Significance of Mutation Spots and Concurrent Gene Mutations on Prognosis and Clinical Outcomes in Myelodysplastic Syndromes With SF3B1 Mutation
ABSTRACT Purpose To investigate the clinical characteristics and prognosis of mutation spots and concomitant gene mutations in myelodysplastic syndromes (MDS) with SF3B1 mutation (SF3B1mut). Patients and Methods Patients diagnosed with MDS at Shanghai Jiao Tong University School of Medicine Affiliat...
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2025-05-01
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| Online Access: | https://doi.org/10.1002/cam4.70930 |
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| author | Qi Liu Fanhuan Xu Juan Guo Feng Xu Xinhui Huang Jianan Chen Jiacheng Jin Liyu Zhou Qi He Dong Wu Luxi Song Zheng Zhang Cha Guo Jiying Su Yumei Zhang Meng Yan Chunkang Chang Xiao Li Lingyun Wu |
| author_facet | Qi Liu Fanhuan Xu Juan Guo Feng Xu Xinhui Huang Jianan Chen Jiacheng Jin Liyu Zhou Qi He Dong Wu Luxi Song Zheng Zhang Cha Guo Jiying Su Yumei Zhang Meng Yan Chunkang Chang Xiao Li Lingyun Wu |
| author_sort | Qi Liu |
| collection | DOAJ |
| description | ABSTRACT Purpose To investigate the clinical characteristics and prognosis of mutation spots and concomitant gene mutations in myelodysplastic syndromes (MDS) with SF3B1 mutation (SF3B1mut). Patients and Methods Patients diagnosed with MDS at Shanghai Jiao Tong University School of Medicine Affiliated Sixth People's Hospital from October 2008 to November 2023 were enrolled in this study. SF3B1mut was identified by next‐generation sequencing (NGS). Results One hundred and seven (8.7%) cases harbored the SF3B1 mutation. The most frequent SF3B1mut, noted in 47.66% of all patients, was the hotspot K700E. K666 and R625 were observed in 24.30% and 9.35%, respectively. Two less frequent mutation subtypes accounted for 5.61% of H662 and 4.67% of E622. Patients with the K666 mutation showed more severe thrombocytopenia (p = 0.032), significantly lower NK cell percentage (p = 0.001), and the Th1/Th2 ratio (p = 0.018) in the bone marrow (BM). The overall survival (OS) in patients with E622 and H662 mutations was significantly longer than that of patients with the R625 mutation (p = 0.045) and the K666 mutation (p = 0.010). Multi‐variance analysis showed the SF3B1 mutation involving the K666 hotspot independently predicted overall survival in MDS (HR 2.094, p = 0.050). Notably, most (11/13, 84.6%) of concomitant TP53 mutations were mono‐hit, which did not affect the survival of patients in our cohort. Conclusions SF3B1mut patients with specific mutation spots and concomitant gene mutations showed distinct clinical features and prognosis. Consequently, a comprehensive study of specific subtypes is of great significance for improving the prognosis of patients with SF3B1 mutations. |
| format | Article |
| id | doaj-art-a5fdb0c93d264556bdae49bbda5c3ee4 |
| institution | Matheson Library |
| issn | 2045-7634 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Wiley |
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| series | Cancer Medicine |
| spelling | doaj-art-a5fdb0c93d264556bdae49bbda5c3ee42025-07-01T07:21:33ZengWileyCancer Medicine2045-76342025-05-01149n/an/a10.1002/cam4.70930Significance of Mutation Spots and Concurrent Gene Mutations on Prognosis and Clinical Outcomes in Myelodysplastic Syndromes With SF3B1 MutationQi Liu0Fanhuan Xu1Juan Guo2Feng Xu3Xinhui Huang4Jianan Chen5Jiacheng Jin6Liyu Zhou7Qi He8Dong Wu9Luxi Song10Zheng Zhang11Cha Guo12Jiying Su13Yumei Zhang14Meng Yan15Chunkang Chang16Xiao Li17Lingyun Wu18Department of Hematology Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai ChinaDepartment of Hematology Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai ChinaDepartment of Hematology Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai ChinaDepartment of Hematology Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai ChinaDepartment of Hematology Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai ChinaDepartment of Hematology Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai ChinaDepartment of Hematology Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai ChinaDepartment of Hematology Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai