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July 15, 2025

Data from Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study

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Authors

BTBianca TesiARAnna RobeliusBBBerivan Baskin

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Overview

Prospective cohort study shows a 35% diagnostic yield for germline investigation in myeloid neoplasms, indicating clinical efficacy of the Nordic guidelines.

Key Points

  • Pathogenic or likely pathogenic germline variants were found in 35% of 85 patients with myeloid neoplasms.
  • Diagnostic yield varied significantly, with a 52% yield in the CytoMol group compared to 6% in the family history group.
  • Genetic analysis utilized whole-exome sequencing for most patients, effectively identifying key variants.
  • This study highlights the utility of Nordic guidelines, supporting their application in clinical genetics for myeloid neoplasms.

Cite This Study

Tesi et al. (2025) studied this question.

synapsesocial.com/papers/689a02bce6551bb0af8cc645https://doi.org/10.1158/1078-0432.c.7928404
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Also Consider

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

  1. 1Supplementary Figure 5 from Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study2025
  2. 2Supplementary Figure 2 from Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study2025
  3. 3Supplementary Figure 4 from Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study2025
  4. 4Supplementary Figure 1 from Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study2025
  5. 5Performance and clinical utility of germline genetic testing criteria for predisposition to myeloid neoplasms in adults2025