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Introduction: The aim of the study was to analyze monosomal karyotype (MK) occurrence and the relationship between MKs and complex karyotypes (CKs) and to determine the prognostic significance of MKs in MDS patients based on conventional cytogenetic (CC) and fluorescence in situ hybridization (FISH) analyses. Methods: CC and FISH analyses were conducted for 216 primary MDS patients. Follow‐ups and statistical analysis were conducted. Results: A total of 25 (11.6%) patients with MKs were identified by FISH and CC analyses, and 23 (92%) of these MKs were also CKs. Only 19 patients (8.8%) with MKs were identified by CC analysis. Patients with MKs had higher bone marrow (BM) blast counts (P = 0.006), incidence of very high risk according to International Prognostic Scoring System‐Revised (IPSS‐R) (P < 0.001), leukemic transformation (P = 0.003,) and death rates (P < 0.001) than those without MKs. Overall survival (OS) and progression‐free survival (PFS) of MK or CK patients which were additionally detected by FISH and CC analyses had no statistical significance with those MK or CK patients detected by CC analyses separately. Multivariate analysis indicated that MK (P < 0.001), blast in BM (P < 0.001) and age (P = 0.028) were inferior independent prognostic factors in OS, whereas CK (P = 0.003) was the inferior independent prognostic factor in PFS. Conclusion: The MDS FISH panel may provide additional information for defining MKs beyond CC analysis. MK was an important indicator of OS in MDS patients, and CK indicated inferior disease progression but did not influence OS according to CC and FISH analyses. [ABSTRACT FROM AUTHOR]

Background: The overall survival (OS) for patients with recurrent glioma is meager. Also, the effect of radionecrosis and prognostic factors for recurrent glioma remains controversial. In this regard, developing effective predictive models and guiding clinical care is crucial for these patients. Methods: We screened patients with recurrent glioma after radiotherapy and those who received surgery between August 1, 2013, and December 31, 2020. Univariate and multivariate Cox regression analyses determined the independent prognostic factors affecting the prognosis of recurrent glioma. Moreover, nomograms were constructed to predict recurrent glioma risk and prognosis. Statistical methods were used to determine the prediction accuracy and discriminability of the nomogram prediction model based on the area under the curve (AUC), the C-index, the decision curve analysis (DCA), and the calibration curve. In order to distinguish high-risk and low-risk groups for OS, the X-Tile and Kaplan-Meier (K-M) survival curves were employed, and the nomogram prediction model was further validated by the X-Tile and K-M survival curves. Results: According to a Cox regression analysis, independent prognostic factors of recurrent glioma after radiotherapy with radionecrosis were World Health Organization (WHO) grade and gliosis percentage. We utilized a nomogram prediction model to analyze results visually. The C-index was 0.682 (95% CI: 0.616–0.748). According to receiver operating characteristic (ROC) analysis, calibration plots, and DCA, the nomogram prediction model was found to have a high-performance ability, and all patients were divided into low-risk and high-risk groups based on OS (P <.001). Conclusion: WHO grade and gliosis percentage are prognostic factors for recurrent glioma with radionecrosis, and a nomogram prediction model was established based on these two variables. Patients could be divided into high- and low-risk groups with different OS by this model, and it will provide individualized clinical decisions for future treatment. [ABSTRACT FROM AUTHOR]