ChinaDepartment of Hematology Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai ChinaDepartment of Hematology Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai ChinaDepartment of Hematology Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai ChinaDepartment of Hematology Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai ChinaDepartment of Hematology Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai ChinaDepartment of Hematology Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai ChinaDepartment of Hematology Shanghai Eighth People's Hospital Shanghai ChinaDepartment of Hematology Shanghai Eighth People's Hospital Shanghai ChinaDepartment of Hematology Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai ChinaDepartment of Hematology Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai ChinaDepartment of Hematology Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai ChinaABSTRACT Purpose To investigate the clinical characteristics and prognosis of mutation spots and concomitant gene mutations in myelodysplastic syndromes (MDS) with SF3B1 mutation (SF3B1mut). Patients and Methods Patients diagnosed with MDS at Shanghai Jiao Tong University School of Medicine Affiliated Sixth People's Hospital from October 2008 to November 2023 were enrolled in this study. SF3B1mut was identified by next‐generation sequencing (NGS). Results One hundred and seven (8.7%) cases harbored the SF3B1 mutation. The most frequent SF3B1mut, noted in 47.66% of all patients, was the hotspot K700E. K666 and R625 were observed in 24.30% and 9.35%, respectively. Two less frequent mutation subtypes accounted for 5.61% of H662 and 4.67% of E622. Patients with the K666 mutation showed more severe thrombocytopenia (p = 0.032), significantly lower NK cell percentage (p = 0.001), and the Th1/Th2 ratio (p = 0.018) in the bone marrow (BM). The overall survival (OS) in patients with E622 and H662 mutations was significantly longer than that of patients with the R625 mutation (p = 0.045) and the K666 mutation (p = 0.010). Multi‐variance analysis showed the SF3B1 mutation involving the K666 hotspot independently predicted overall survival in MDS (HR 2.094, p = 0.050). Notably, most (11/13, 84.6%) of concomitant TP53 mutations were mono‐hit, which did not affect the survival of patients in our cohort. Conclusions SF3B1mut patients with specific mutation spots and concomitant gene mutations showed distinct clinical features and prognosis. Consequently, a comprehensive study of specific subtypes is of great significance for improving the prognosis of patients with SF3B1 mutations.https://doi.org/10.1002/cam4.70930immunitymyelodysplastic syndromesprognosisSF3B1 gene |
| spellingShingle | Qi Liu Fanhuan Xu Juan Guo Feng Xu Xinhui Huang Jianan Chen Jiacheng Jin Liyu Zhou Qi He Dong Wu Luxi Song Zheng Zhang Cha Guo Jiying Su Yumei Zhang Meng Yan Chunkang Chang Xiao Li Lingyun Wu Significance of Mutation Spots and Concurrent Gene Mutations on Prognosis and Clinical Outcomes in Myelodysplastic Syndromes With SF3B1 Mutation Cancer Medicine immunity myelodysplastic syndromes prognosis SF3B1 gene |
| title | Significance of Mutation Spots and Concurrent Gene Mutations on Prognosis and Clinical Outcomes in Myelodysplastic Syndromes With SF3B1 Mutation |
| title_full | Significance of Mutation Spots and Concurrent Gene Mutations on Prognosis and Clinical Outcomes in Myelodysplastic Syndromes With SF3B1 Mutation |
| title_fullStr | Significance of Mutation Spots and Concurrent Gene Mutations on Prognosis and Clinical Outcomes in Myelodysplastic Syndromes With SF3B1 Mutation |
| title_full_unstemmed | Significance of Mutation Spots and Concurrent Gene Mutations on Prognosis and Clinical Outcomes in Myelodysplastic Syndromes With SF3B1 Mutation |
| title_short | Significance of Mutation Spots and Concurrent Gene Mutations on Prognosis and Clinical Outcomes in Myelodysplastic Syndromes With SF3B1 Mutation |
| title_sort | significance of mutation spots and concurrent gene mutations on prognosis and clinical outcomes in myelodysplastic syndromes with sf3b1 mutation |
| topic | immunity myelodysplastic syndromes prognosis SF3B1 gene |
| url | https://doi.org/10.1002/cam4.70930 |
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