1.Impact of DNMT3A,FAT1,IL-7R Gene Mutations on the Prognosis of Allo-HSCT in MDS Patients with Normal Karyotype
Journal of Modern Laboratory Medicine 2025;40(5):82-87
Objective Study on the effect of DNA methyltransferase 3A(DNMT3A),fat atypical cadherin 1(FAT1),and interleukin-7 receptor(IL-7R)gene mutations on the prognosis of patients with myelodysplastic syndrome(MDS)undergoing allogeneic hematopoietic stem cell transplantation(allo-HSCT)treatment with normal karyotype.Methods A single-center retrospective cohort method was used to analyze the clinical data of 380 patients with MDS with normal karyotype who received allo-HSCT to the Department of Hematology,Handan First Hospital from January 2021 to December 2023.Next-generation sequencing(NGS)was used to analyze the gene mutation profile of patients.According to the gene sequencing results,patients with any gene mutation in DNMT3A,FAT1 and IL-7R were classified as mutant group(n=61),and the remaining patients without the above mutation were included in the wild type group(n=319).The clinical characteristics of mutant and wild type patients were analyzed.Kaplan-Meier method was used to analyze the cumulative survival of mutant and wild-type patients,and Log Rank test was used to compare the differences between groups.According to the follow-up outcome,the patients were divided into death group(n=130)and survival group(n=250).Univariate and multivariate COX regression analysis of the factors affecting the overall survival time of MDS patients after allo-HSCT treatment.Results Among 380 patients with normal MDS,16.05%(61/380)were mutant.Compared with the wild type,the mutant's age years old,mean platelet volume(MPA)and IL-6 levels were significantly increased,and the differences were statistically significant(t=7.320,23.774,17.838,all P<0.05).There was no significant difference in overall survival(OS)rate between mutant group and wild-type group patients(59.02%vs 67.08%),and the difference was statistically significant(Log rank χ2=1.610,P>0.05).Age,sex,IL-6,DIF gene mutation,MPV,and bone marrow original cell ratio were the factors influencing the overall survival time of MDS patients after allo-HSCT treatment(t/χ2=5.286~42.498,all P<0.05).COX regression analysis showed that bone marrow original cell ratio≥50%was an independent risk factor for overall survival of MDS patients after allo-HSCT treatment(95%CI:1.046~2.829,HR=1.734,P=0.026).Conclusion DNMT3A,FAT1 and IL-7R gene mutations have no significant effect on the overall survival of MDS patients with normal karyotype treated with allo-HSCT,and the proportion of bone marrow original cells is higher than 50%as an independent risk factor.
2.Impact of DNMT3A,FAT1,IL-7R Gene Mutations on the Prognosis of Allo-HSCT in MDS Patients with Normal Karyotype
Journal of Modern Laboratory Medicine 2025;40(5):82-87
Objective Study on the effect of DNA methyltransferase 3A(DNMT3A),fat atypical cadherin 1(FAT1),and interleukin-7 receptor(IL-7R)gene mutations on the prognosis of patients with myelodysplastic syndrome(MDS)undergoing allogeneic hematopoietic stem cell transplantation(allo-HSCT)treatment with normal karyotype.Methods A single-center retrospective cohort method was used to analyze the clinical data of 380 patients with MDS with normal karyotype who received allo-HSCT to the Department of Hematology,Handan First Hospital from January 2021 to December 2023.Next-generation sequencing(NGS)was used to analyze the gene mutation profile of patients.According to the gene sequencing results,patients with any gene mutation in DNMT3A,FAT1 and IL-7R were classified as mutant group(n=61),and the remaining patients without the above mutation were included in the wild type group(n=319).The clinical characteristics of mutant and wild type patients were analyzed.Kaplan-Meier method was used to analyze the cumulative survival of mutant and wild-type patients,and Log Rank test was used to compare the differences between groups.According to the follow-up outcome,the patients were divided into death group(n=130)and survival group(n=250).Univariate and multivariate COX regression analysis of the factors affecting the overall survival time of MDS patients after allo-HSCT treatment.Results Among 380 patients with normal MDS,16.05%(61/380)were mutant.Compared with the wild type,the mutant's age years old,mean platelet volume(MPA)and IL-6 levels were significantly increased,and the differences were statistically significant(t=7.320,23.774,17.838,all P<0.05).There was no significant difference in overall survival(OS)rate between mutant group and wild-type group patients(59.02%vs 67.08%),and the difference was statistically significant(Log rank χ2=1.610,P>0.05).Age,sex,IL-6,DIF gene mutation,MPV,and bone marrow original cell ratio were the factors influencing the overall survival time of MDS patients after allo-HSCT treatment(t/χ2=5.286~42.498,all P<0.05).COX regression analysis showed that bone marrow original cell ratio≥50%was an independent risk factor for overall survival of MDS patients after allo-HSCT treatment(95%CI:1.046~2.829,HR=1.734,P=0.026).Conclusion DNMT3A,FAT1 and IL-7R gene mutations have no significant effect on the overall survival of MDS patients with normal karyotype treated with allo-HSCT,and the proportion of bone marrow original cells is higher than 50%as an independent risk factor.