Purpose. Gliosarcoma is a histopathological variant of glioblastoma, which is characterized by a biphasic growth pattern consisting of glial and sarcoma components. Owing to its scarcity, data regarding the impact of available treatments on the clinical outcomes of gliosarcoma are inadequate. The purpose of this retrospective cohort study was to analyze the prognostic factors of gliosarcoma. Methods. By screening the clinical database of neurosurgical cases at a single center, patients with gliosarcoma diagnosed histologically from 2013 to 2021 were identified. Clinical, pathological, and molecular data were gathered founded on medical records and follow-up interviews. Prognostic factors were derived using the Cox proportional hazards model with backward stepwise regression analysis. Results. Forty-five GSM patients were included. Median overall survival was 25.6 months (95% CI 8.0–43.1), and median relapse-free survival was 15.2 months (95% CI 9.7–20.8). In multivariable analysis, total resection (p = 0.023 , HR = 0.192 , 95% CI 0.046–0.797) indicated an improved prognosis. And low expression of Ki-67 (p = 0.059 , HR = 2.803 , 95% CI 0.963–8.162) would be likely to show statistical significance. However, there might be no statistically significant survival benefit from radiotherapy with concurrent temozolomide (n = 33 , 73.3%, log-rank p = 0.99) or adjuvant temozolomide (n = 32 , 71.1%, log-rank p = 0.74). Conclusion. This single-center retrospective study with a limited cohort size has demonstrated the treatment of gross total resection and low expression of Ki-67 which are beneficial for patients with GSM, while radiotherapy or temozolomide is not. [ABSTRACT FROM AUTHOR]

The aim of the present study was to examine the associations between 112 acute myeloid leukaemia (AML)-associated genes and the prognosis and clinical features of AML using bioinformatics analysis in 62 patients with AML. A total of 61 gene mutations were identified, and ≥1 mutations were detected in 96.77% of the patients. A total of 11 frequent mutations were identified, including nucleophosmin 1 (NPM1), Fms related tyrosine kinase 3 (FLT3), DNA methyltransferase 3α (DNMT3A) and Notch 2 (NOTCH2), with a mutation rate of ≥10%. The FLT3 mutation was significantly associated with the white blood cell count at the time of diagnosis, and DNMT3A was significantly associated with the French-American-British subtype and cytogenetics of patients with AML. The FLT3, NPM1 and DNMT3A mutations were significantly associated with a poor overall survival (OS) in patients with AML. In addition, the co-mutation of DNMT3A-CCAAT enhancer binding protein α (CEBPA) was observed to be significantly associated with a poor OS in patients with AML. Furthermore, the functional enrichment analysis revealed that the co-mutations of FLT3-NOTCH2, SETBP1-CREBBP and DNMT3A-CEBPA were significantly enriched in processes of 'negative regulation of cell differentiation' and 'immune system development', indicating that these mutations may serve crucial roles in the diagnosis and treatment of AML. [ABSTRACT FROM AUTHOR]

Background: Genomic sequencing technologies have identified isocitrate dehydrogenase ( IDH ) mutations in haematological malignancies. The prognostic implications of somatic IDH mutation ( mIDH ) in myelodysplastic syndromes (MDS) remain controversial. Methods: Mutations in IDH1 and IDH2 were detected using genomic sequencing technologies in 97 patients with MDS. Results: Seven (7.2%) mutations were identified: 3 in IDH1 (all R132C) and 4 in IDH2 (3 R140Q and 1 R140L). The frequency of mutation was 16.6% (2/12) in refractory anaemia with excess blasts (RAEB)-1 and 14.7% (5/34) in RAEB-2. IDH1 / 2 mutations were closely associated with higher bone marrow blast counts (median 10.0 vs. 2.3%; p = 0.019) and lower absolute neutrophil counts (median 0.44 x 10 9 /L vs. 1.21 x 10 9 /L; p = 0.027). All IDH mutations were mutually exclusive and heterozygous. IDH mutations were not significantly correlated with any specific karyotype. Patients with IDH1 mutations exhibited shorter overall and progression-free survival (OS and PFS; p = 0.039 and p = 0.042, respectively), whereas IDH2 mutations did not affect OS or PFS ( p = 0.560 and p = 0.218, respectively). Multivariate analysis indicated that IDH1 mutation ( p = 0.018; hazard ratio [HR] 4.735; 95% confidence interval [CI] 1.299-17.264), karyotype risk ( p = 0.036; HR 1.619; 95% CI 1.033-2.539) and the revised International Prognostic Scoring System risk category ( p < 0.0001; HR 2.122; 95% CI 1.401-3.213) were independent inferior prognostic factors. Conclusions: IDH1 mutation is associated with a poor prognosis. [ABSTRACT FROM AUTHOR]