ArticleGenes, chromosomes & cancer2022
Clinicopathologic and survival correlates of embryonal rhabdomyosarcoma driven by RAS/RAF mutations.
Article in Genes, chromosomes & cancer, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Mapping Genomic Heterogeneity in Pediatric and Adolescent-Young Adult Sarcomas: Insights from the Italian SAR-GEN2016 and SAR-GEN_ITA Prospective Multicenter Trials.Cancer research communications · 2026Article
- Noncoding RNAs in Pediatric Solid Tumors: Advances in Understanding and Critical Knowledge Gaps.Cells · 2026Review
- Beyond the Globe: Molecular Diagnostics of Optic Nerve, Orbital, and Adnexal Neoplasms.Translational vision science & technology · 2026Review
- CAR-T cell immunotherapy in rhabdomyosarcoma.Journal of translational medicine · 2026Review
- Adamantinoma-like Ewing sarcoma with NRAS Q61R mutation-a hitherto unreported mutation in a case from the nasal cavity.Virchows Archiv : an international journal of pathology · 2025Article
- Targeted treatment of hypophosphatemia with trametinib in HRAS-related mosaic RASopathy.Orphanet journal of rare diseases · 2025Article
- "Update on pediatric primary liver tumors".Virchows Archiv : an international journal of pathology · 2025Review
- Rhabdomyosarcoma in children and young adults.Virchows Archiv : an international journal of pathology · 2025Review
- Rhabdomyosarcoma With EWSR1::NF2 Gene Fusion: A Case Report Potentially Expanding Its Genetic Spectrum.Genes, chromosomes & cancer · 2025Article
- Botryoid-type Embryonal Rhabdomyosarcoma: A Comprehensive Clinicopathologic and Molecular Appraisal With Cross-comparison to its Conventional-type Counterpart.The American journal of surgical pathology · 2024Article
- Preclinical evidence for employing MEK inhibition in NRAS mutated pediatric gastroenteropancreatic neuroendocrine-like tumors.Translational oncology · 2024Article
- Article
- The Combination of Trametinib and Ganitumab is Effective in RAS-Mutated PAX-Fusion Negative Rhabdomyosarcoma Models.Clinical cancer research : an official journal of the American Association for Cancer Research · 2023Article
- Platinum-Based Regimens Are Active in Advanced Pediatric-Type Rhabdomyosarcoma in Adults and Depending on HMGB1 Expression.International journal of molecular sciences · 2023Article
- Case Report: An NTRK1 fusion-positive embryonal rhabdomyosarcoma: clinical presentations, pathological characteristics and genotypic analyses.Frontiers in oncology · 2023Article
- Case Report: Sequential postzygoticFrontiers in genetics · 2023Article
- Article
- Fusion-Negative Rhabdomyosarcoma: Clinical Application of Targeted RNA Sequencing.Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyArticle
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5 authors.
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Abstract
Embryonal rhabdomyosarcoma (ERMS) is the most common subtype of rhabdomyosarcoma (RMS). Among RMS subtypes, ERMS is associated with a favorable outcome with an overall survival of 70% at 5 years for localized disease. The molecular profile of ERMS is heterogeneous, including mostly point mutations in various genes. Therapeutic strategies have remained relatively consistent irrespective of the molecular abnormalities. In this study, we focus on a homogeneous RAS/RAF mutated ERMS subset and correlate with clinicopathologic findings. Twenty-six cases (16 males and 10 females) were identified from screening 98 ERMS, either by targeted DNA sequencing (MSK-IMPACT) or by Sanger sequencing. Fourteen (54%) cases had NRAS mutations, 6 (23%) had KRAS mutations, 5 (19%) had HRAS mutations, and 1 case (4%) had BRAF mutation. Median age at diagnosis was 8 years (range 1-70) with two-thirds occurring in the children. Tumor sites varied with H&N and GU sites accounting for 62% of cases. RAS isoform hot spot mutations predominated: NRAS p.Q61K (57%), KRAS p.G12D (67%), and HRAS (codons 12, 14, and 61). Additional genetic abnormalities were identified in 85% of the RAS-mutated cases. At last follow-up, 29% of patients died of disease and 23% were alive with disease. The 3-year and 5-year survival rates were 75% and 61% respectively. In conclusion, RAS mutations occur in 27% of ERMS, with NRAS mutations encompassing half of the cases. Overall RAS-mutant RMS does not correlate with age or site, but most tumors show an undifferentiated and spindle cell morphology.
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