Mutations in genes encoding isocitrate dehydrogenase isoforms 1 (IDH1) and 2 (IDH2) have been associated with good prognosis for patients with brain neoplasias and have been commonly found together with mutated TP53 gene. To determine the prevalence of IDH1, IDH2, and TP53 mutations and their impact on overall survival 106 glioblastoma patients were analysed. IDH1 mutations were detected in 13 and IDH2 mutation in one patient. Two homozygous samples with R132H mutation in IDH1 gene and a novel aberration K129R in IDH2 gene were found. Sixty-four percent of IDH1/IDH2 mutated tumours harboured also a mutation in TP53 gene. Genetic aberrations in TP53 were present in 37 patients. Statistical analysis of the impact of the studied factors on the overall survival showed that the mutations in IDH1/IDH2, but not the ones in TP53, were associated with longer survival. Also, the impact of age on prognosis was confirmed. This is the first comprehensive study on glioblastomas in Bulgaria. Our results suggest that IDH1/IDH2 but not TP53 mutations together with other prognostic factors such as age might be applied in clinical practice for prediction of outcome in patients with glioblastomas.

Pleuropulmonary blastoma (PPB) is a rare and potentially aggressive intrathoracic disembryonic neoplasm typically occurring in children less than 6 years of age. We assessed the relative incidence, clinical characteristics, treatment outcome, and the prognostic factors for long-term survival in patients with PPB treated at our institution over a 25-year period, and compared these data with reports in the literature. From 1985 to 2010, 11 children (4 males and 7 females), with a median age of 5.4 years (range, 1-12 years) were treated at our hospital. Here we described the main characteristics of these patients, the diagnostic methods, and treatment modalities used. During a median follow-up period of 80, 9 months, the overall survival (OS) and disease-free survival (DFS) rates were 54, 6% and 45, 5%, respectively. Two patients survived for more than 20 years. The main prognostic factors for long-term survival were the diseases type I and II and treatment with radical surgery. Our results show that in order to improve the prognosis of patients with PPB a timely in our opinion and accurate diagnosis needs to be established and treatment should be offered according to the disease type and extend of dissemination.

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Background: Esophageal adenocarcinoma (EAC) has an extremely poor prognosis. There is a need to characterize the molecular alterations in the carcinogenesis of EAC in order to improve the diagnosis and treatment. Materials and Methods: We used 7 markers to explore the changes in the cell cycle, proliferation and apoptosis in patients with EAC and Barrett's esophagus (BE)-associated dysplasia. The protein expression of Ki-67, PCNA, pRb, p16, p53, Bcl-2 and Bax was evaluated by immunohistochemistry in archival tissue samples, collected from 15 patients with EAC and 5 patients with BE-associated dysplasia. We analyzed also lymph-node, omentum and liver metastases from the primary esophageal tumors. Results: Ki-67, PCNA, pRb, p16, p53, Bcl-2 and Bax expression was observed in 100%, 87%, 60%, 40%, 100%, 7% and 93% of tumor samples, and in 100%, 80%, 0%, 80%, 80%, 20% and 100% of dysplasia samples, respectively. Significant difference in the expression of the markers between EAC and BE-associated dysplasia was detected for pRb (p = 0.006). Ki-67 expression was associated with clinicopathological parameter T (p = 0.012; V = 0.585). Ninefold higher risk to develop EAC was established for the patient with strong p53 expression, than the lacking p53 patient. Patients with strong p53 expression survived 6.8 months longer than the patients with weak p53 expression and 8.6 months longer than the patients with moderate p53 expression. No correlation was found between the expression of the other markers and prognosis. Conclusion: The results suggest that Ki-67, PCNA, pRb, p16, p53 and Bax participate in the pathogenesis of EAC, whereas Bcl-2 does not play essential role in EAC and BE-associated dysplasia. The balance between cell proliferation and apoptosis is lost in EAC and BE-associated dysplasia. Abnormal p53 protein expression has predictive and prognostic value in EAC. Larger prospective studies are needed to confirm these findings.