer predisposition.2026
  4. 4Germline Predisposition to Hematopoietic Malignancies: An Overview2024
  5. 5Germline Predisposition in Hematologic Malignancies: Testing, Management, and Implications2024 · 23 citations