3.Dynamic assessment of the dose perturbation by sliding rails in intensity-modulated radiotherapy for spinal metastases
Bo LI ; Mingsong ZHONG ; Huanli LUO ; Shi LI ; Fu JIN
Chinese Journal of Radiological Medicine and Protection 2022;42(10):759-764
Objective:To investigate the impact of carbon based non-conductive sliding rails on intensity-modulated radiation therapy (IMRT) planning for vertebral tumors.Methods:A reconstruction imaging of the couch plate and its rails removed from the EDGE linear accelerator was acquired by helical computed tomography (CT), and pushed into the treatment planning system (TPS). Based on CT images of homogeneous phantom and patients in our database, 6 and 10 MV photon IMRT plans were designed with five fields (180°, 200°, 220°, 160°, 140°), setting a prescribed dose of 3 Gy/F ×10 F to the planning target volume (PTV), and the dose was calculated by AcruosXB. In addition, optimization plans (OP) without rails and with rails symmetrically moving (4-19 cm, step size 1 cm) were created and verification plans(VP) were created by inserting and removing slide rail′s structure from the corresponding OP in VP. The differences in mean dose ( Dmean), homogeneity index (HI), and conformability index (CI) of the PTV, and maximum dose ( Dmax) of the spinal cord were compared and analyzed between the VP and OP. Results:HI of PTV with and without the rails were worse in the 6/10 MV verification plans, with a maximum difference of 2%. In 6 MV plans, with rails Dmean of PTV decreased by (2.07±0.99)%, CI increased by (4.91±3.12)%, and Dmax of spinal cord decreased by (1.83±1.37)%. Without rails, the Dmean of PTV increased by (2.02±0.96)%, but CI decreased by (3.07±1.31)% and Dmax of the spinal cord increased by (2.03±1.44)% in the patient respectively. There were significant statistical differences between groupswith and without rails( F=27.55, 361.32, 13.05, P<0.05). The target volume Dmean and spinal cord Dmax decreased with a sloping " W" with the change of the rail position. The difference appeared to be noticeable in the range of less than 10 cm, but it gradually decreased as the rails slid to the outside until it reached zero, and the Dmean of PTV and Dmax of the spinal cordchanges were less in 10 MV plans, comparing to 6 MV plans. Conclusions:The dose attenuation by the sliding rails of the Qfix kVue should not ignored in the IMRT of spinal metastases and the slide position should be consistent with the planned position.
4.Preliminary study of in vivo dose measurement of intensity-modulated radiotherapy for cervical cancer
Xia TAN ; Huanli LUO ; Ying WANG ; Mingsong ZHONG ; Xianfeng LIU ; Shi LI ; Xiumei TIAN ; Guang LI ; Bo LI ; Zhengwen SHEN ; Yingchao XU ; Fu JIN
Chinese Journal of Radiation Oncology 2020;29(9):784-789
Objective:To monitor and evaluate in vivo dose changes of intensity-modulated radiotherapy (IMRT) in patients with cervical cancer in a real-time manner. Methods:Twelve patients with cervical cancer admitted to our hospital were enrolled in this study. The in vivo doses were monitored by PerFRACTION?. Electronic portal imaging device (EPID) were collected in each treatment fraction for two-dimensional in vivo dose verification[γ index and dose difference (DD) index]. Log files were recorded for three-dimensional in vivo dose verification (γ index). The correlation between in vivo dose and treatment duration was analyzed by Pearson correlation analysis. Results:A total of 206 sets of EPID images and corresponding Log files were collected. The three-dimensional in vivo dose verification γ 1%/1mm of all patients was not correlated with treatment fraction ( P>0.05). Among them, the absolute difference of γ 1%/1mm of 94.66% fractions was< 1%. The mean DD 3% of two-dimensional in vivo dose verification of all patients was negatively correlated with treatment fraction ( P<0.05). Among which, the average γ 3%/3mm of 9 patients was>89% in the treatment fractions, and the average γ 3%/3mm of 98.57% fractions of these 9 patients was>93%. The other 3 patients had an average γ 3%/3mm ranged from 38% to 100%. CBCT images showed that the bladder volume of these 3 patients was significantly decreased with the relative changes by 82.08%, 84.41% and 73.59%, respectively, and the target area was retracted significantly with the relative changes by 38.12%, 59.79% and 24.46%, respectively. Conclusion:Combined with γ index and DD index, PerFRACTION? can monitor the mechanical stability of accelerator and MU delivery accuracy during treatment fractions, and monitor the changes of in vivo dose in patients with cervical cancer, which can improve the safety and quality assurance of IMRT for cervical cancer patients and provide guidance for patients with adaptive radiotherapy.

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