A Rare Co-Occurrence of Maffucci Syndrome and Astrocytoma with IDH1 R132H Mutation: A Case Report.

Background: Maffucci syndrome is a rare genetic disorder associated with the development of multiple enchondromas and soft tissue cavernous hemangiomas, as well as an increased risk of malignant tumors. Case Description: Here we report a case of Maffucci syndrome in a patient who presented with a giant left frontal lobe tumor. Molecular genetic analysis of the tumor revealed an isocitrate dehydrogenase (IDH) mutation p.R132H (c.395C>A) mutation in the IDH1 gene and a heterozygous duplication of the CDKN2A genes. Conclusions: The presence of an IDH1 mutation is notable because this mutation is frequently seen in glial tumors and other neoplasms, and its co-occurrence with Maffucci syndrome may represent a novel risk factor for the development of gliomas. This case underscores the importance of genetic testing in patients with Maffucci syndrome who present with central nervous system tumors, as well as the need for further research to understand the relationship between IDH1 mutations and the development of gliomas in this population.

Isocitrate dehydrogenase 1 mutation is associated with reduced levels of inflammation in glioma patients.

Background: Glioma patients with mutant isocitrate dehydrogenase have improved survival; this could be in part due to the suppressive effect of mutant IDH on the level of chronic inflammation. This study aimed to prospectively analyze the association of IDH1 mutation status with preoperative levels of blood inflammatory markers: neutrophil-lymphocyte ratio (NLR), platelet-lymphocyte ratio (PLR), C-reactive protein (CRP), and red cell distribution width (RDW) in gliomas. Patients and methods: Receiver operating characteristic curves for cutoff value determination, various bivariate tests, and survival analyses (Kaplan-Meier curves and Cox regression) were performed. Results: Patients with mutant IDH1 had reduced levels of NLR (P<0.032) and CRP (P<0.008). Moreover, these patients showed better median overall survival compared to those without IDH1 mutation (P<0.000). In univariate analysis, IDH1 mutation status (P<0.000), NLR (P<0.000), PLR (P<0.008), and CRP (P<0.001) were among the factors associated with survival. By multivariate analysis, IDH1 mutation (P<0.044) and NLR<2.65 (P<0.022) remained independent factors associated with better survival; other independent variables were tumor grade (P<0.000) and location in noneloquent area (P<0.015). Conclusion: The obtained results show that IDH1 mutation is associated with lower levels of chronic inflammation that could account for an improved prognosis in this group of patients.

Association of preoperative levels of selected blood inflammatory markers with prognosis in gliomas.

BACKGROUND: Red cell distribution width (RDW), neutrophil-lymphocyte ratio (NLR), and platelet count (PLT) routinely tested as part of the complete blood count are indicative of systemic inflammation. The prognostic significance of NLR and PLT in cancer was demonstrated in many studies while the role of RDW has been hardly investigated. The present study aimed to assess the association of RDW, NLR, and PLT with survival and tumor grade in glioma patients. METHODS: Clinical data from 178 patients with primary gliomas treated in a single institution were retrospectively analyzed. Receiver operating characteristic curves for cutoff value determination, Kaplan-Meier survival analysis, various bivariate tests, and univariate and multivariate Cox regression analyses were performed. RESULTS: Patients with high RDW (≥13.95) and NLR (≥4) levels had worse overall survival (OS) (Wilcoxon test, P<0.026 and P<0.003, respectively) while the effect of thrombocytosis (≥400×109/L) on prognosis was not significant. Besides, a strong association between RDW and NLR was found (Spearman's rho =0.230, P<0.02; χ2=8.887, P<0.03; Mann-Whitney U-test, P<0.017). Moreover, RDW and NLR were significantly associated with tumor grade. In univariate Cox analysis, elevated NLR (hazard ratio, HR 1.385; confidence interval, CI 1.020-1.881, P<0.037), older age (HR 0.452, CI 0.329-0.621, P<0), and higher tumor grade (HR 1.624, CI 1.187-2.223, P<0.002) were associated with poor outcomes. In the multivariate analysis, tumor grade, age, and Karnofsky performance score were identified as being independently prognostic for OS. CONCLUSION: Preoperative NLR and RDW values can help to evaluate disease progression and outcomes in patients with gliomas, thereby contributing to patient follow-up optimization.