Shared chromatin remodeling mutations drive concurrent rhabdomyosarcoma and leukemia in a pediatric patient
Abstract 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...
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| Format: | Article |
| Language: | English |
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Springer
2025-06-01
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| Series: | Discover Oncology |
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| Online Access: | https://doi.org/10.1007/s12672-025-02967-5 |
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| author | Ji’ou Zhao Huimin Li Yongren Wang Xiaoyan Sun Yongjun Fang Yao Xue |
| author_facet | Ji’ou Zhao Huimin Li Yongren Wang Xiaoyan Sun Yongjun Fang Yao Xue |
| author_sort | Ji’ou Zhao |
| collection | DOAJ |
| description | Abstract 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. |
| format | Article |
| id | doaj-art-ea3e52c719994528a9536c6e047fcf3d |
| institution | Kabale University |
| issn | 2730-6011 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Springer |
| record_format | Article |
| series | Discover Oncology |
| spelling | doaj-art-ea3e52c719994528a9536c6e047fcf3d2025-08-20T03:47:14ZengSpringerDiscover Oncology2730-60112025-06-011611610.1007/s12672-025-02967-5Shared chromatin remodeling mutations drive concurrent rhabdomyosarcoma and leukemia in a pediatric patientJi’ou Zhao0Huimin Li1Yongren Wang2Xiaoyan Sun3Yongjun Fang4Yao Xue5Department of Hematology, Children’s Hospital of Nanjing Medical UniversityDepartment of Hematology, Children’s Hospital of Nanjing Medical UniversityDepartment of Hematology, Children’s Hospital of Nanjing Medical UniversityDepartment of Hematology, Children’s Hospital of Nanjing Medical UniversityDepartment of Hematology, Children’s Hospital of Nanjing Medical UniversityDepartment of Hematology, Children’s Hospital of Nanjing Medical UniversityAbstract 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.https://doi.org/10.1007/s12672-025-02967-5RhabdomyosarcomaLeukemiaChromatin remodelingWhole exome sequencing |
| spellingShingle | Ji’ou Zhao Huimin Li Yongren Wang Xiaoyan Sun Yongjun Fang Yao Xue Shared chromatin remodeling mutations drive concurrent rhabdomyosarcoma and leukemia in a pediatric patient Discover Oncology Rhabdomyosarcoma Leukemia Chromatin remodeling Whole exome sequencing |
| title | Shared chromatin remodeling mutations drive concurrent rhabdomyosarcoma and leukemia in a pediatric patient |
| title_full | Shared chromatin remodeling mutations drive concurrent rhabdomyosarcoma and leukemia in a pediatric patient |
| title_fullStr | Shared chromatin remodeling mutations drive concurrent rhabdomyosarcoma and leukemia in a pediatric patient |
| title_full_unstemmed | Shared chromatin remodeling mutations drive concurrent rhabdomyosarcoma and leukemia in a pediatric patient |
| title_short | Shared chromatin remodeling mutations drive concurrent rhabdomyosarcoma and leukemia in a pediatric patient |
| title_sort | shared chromatin remodeling mutations drive concurrent rhabdomyosarcoma and leukemia in a pediatric patient |
| topic | Rhabdomyosarcoma Leukemia Chromatin remodeling Whole exome sequencing |
| url | https://doi.org/10.1007/s12672-025-02967-5 |
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