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December 8, 2025Blood

Performance and clinical utility of germline genetic testing criteria for predisposition to myeloid neoplasms in adults

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Authors

GLGuillermo Ramil LópezLMLucia García MañóFLFélix López

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Overview

Prospective multicenter registry shows 30% pathogenic germline variants in adults with myeloid neoplasms, suggesting improved criteria may enhance detection.

Key Points

  • This research aimed to evaluate standardized germline genetic testing criteria for hereditary hematopoietic malignancies.
  • Launched a prospective multicenter registry for data collection on germline testing criteria.
  • Collected clinical and genetic data on individuals undergoing germline testing.
  • Germline status confirmed using non-hematopoietic tissues and NGS panels or whole-exome sequencing.
  • Identified germline variants in 30% of individuals tested, surpassing previous benchmarks of 10-15% for solid tumors.
  • The most frequent variants were in RUNX1 and other genes associated with hematological malignancies.
  • Standardized criteria demonstrated the highest diagnostic yield in individuals with suggestive clinical features.

Cite This Study

López et al. (2025) studied this question.

synapsesocial.com/papers/693624d74fa91c937236d141https://doi.org/10.1182/blood-2025-4998
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Also Consider

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

  1. 1Germline predisposition in pediatric malignancies: Insights from a retrospective study at Dana-Farber Cancer Institute2025
  2. 2Implementing a Genetic Counselor‐Led Model for Hereditary Myeloid Malignancies: A Real‐World Study2025
  3. 3Selective germline testing in multiple myeloma patients yields a six-fold increase in actionable cancer predisposition findings: Time for screening guidelines?2025 · 1 citations
  4. 4Data from Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study2025
  5. 5Intermediate and high-risk clonal hematopoiesis in germline predisposition families2025