[The analysis of the association of the polymorphic variants of the TPMT, COMT, and ABCC3 genes with the development of hearing disorders induced by the cisplatin treatment]. / Analiz assotsiatsii polimorfnykh variantov genov TPMT, COMT i ABCC3 c razvitiem narusheniia slukha, indutsirovannogo priemom tsisplatina.

Cisplatin and its derivatives are widely used chemotherapeutic agents for the treatment of many cancers, including hepatoblastoma, brain tumors, and germ-cell tumors. This therapy contributed to the dramatic increase in the survival rate. However, its use is restricted by the high incidence of irreversible ototoxicity associated with cisplatin application (in more than 60% of the children receiving it). Some studies have reported that genetic variants of TPMT (rs 12201199), COMT (rs4646316), and ABCC3 (rs 1051640) are conferring increased risk of developing cisplatin-induced hearing loss. However, in other studies the results were not replicated. In the present study, we replicated the previous studies based on an independent cohort of Russian patients. SNP genotypes for rs 12201199, rs4646316 and rs 1051640 were determined in DNA samples obtained from 16 patients who developed hearing loss and a group of 34 patients whose hearing was retained. The association between TPMT (rs 12201199), COMT (rs4646316), and ABCC3 (rs 1051640) variants and the hearing loss was not observed in our cohort.

[Neurosurgical aspects of the treatment of neuroblastoma patients]. / Neirokhirurgicheskie aspekty lecheniya bol'nykh s neiroblastomoi.

Neuroblastoma (NB) is the most common extracranial solid tumor in children. The neoplasm grows from progenitor cells of the sympathetic nervous system and can be detected anywhere along the sympathetic neurological circuit: retroperitoneally, mediastinally, cervically, and pelvically. Examination of children with suspected neuroblastoma is comprehensive and performed in strict compliance with a therapeutic protocol. A decision on the treatment regimen is made based on the tumor staging and the risk group of the patient. The diagnosis and treatment of NB patients are comprehensive and can be fully carried out only at the pediatric oncology department. In 10-15% of cases, an hourglass tumor spreads to the intervertebral foramina or spinal canal at one or more levels. A tumor node is always located extradurally with respect to the spinal cord. Symptoms of spinal cord compression of various severity are observed in 5-7% of patients. We present several cases of patients with neuroblastoma with intraspinal extension. Despite apparent benefits of primary surgical decompression of the spinal cord, modern experience of treatment of children with intraspinal tumor extension does not reveal advantages of surgery over chemotherapy. Neurological disorders of various nature and severity persist in the majority of patients in the long-term period, regardless of primary treatment. A higher level of spinal deformities after surgical tumor resection is observed. The issue of spinal cord decompression should be discussed by the neurosurgeon and pediatric oncologist, and the most common method of choice may be chemotherapy. The article discusses the indications and contraindications for neurosurgical interventions in NB patients and addresses the issues of NB metastasis to the brain and cranial bones as well as the opsoclonus-myoclonus syndrome.

Incidence and survival of pediatric soft tissue sarcomas in moscow region, Russian Federation, 2000-2009.

The aim of the study was to assess the incidence and survival rates of soft tissue sarcomas (STSs) in children 0-14 years of age in Moscow Region, Russian Federation. The database of childhood population-based cancer registry of Moscow Region was used as a data source. Tumors were stratified according to International Classification of Childhood Cancer, 3d ed. Sixty-eight cases of STS were registered from 2000 to 2009. Crude incidence rate was 0,78, and age-standardized incidence rate using World Standard Population was 0,81 per 100.000 children/year. The highest age-specific incidence was observed in infants: 1,76 per 100.000 children/year. Rhabdomyosarcoma (RMS) was the most common histological type comprising 54,4% of all STS. 5-year observed survival (OS) of all patients with STS was 64,1 (95% CI 55,0-73,2). There was no statistically significant difference in OS between RMS-59,2 (95% CI 47,0-71,4) and nonrhabdomyosarcoma STS-69,3 (95% CI 55,8-82,8) (P = 0.63). Incidence and survival rates of STS observed in the study were comparable to the other Eastern European countries.

Study of genetic stability of human bone marrow multipotent mesenchymal stromal cells.

Immunophenotype, proliferation rate, and genetic stability parameters of bone marrow multipotent mesenchymal stromal cells were studied. Despite the reduction of proliferative activity by passages 11-12, the cells retained the characteristic immunophenotype. The incidence of spontaneous aneuploidy for autosomes 6, 8, 11 and sex chromosomes was evaluated. Two cultures of mesenchymal stromal cells carrying aneuploid cell clones were detected: with chromosome 8 trisomy and X chromosome monosomy. The results indicate the possibility of genetic transformation and selection of mesenchymal stromal cells with abnormal karyotype during in vitro culturing.