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<p>The co-occurrence of rhabdomyosarcoma (RMS) and B-cell acute lymphoblastic leukemia (B-ALL) has been rarely reported, and the shared molecular drivers remain unidentified. This case report describes a pediatric patient diagnosed with both malignancies simultaneously. Whole exome sequencing of RMS and B-ALL samples from this patient identified 91 shared somatic mutations. Subsequent principal component analysis (PCA) of the GSE240287, GSE140556, and GSE26713 datasets, combined with cancer driver gene identification using the IntOGen database, revealed five key drivers: <i>ARID1A</i>, <i>CTCF</i>, <i>SUZ12</i>, <i>CREBBP</i>, and <i>ARID2</i>. These genes may collectively drive tumorigenesis in both malignancies through their involvement in chromatin remodeling pathways.</p>

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Shared chromatin remodeling mutations drive concurrent rhabdomyosarcoma and leukemia in a pediatric patient

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年6月16日

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  • Ji’ou Zhao,
  • Huimin Li,
  • Yongren Wang,
  • Xiaoyan Sun,
  • Yongjun Fang,
  • Yao Xue

摘要

The co-occurrence of rhabdomyosarcoma (RMS) and B-cell acute lymphoblastic leukemia (B-ALL) has been rarely reported, and the shared molecular drivers remain unidentified. This case report describes a pediatric patient diagnosed with both malignancies simultaneously. Whole exome sequencing of RMS and B-ALL samples from this patient identified 91 shared somatic mutations. Subsequent principal component analysis (PCA) of the GSE240287, GSE140556, and GSE26713 datasets, combined with cancer driver gene identification using the IntOGen database, revealed five key drivers: ARID1A, CTCF, SUZ12, CREBBP, and ARID2. These genes may collectively drive tumorigenesis in both malignancies through their involvement in chromatin remodeling pathways.