[Supratentorial neuroepithelial tumor with PLAGL1 gene fusion - a new type of morphologically variable pediatric brain neoplasm defined by a distinct DNA methylation class. A case report and literature review]. / Supratentorial'naya neiroepitelial'naya opukhol' so sliyaniem gena PLAGL1 u detei ­ novyi tip opukholi mozga s raznoobraznoi morfologicheskoi kartinoi i otlichitel'nym metilyatsionnym profilem(sluchai iz praktiki i obzor literatury).

BACKGROUND: Methylation analysis has become a powerful diagnostic tool in modern neurooncology. This technique is valuable to diagnose new brain tumor types. OBJECTIVE: To describe the MRI and histological pattern of neuroepithelial tumor with PLAGL1 gene fusion. MATERIAL AND METHODS: We present a 6-year-old patient with small right frontal intraaxial tumor causing drug resistant epilepsy. Despite indolent preoperative clinical course and MRI features suggesting glioneuronal tumor, histological evaluation revealed characteristics of high-grade glioma, ependymoma and neuroblastoma. RESULTS: Methylation analysis of tumor DNA confirmed a new type of a recently discovered neoplasm - neuroepithelial tumor with PLAGL1 fusion (NET PLAGL1). PCR confirmed fusion of PLAGL1 and EWSR1 genes. No seizures were observed throughout the follow-up period. There was no tumor relapse a year after surgery. CONCLUSION: Methylation analysis in neurooncology is essential for unclear tumor morphology or divergence between histological and clinical data. In our case, this technique confirmed benign nature of tumor, and we preferred follow-up without unnecessary adjuvant treatment.

[Verification of the diagnosis of supratentorial ependymomas by real-time PCR]. / Verifikatsiya diagnoza supratentorial'nykh ependimom metodom PTsR v rezhime real'nogo vremeni.

BACKGROUND: Differential diagnosis of supratentorial ependymomas is of particular difficulty in neurooncology due to nonspecific clinical and radiographic findings, a rare seen «classic¼ morphological picture, and a nonspecific immunophenotype. Thanks to molecular genetic methods, in particular real-time PCR, it has become possible to verify supratentorial ependymomas and identify their molecular group, on which further prognosis depends. OBJECTIVE: To develop a set of molecular genetic tests based on real-time PCR to verify supratentorial ependymomas. MATERIAL AND METHODS: 56 tissue samples were collected from patients with supratentorial ependymomas, WHO Grade II, and anaplastic ependymomas, WHO Grade III. We developed primers and fluorescent TaqMan probes for real-time PCR analysis to detect the ZFTA::RELA, ZFTA::MAML2, ZFTA::NCOA2, ZFTA::MAML3, YAP1::MAMLD1, and YAP1::FAM118B gene fusions. For immunohistochemical analysis, monoclonal rabbit anti-NF-kb p65 antibodies (HUABIO, China) were used, the study was carried out on AutostainerLink 48 immunostainer (DAKO, Denmark). RESULTS: Real-time PCR was able to verify the diagnosis for 69.9% (n=39) of samples and classify them into molecular groups of ZFTA- or YAP1-positive supratentorial ependymomas. Immunohistochemically it was possible to verify 58% (n=29) ependymomas. CONCLUSION: Diagnosis by real-time PCR is a relatively fast, accessible and easily interpreted method that allows verification of the molecular group in 70% of cases of supratentorial ependymomas without the use of additional methods.

[Diffuse brainstem tumors in children. Tumor biology and hope for a better outcome. Current state of the problem]. / Diffuznye opukholi stvola golovnogo mozga u detei. Biologiya opukholi i nadezhda na luchshii iskhod. Sovremennoe sostoyanie problemy.

Diffuse brainstem tumor is a fatal disease and the main cause of child mortality from neoplasms of central nervous system. So far, no effective therapy has been found for this disease. The authors discuss the modern aspects of clinical data, biology, diagnosis and treatment of patients with diffuse brainstem tumors.

[Central nervous system atypical teratoid/rhabdoid tumor without loss of nuclear expression of INI1]. / Atipicheskaia teratoidno-rabdoidnaia opukhol' TsNS bez poteri iadernoi ékspressii INI1.

The paper describes a clinical case of atypical teratoid/rhabdoid tumor with preserved INI1 expression and SMARCA4 gene mutations in an 8-month-old girl. Genome-wide DNA methylation, hierarchical clustering, and next-generation sequencing were used to make a tumor diagnosis. However, BRG1 immunohistochemical examination may be recommended in the routine practice of diagnosis and study of childhood CNS malignant tumors.

