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May 29, 2026Journal of Clinical Oncology

Characterizing the genomic landscape of Langerhans cell histiocytosis using the AACR Project GENIE database.

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Authors

ACAmber ChangUniversity of South FloridaSVSharanya VenkatesanArizona State UniversitySPSuraj PuvvadiArizona State University

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Implication

Randomized trial uncovers genomic mutations in Langerhans cell histiocytosis, suggesting new treatment targets.

Key Points

  • This study aims to characterize the genomic landscape of Langerhans cell histiocytosis (LCH) using the AACR Project GENIE database.
  • Data accessed through cBioPortal (v18.0-public) to identify LCH patients.
  • Gene mutations and demographics were tabulated, with statistical correlations assessed using t-tests and non-parametric analyses.
  • Excluded entries with unknown values and analyzed 326 samples from 290 patients.
  • Identified frequent mutations in BRAF (38.7%), MAP2K1 (17.5%), with unique mutations enriched in Asian and Black patients.
  • BRAF mutations were mutually exclusive with MAP2K1 mutations (p<0.001), while TET2 mutations co-occurred with ASXL1 mutations (p<0.05).
  • No significant mutation differences between primary and metastatic samples (p>0.05).

Cite This Study

Chang et al. (2026) studied this question.

synapsesocial.com/papers/6a192d2dfab5b468c4415f69https://doi.org/10.1200/jco.2026.44.16_suppl.6572
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Also Consider

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

  1. 1BRAF deletion in adult patients with Langerhans cell histiocytosis correlates with multisystem disease and poor outcome2024 · 1 citations
  2. 2Langerhans Cell Histiocytosis in Adults: A Canadian Multicenter Case Series2026
  3. 3Detection of mutation in cell-free DNA predicts poor outcomes in adult patients with langerhans cell histiocytosis2025
  4. 4Efficacy of frontline fixed duration chemotherapy in MAPK-pathway altered adult langerhans cell histiocytosis: A multi-institutional international retrospective study2025
  5. 5Langerhans Cell Histiocytosis Associated With Chronic Myeloid Leukemia: A Pediatric Case Report2026