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Cancer in Multilineage Mosaic RASopathies due to Pathogenic Variants in HRAS or KRAS: A Systematic Review and

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Patients with mosaic RASopathies due to HRAS or KRAS pathogenic variants face a significant cancer risk, particularly rhabdomyosarcoma in children. Early surveillance for rhabdomyosarcoma and skin cancer is crucial.

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Area of Science:

  • Genetics and Oncology
  • Rare Disease Research

Background:

  • Mosaic RASopathies, caused by pathogenic variants in HRAS or KRAS, are rare genetic conditions.
  • The cancer spectrum and risk associated with multilineage mosaic RASopathies remain incompletely understood.

Approach:

  • A systematic literature review identified 69 patients with multilineage mosaic RASopathies and HRAS/KRAS pathogenic variants.
  • Retrospective cohort analysis calculated cumulative incidence, cancer-free survival, and standardized incidence ratios (SIR).

Key Points:

  • 17% of identified patients developed cancer, including rhabdomyosarcoma (RMS), skin cancer, Wilms tumor, and bladder cancer.
  • Cumulative cancer incidence by age 20 was 20%; the annual cancer hazard rate peaked at 14% in the first two years of life.
  • RMS showed a significantly elevated SIR of 800, indicating a very high risk.

Conclusions:

  • This is the first study to investigate cancer risk in HRAS/KRAS mosaic RASopathies.
  • High incidence and SIR for RMS underscore the need for vigilant surveillance in young children.
  • Adults with this condition require monitoring for skin cancer due to elevated risk.