Objective:To investigate the clinical characteristics and prognostic significance of germline mutations in patients with myelodysplastic neoplasms (MDS) .Methods:Clinical data from 407 patients with MDS [male, 252; female, 155; median age, 64 (range, 19-85) years] diagnosed at the First Affiliated Hospital of Zhejiang University School of Medicine were retrospectively analyzed. The clinical features and prognostic effects of germline mutations were evaluated.Results:The prevalence of germline mutations in patients with MDS was 5.9% (24/407), peaking at 20.0% in the group aged 21-30 years. The spectrum of germline mutations comprised DDX41 (9 cases, 2.2%), TP53 (3 cases, 0.7%), and single cases of RUNX1, TET2, MPL, CBL, ATRX, CEBPA, ETV6, IDH1, KDM5C, SBDS, GNAS, and CTC1. Patients with germline mutations exhibited significantly lower peripheral WBC counts than those without (1.87×10 9/L vs 2.50×10 9/L, P=0.018), but showed comparable median overall survival (21.3 months vs 21.1 months, P=0.97). Patients with DDX41 germline mutations, compared with those with other germline mutations, had a significantly older median age (65 vs 54 years, P=0.010), lower WBC counts (1.51×10 9/L vs 2.31×10 9/L, P=0.040), increased mean corpuscular volume (111.80 fl vs 97.25 fl, P=0.003), and a higher prevalence of normal karyotypes (100.0% vs 53.3%, P=0.022). The most frequently co-occurring somatic mutations in DDX41 germline mutation carriers were ASXL1, TET2, and RUNX1. Conclusion:In this study, the detection rate of germline mutations in MDS patients was 5.9% (24/407), peaking at 20% in the group aged 21-30 years. DDX41 and TP53 were the most prevalent germline mutations. DDX41 mutation carriers displayed distinct clinical characteristics; however, germline mutations overall showed no significant prognostic effect.

Objective:To investigate the clinical characteristics and prognostic significance of germline mutations in patients with myelodysplastic neoplasms (MDS) .Methods:Clinical data from 407 patients with MDS [male, 252; female, 155; median age, 64 (range, 19-85) years] diagnosed at the First Affiliated Hospital of Zhejiang University School of Medicine were retrospectively analyzed. The clinical features and prognostic effects of germline mutations were evaluated.Results:The prevalence of germline mutations in patients with MDS was 5.9% (24/407), peaking at 20.0% in the group aged 21-30 years. The spectrum of germline mutations comprised DDX41 (9 cases, 2.2%), TP53 (3 cases, 0.7%), and single cases of RUNX1, TET2, MPL, CBL, ATRX, CEBPA, ETV6, IDH1, KDM5C, SBDS, GNAS, and CTC1. Patients with germline mutations exhibited significantly lower peripheral WBC counts than those without (1.87×10 9/L vs 2.50×10 9/L, P=0.018), but showed comparable median overall survival (21.3 months vs 21.1 months, P=0.97). Patients with DDX41 germline mutations, compared with those with other germline mutations, had a significantly older median age (65 vs 54 years, P=0.010), lower WBC counts (1.51×10 9/L vs 2.31×10 9/L, P=0.040), increased mean corpuscular volume (111.80 fl vs 97.25 fl, P=0.003), and a higher prevalence of normal karyotypes (100.0% vs 53.3%, P=0.022). The most frequently co-occurring somatic mutations in DDX41 germline mutation carriers were ASXL1, TET2, and RUNX1. Conclusion:In this study, the detection rate of germline mutations in MDS patients was 5.9% (24/407), peaking at 20% in the group aged 21-30 years. DDX41 and TP53 were the most prevalent germline mutations. DDX41 mutation carriers displayed distinct clinical characteristics; however, germline mutations overall showed no significant prognostic effect.

Objective To observe the imaging findings of embryonal tumor with multilayered rosettes(ETMR).Methods MRI(n=8)and CT(n=6)data of 8 children with pathologically confirmed ETMR were retrospectively reviewed,and the imaging findings were analyzed.Results ETMR present as masses with the maximum diameter of 32-96 mm and clear edges in all 8 cases,located supratentorially in 5 and infratentorially in 3 cases.The supratentorial ETMR were giant cystic solid masses,while the infratentorial ETMR had relatively small volumes.No peritumoral edema was noticed.Cystic solid masses were observed in 6 cases,and the cystic portion presented as low T1WI and high T2WI signals at the edge of the masses.After administration of contrast agents,mild focal uneven enhancement in the solid portion was found in 5 cases,while 1 case was not found enhancement.Among the above 6 cases,the intratumoral bleeding and empty blood vessel shadows within the masses were observed each in 5 cases,while adjacent dura mater invasion was noticed in 3 cases.Two ETMR present as solid masses with focal nodular uneven enhancement,and the enhanced area corresponded to the low signal area on apparent diffusion coefficient(ADC)image,among them,increased choline(Cho)/creatine(Cr)and decreased N-acetyl aspartate(NAA)was found in 1 case.Limited diffusion on diffusion weighted imaging(DWI)were detected in all 8 cases.Among 6 cases who underwent CT scanning,patchy or punctate calcification,corresponding to the low signal area on MRI were detected in 4 cases.Conclusion ETMR mostly present as supratentorial large solid cystic masses with clear edges,and the cystic portion often located at the edge of masses,with characteristic vascular flow voids often accompanied by intratumoral bleeding and some with calcifications but without peritumoral edema,which showed significantly limited diffusion on DWI and weakly inhomogeneous enhancement of the solid part.