[Placement of a ventricular catheter into narrow lateral ventricles. Popular navigation]. / Ustanovka ventrikuliarnogo katetera v uzkie bokovye zheludochki. Navigatsiia dlia vsekh.

Placement of a ventricular catheter is the most common and easiest procedure in neurosurgery. Usually, the procedure is performed using anatomical landmarks. However, despite the apparent ease of this manipulation, its results are not always satisfactory. According to the literature data, the rate of improperly placed ventricular catheters amounts to 10-40%, which is directly correlated with the risk of shunt dysfunction. The use of special equipment, such as ultrasound scanners, endoscopes, stereotactic devices, and neuronavigation systems, significantly increases success of surgery. However, the high cost and complexity of equipment confine its use at neurosurgical centers, and increased surgery time limits routine use of the equipment. A Thomale guide provides the accuracy comparable to that of modern navigation systems and, at the same time, is a cheap and easy-to-use device. AIM: To determine capabilities and master a technique of using the Thomale guide during placement of ventricular catheters. MATERIAL AND METHODS: Twenty seven surgeries wich Thomale guide were performed at the Rogachev Federal Research Center of Pediatric Hematology, Oncology, and Immunology in the period from April 2015 to November 2016. The Ommaya reservoir was placed in 23 cases; there were 2 ventriculoperitoneal shunting procedures; external ventricular drainage was placed in 2 cases. In 19 cases, the catheter was placed into narrow lateral ventricles. RESULTS: In all 27 cases, the ventricular catheter was successfully placed, at the first attempt, into the anterior horn of the lateral ventricle. CONCLUSION: The Thomale guide is a simple but reliable device for accurate and quick placement of a ventricular catheter into the lateral ventricles, regardless of their size.

[MRI diagnosis of spinal metastasis of medulloblastoma. A clinical case and literature review].

OBJECTIVE: the study objective was to improve the quality of detection of medulloblastoma metastases. MATERIAL AND METHODS: Magnetic resonance imaging (MRI) of the spinal cord in a child with medulloblastoma of the posterior cranial fossa, which was performed on the first day after surgery, detected contrast-positive thickenings of the meninges in the cervical, thoracic, and lumbar spinal cord that might be erroneously diagnosed as metastasis. These lesions spontaneously regressed within 3 weeks, which was verified by control MRI. CONCLUSION: In the case of misinterpretation of a MRI picture of contrast-positive thickenings of the meninges, a patient is erroneously regarded as having tumor metastases and is subject to more intensive treatment. However, the lesions spontaneously disappear or greatly reduce after 2-3 weeks. The article presents a case of this phenomenon, describes the putative mechanisms of its development, and provides recommendations for its differential diagnosis from metastases.

[The main principles of concept of development of palliative care to children and adolescents].

The article substantiates actuality of elaboration of the concept of development of palliative care of children and adolescents. The analysis of legislative and normative legal base, international documents, scientific studies related to this issue are analyzed. The situation in the regions ofthe Russian Federation is examined concerning organization of palliative care of children and its forms, provision of pharmaceuticals and specialized equipment and professional training of specialists. The demand of children population in palliative care in Russia is calculated according data of 2012. The results of carried out study are used as a basis of determining measures of development of system of palliative care of children and adolescents in the Russian Federation to propose as a foundation for the National concept as a necessary condition for organization of effective and efficient service.

[Characteristics of medulloblastoma in children under age of three years].

We present a series of 51 medulloblastoma in children under three years, collected in N.N. Burdenko Neurosurgical Institute from 2000 to 2010. 57% of the tumors showed desmoplastic/nodular histology. Performed fluorescence in situ hybridization (FISH) analysis revealed the MYC oncogene amplification in 4%, the MYCN oncogene amplification - in 8%, isochromosome 17q - in 16% of cases. 9q deletion was found in 8% of desmoplastic/ nodular medulloblastomas. Our results showed that desmoplastic/nodular medulloblastoma has a positive predictive value for progression-free survival. Another feature of a biology of medulloblastomas in children younger than three years is the lack of nuclear accumulation of beta-catenin, and 6q deletion. Medulloblastomas with MYCN oncogene amplification often exhibit desmoplastic/nodular histology and a relatively favorable outcome. The most unfavorable prognostic marker is the MYC oncogene amplification, which in our series of 100% combined with the large cell/anaplastic medulloblastoma and isochromosome 17q - such tumors should be included in the "high risk" protocol.