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September 26, 2024Molecular CancerOpen Access

A high proportion of germline variants in pediatric chronic myeloid leukemia

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Authors

MKManuela KrumbholzADAnna DolnikESEric Sträng

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Overview

Genomic analysis demonstrates frequent predisposing germline variants in pediatric chronic myeloid leukemia, suggesting inherited mutations facilitate early disease onset.

Key Points

  • To investigate the mutational landscape of pediatric chronic myeloid leukemia and determine whether predisposing germline variants contribute to early-age disease onset.
  • Performed whole exome sequencing and targeted sequencing on pediatric and adult chronic myeloid leukemia samples to compare age-related germline and somatic variants alongside the BCR::ABL1 translocation.
  • Identified germline variants in approximately 60% of pediatric patients, predominantly in hematopoietic genes such as ASXL1, NOTCH1, KDM6B, and TET2, at rates significantly higher than in adults.
  • Detected confirmed pathogenic cancer-predisposing germline variants in roughly 10% of pediatric chronic myeloid leukemia cases.

Cite This Study

Krumbholz et al. (2024) studied this question.

synapsesocial.com/papers/6a6f2f2ee71d69abee07e625https://doi.org/10.1186/s12943-024-02109-5
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Also Consider

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  1. 1Clinical Effect of Point Mutations in Myelodysplastic Syndromes2011 · 1,640 citations
  2. 2Pediatric chronic myeloid leukemia is a unique disease that requires a different approach2015 · 218 citations
  3. 3Clinical significance of somatic mutation in unexplained blood cytopenia2017 · 480 citations
  4. 4Evidence for a multistep pathogenesis of chronic myelogenous leukemia1981 · 330 citations