SynthesisClinical cancer research : an official journal of the American Association for Cancer Research2024
Cancer in Multilineage Mosaic RASopathies due to Pathogenic Variants in HRAS or KRAS: A Systematic Review and Meta-analysis.
Synthesis in Clinical cancer research : an official journal of the American Association for Cancer Research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed.
- Mitochondrial dynamics in neurodevelopment and neurodevelopmental disorders.Nature reviews. Neuroscience · 2026Review
- ALDH2 inhibits head and neck tumorigenesis through RAS signaling suppression, transactivation of TGM2, and synergy with ALDH6A1.Cellular and molecular life sciences : CMLS · 2026Article
- Topical sirolimus for the treatment of verrucous epidermal nevus associated with anFrontiers in medicine · 2026Article
- Model of care for individuals with rare cancer predisposition syndromes in Germany.The Lancet regional health. Europe · 2025Review
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7 authors.
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Abstract
purposeTo determine the cancer risk and spectrum in patients with multilineage mosaic RASopathies with pathogenic variants (PV) in HRAS or KRAS. EXPERIMENTAL
designWe conducted a systematic literature review to identify multilineage mosaic RASopathy cases with a PV in HRAS or KRAS to create a retrospective cohort. We calculated cumulative incidence, cancer-free survival, and hazard rates for cancer and standardized incidence rates (SIR).
resultsThis study identified 69 patients. Of these, 17% had cancer, including rhabdomyosarcoma (RMS) located in the urogenital region (n = 7), skin cancer (n = 3), Wilms tumor (n = 1), and bladder cancer (n = 1). Cumulative cancer incidence by age 20 was 20% (95% confidence interval, 4%-37%). The annual cancer hazard rate peaked at 14% within the first 2 years of life. The highest SIR was found for RMS (SIR = 800; 95% confidence interval, 300-1648).
conclusionsThis is the first investigation of cancer risk in KRAS or HRAS PV-positive mosaic RASopathies to date. The high incidence and SIR values found highlight the need for rigorous RMS surveillance in young children and skin cancer surveillance in adults with this high-risk condition.
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