Genomic profiling and pathological assessment of malignant peripheral nerve sheath tumors
Abstract Purpose Addressing the significant clinical challenges associated with managing malignant peripheral nerve sheath tumor (MPNST), this study focuses on the difficulties encountered in achieving accurate pathological diagnosis and the exploration of effective treatment options through genomic...
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| Format: | Article |
| Language: | English |
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Springer
2025-05-01
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| Series: | Journal of Cancer Research and Clinical Oncology |
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| Online Access: | https://doi.org/10.1007/s00432-025-06209-7 |
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| author | Qian Cui Fen Zhang Jian Liu Jie Xu Hongmei Wu Fangping Xu Qingling Zhang |
| author_facet | Qian Cui Fen Zhang Jian Liu Jie Xu Hongmei Wu Fangping Xu Qingling Zhang |
| author_sort | Qian Cui |
| collection | DOAJ |
| description | Abstract Purpose Addressing the significant clinical challenges associated with managing malignant peripheral nerve sheath tumor (MPNST), this study focuses on the difficulties encountered in achieving accurate pathological diagnosis and the exploration of effective treatment options through genomic analysis. Methods The study included 20 patients with an initial pathological diagnosis of MPNST. Next-generation sequencing-based genomic analysis was conducted to assess the molecular features of MPNST, specifically looking for somatic mutations and actionable mutations. Results The genomic analysis resulted in diagnostic refinement or reassignment for 20% of the cases. Somatic mutations were predominantly enriched in the RTK/RAS pathway, accounting for 64.7% of the findings. Additionally, actionable mutations were identified in 70.6% of patients who had a confirmed diagnosis of MPNST. Notably, the study revealed the presence of altered genes that were absent in Western populations, suggesting potential ethnic differences and the opportunity for alternative treatment strategies. Furthermore, patients with CDKN2A mutations exhibited significantly shorter disease-free survival compared to those without such mutations, with median survival times of 6.08 months versus 14.3 months (p = 0.0038). Conclusion The findings emphasize the necessity of molecular testing for accurate diagnosis of MPNST, which can guide optimal therapeutic options and highlight the need for tailored treatment strategies considering the heterogeneity of pathological phenotypes and molecular features among patients. |
| format | Article |
| id | doaj-art-fa1f313b92bc4343acd6af25bec3788d |
| institution | DOAJ |
| issn | 1432-1335 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Springer |
| record_format | Article |
| series | Journal of Cancer Research and Clinical Oncology |
| spelling | doaj-art-fa1f313b92bc4343acd6af25bec3788d2025-08-20T03:20:59ZengSpringerJournal of Cancer Research and Clinical Oncology1432-13352025-05-01151511110.1007/s00432-025-06209-7Genomic profiling and pathological assessment of malignant peripheral nerve sheath tumorsQian Cui0Fen Zhang1Jian Liu2Jie Xu3Hongmei Wu4Fangping Xu5Qingling Zhang6Department of Pathology, Guangdong Provincial People’s Hospital (Guangdong Academy of Medical Sciences), Southern Medical UniversityDepartment of Pathology, Guangdong Provincial People’s Hospital (Guangdong Academy of Medical Sciences), Southern Medical UniversityDepartment of Pathology, Guangdong Provincial People’s Hospital (Guangdong Academy of Medical Sciences), Southern Medical UniversityDepartment of Pathology, Guangdong Provincial People’s Hospital (Guangdong Academy of Medical Sciences), Southern Medical UniversityDepartment of Pathology, Guangdong Provincial People’s Hospital (Guangdong Academy of Medical Sciences), Southern Medical UniversityDepartment of Pathology, Guangdong Provincial People’s Hospital (Guangdong Academy of Medical Sciences), Southern Medical UniversityDepartment of Pathology, Guangdong Provincial People’s Hospital (Guangdong Academy of Medical Sciences), Southern Medical UniversityAbstract Purpose Addressing the significant clinical challenges associated with managing malignant peripheral nerve sheath tumor (MPNST), this study focuses on the difficulties encountered in achieving accurate pathological diagnosis and the exploration of effective treatment options through genomic analysis. Methods The study included 20 patients with an initial pathological diagnosis of MPNST. Next-generation sequencing-based genomic analysis was conducted to assess the molecular features of MPNST, specifically looking for somatic mutations and actionable mutations. Results The genomic analysis resulted in diagnostic refinement or reassignment for 20% of the cases. Somatic mutations were predominantly enriched in the RTK/RAS pathway, accounting for 64.7% of the findings. Additionally, actionable mutations were identified in 70.6% of patients who had a confirmed diagnosis of MPNST. Notably, the study revealed the presence of altered genes that were absent in Western populations, suggesting potential ethnic differences and the opportunity for alternative treatment strategies. Furthermore, patients with CDKN2A mutations exhibited significantly shorter disease-free survival compared to those without such mutations, with median survival times of 6.08 months versus 14.3 months (p = 0.0038). Conclusion The findings emphasize the necessity of molecular testing for accurate diagnosis of MPNST, which can guide optimal therapeutic options and highlight the need for tailored treatment strategies considering the heterogeneity of pathological phenotypes and molecular features among patients.https://doi.org/10.1007/s00432-025-06209-7MPNSTDifferential diagnosisMolecular featureActionable genes |
| spellingShingle | Qian Cui Fen Zhang Jian Liu Jie Xu Hongmei Wu Fangping Xu Qingling Zhang Genomic profiling and pathological assessment of malignant peripheral nerve sheath tumors Journal of Cancer Research and Clinical Oncology MPNST Differential diagnosis Molecular feature Actionable genes |
| title | Genomic profiling and pathological assessment of malignant peripheral nerve sheath tumors |
| title_full | Genomic profiling and pathological assessment of malignant peripheral nerve sheath tumors |
| title_fullStr | Genomic profiling and pathological assessment of malignant peripheral nerve sheath tumors |
| title_full_unstemmed | Genomic profiling and pathological assessment of malignant peripheral nerve sheath tumors |
| title_short | Genomic profiling and pathological assessment of malignant peripheral nerve sheath tumors |
| title_sort | genomic profiling and pathological assessment of malignant peripheral nerve sheath tumors |
| topic | MPNST Differential diagnosis Molecular feature Actionable genes |
| url | https://doi.org/10.1007/s00432-025-06209-7 |
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