Objective:To evaluate the efficacy and safety of hypomethylating agents (HMA) in patients with myelodysplastic syndromes (MDS) .Methods:A total of 409 MDS patients from 45 hospitals in Zhejiang province who received at least four consecutive cycles of HMA monotherapy as initial therapy were enrolled to evaluate the efficacy and safety of HMA. Mann-Whitney U or Chi-square tests were used to compare the differences in the clinical data. Logistic regression and Cox regression were used to analyze the factors affecting efficacy and survival. Kaplan-Meier was used for survival analysis. Results:Patients received HMA treatment for a median of 6 cycles (range, 4-25 cycles) . The complete remission (CR) rate was 33.98% and the overall response rate (ORR) was 77.02%. Multivariate analysis revealed that complex karyotype ( P=0.02, OR=0.39, 95% CI 0.18-0.84) was an independent favorable factor for CR rate. TP53 mutation ( P=0.02, OR=0.22, 95% CI 0.06-0.77) was a predictive factor for a higher ORR. The median OS for the HMA-treated patients was 25.67 (95% CI 21.14-30.19) months. HMA response ( P=0.036, HR=0.47, 95% CI 0.23-0.95) was an independent favorable prognostic factor, whereas complex karyotype ( P=0.024, HR=2.14, 95% CI 1.10-4.15) , leukemia transformation ( P<0.001, HR=2.839, 95% CI 1.64-4.92) , and TP53 mutation ( P=0.012, HR=2.19, 95% CI 1.19-4.07) were independent adverse prognostic factors. There was no significant difference in efficacy and survival between the reduced and standard doses of HMA. The CR rate and ORR of MDS patients treated with decitabine and azacitidine were not significantly different. The median OS of patients treated with decitabine was longer compared with that of patients treated with azacitidine (29.53 months vs 20.17 months, P=0.007) . The incidence of bone marrow suppression and pneumonia in the decitabine group was higher compared with that in the azacitidine group. Conclusion:Continuous and regular use of appropriate doses of hypomethylating agents may benefit MDS patients to the greatest extent if it is tolerated.

Objective To observe MRI manifestations of angiocentric glioma(AG).Methods Twenty-one AG patients confirmed by pathology were retrospectively collected,and MRI manifestations were observed.Results Single AG lesion was detected in 18 cases,while multiple AG lesions were found in 3 cases(the largest lesions were selected for analysis).There were 5 cases of cortical swelling type and 16 cases of mass type(including solid component dominant type and cystic component dominant type)AG.Among 21 AG lesions,there were 20 supratentorial area lesions(20/21,95.24％),including 8 in frontal lobe,6 in temporal lobe,2 in parietal lobe,3 involved multicerebral lobes and 1 in lateral ventricle,whereas only 1 brainstem lesion was found(1/21,4.76％).On MR T1WI,all lesions showed slight hypo-intensity,and rim-like hyper-intensity was found in 10 lesions(10/21,47.62％).On T2WI,all lesions showed hyper-intensity,9 lesions(9/21,42.86％)extended to lateral ventricle("stem-like sign"),while 11 lesions(11/21,52.38％)present fissure-like hyper-intensity.Diffusion weighted imaging showed that 20 lesions(20/21,95.24％)had no obvious limited diffusion which was observed in 1 lesion(1/21,4.76％).On enhanced T1WI,14(14/21,66.67％)lesions showed no enhancement,5(5/21,23.81％)showed slightly enhancement and 2(2/21,9.52％)showed significant enhancement.Conclusion MRI manifestations of AG had certain characteristics.

Objective To observe MRI manifestations of angiocentric glioma(AG).Methods Twenty-one AG patients confirmed by pathology were retrospectively collected,and MRI manifestations were observed.Results Single AG lesion was detected in 18 cases,while multiple AG lesions were found in 3 cases(the largest lesions were selected for analysis).There were 5 cases of cortical swelling type and 16 cases of mass type(including solid component dominant type and cystic component dominant type)AG.Among 21 AG lesions,there were 20 supratentorial area lesions(20/21,95.24％),including 8 in frontal lobe,6 in temporal lobe,2 in parietal lobe,3 involved multicerebral lobes and 1 in lateral ventricle,whereas only 1 brainstem lesion was found(1/21,4.76％).On MR T1WI,all lesions showed slight hypo-intensity,and rim-like hyper-intensity was found in 10 lesions(10/21,47.62％).On T2WI,all lesions showed hyper-intensity,9 lesions(9/21,42.86％)extended to lateral ventricle("stem-like sign"),while 11 lesions(11/21,52.38％)present fissure-like hyper-intensity.Diffusion weighted imaging showed that 20 lesions(20/21,95.24％)had no obvious limited diffusion which was observed in 1 lesion(1/21,4.76％).On enhanced T1WI,14(14/21,66.67％)lesions showed no enhancement,5(5/21,23.81％)showed slightly enhancement and 2(2/21,9.52％)showed significant enhancement.Conclusion MRI manifestations of AG had certain characteristics.

Pituitary adenoma is the third most common primary central nervous system tumor in adults.Radiomics can explore and analyze massive quantitative features in medical images,and has been used in the precise diagnosis and treatment of pituitary adenomas.The research progresses of MRI radiomics in pituitary adenoma were reviewed in this article.