A5039901009- Glioma Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Brain Metastases and Treatment
- Ocular Oncology and Treatments
- Cancer Genomics and Diagnostics
- Cancer, Hypoxia, and Metabolism
- Sarcoma Diagnosis and Treatment
- Ubiquitin and proteasome pathways
- Hippo pathway signaling and YAP/TAZ
- Cancer Research and Treatments
- Cutaneous Melanoma Detection and Management
- Molecular Biology Techniques and Applications
- Metabolism and Genetic Disorders
- Diet, Metabolism, and Disease
- Microtubule and mitosis dynamics
- Cancer-related Molecular Pathways
- Cancer therapeutics and mechanisms
- Chromatin Remodeling and Cancer
- Genomics and Rare Diseases
- ATP Synthase and ATPases Research
- Renal and related cancers
- Neurofibromatosis and Schwannoma Cases
- Tumors and Oncological Cases
- Liver Disease Diagnosis and Treatment
- Cystic Fibrosis Research Advances
Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology
2019-2025
Ministry of Health of the Russian Federation
2020-2023
Despite the progress in understanding pathogenesis of diffuse brainstem tumors, treatment these neoplasms is usually empirical and conducted without morphological molecular verification. Liquid biopsy a minimally invasive technique providing data on tumor biology standard biopsy. This method based analysis cell-free nucleic acids (predominantly, extracellular DNA) biological fluids with detection specific mutations. wide implementation diagnosis disease monitoring extracranial malignancies,...
Abstract: Nonmelanoma malignancies associated with congenital melanocytic nevi (CMN) are extremely rare, only 12 reported cases of rhabdomyosarcoma (RMS) to date. We present 2 additional RMS arising in giant CMN, immunohistochemical and molecular biologic investigations. The first case was a 32-year-old woman personal history melanoma CMN who, after successful treatment long remission, presented new 1-cm nodule within the CMN. Microscopically, atypical areas exhibited round cell/alveolar...
Cell-free DNA (cfDNA) in body fluids is invaluable for cancer diagnostics. Despite the impressive potential of liquid biopsies diagnostics central nervous system (CNS) tumors, a number challenges prevent introducing this approach into routine laboratory practice. In study, we adopt protocol sensitive detection H3 K27M somatic variant cerebrospinal fluid (CSF) by using digital polymerase chain reaction (dPCR). Optimization was carried out stepwise, including preamplification target region and...
PURPOSE Midline low-grade gliomas (mLGGs) of early childhood have a poorer prognosis compared with tumors other localizations and in older patients. LGGs are associated aberrant activation RAS-RAF-MEK pathway, pharmacological inhibition the pathway has therapeutic promise. The aim this study was clinical molecular characterization infantile mLGGs, emphasis on efficacy targeted kinase inhibition. PATIENTS AND METHODS This enrolled 40 patients mLGG age <3 years. majority (30/40) received...
Choroid plexus carcinomas (CPCs) are rare aggressive pediatric tumors of the brain with no treatment standards. Genetic profiling CPCs is often confined to possible association Li-Fraumeni syndrome, though only about a half develop from syndromic predispositions. Whole-chromosome gains and losses typical reflect genomic instability these tumors, but partially explain clinical course.This retrospective study enrolled 25 patients CPC, receiving between January 2009 June 2022. Molecular-genetic...
An 11-year-old previously healthy girl presented with acute cerebral symptoms in the form of headache and vomiting two to three times a day, bringing relief. MRI brain revealed pathological cystic formation left frontoparietal region, an oval shape clear, partly uneven outlines total size 35 × 44 31 mm, intensively accumulating contrast agent along periphery. The lesion exerted pronounced mass effect, displacing median structures right by 9 mm squeezing lateral ventricle (Figure 1). patient...
Gliomas are the most common central nervous system tumors demonstrating an extremely broad range of clinical behavior. Over last few decades understanding molecular genetic mechanisms tumor initiation and progression increased significantly. Furthermore, identification prognostic predictive biomarkers aids development personalized risk-adapted therapeutic approaches. In this review, we summarize findings in pediatric gliomas, both low high grade (LGG HGG), focusing on recurrent somatic...
Here we report a boy with disseminated choroid plexus carcinoma diagnosed at an age of 2 years 9 months on the background de novo germline mutation in ТР53. The patient received 3 cycles high-dose methotrexate-based chemotherapy and 4 alternating carboplatin/cyclophosphamide chemotherapy, followed by craniospinal proton beam irradiation. To date, lives neither progression disease nor other extracranial neoplasms for 6 from diagnosis. This is first successful experience irradiation therapy...
Abstract BACKGROUND The prognosis for patients with pediatric high-grade glioma (pHGG) is poor despite aggressive multimodal therapy. Recent advances in understanding tumor biology facilitate utilization of targeted therapies (TT) neuro-oncology. METHODS We analyzed the efficacy therapy progressive pHGG treated TT according to molecularly-identified actionable events. Molecular characterization included DNA panel and transcriptomic RNA sequencing. RESULTS Eighteen were (median age 3.7 years,...
Abstract We analyzed an infant cohort consisting of 14 patientswith hemispheric gliomas (hHGG, n=10 and DIGG, n=4) diagnosed at D. Rogachev Center between 2017and 2022. The hHGG included nine females one male ranging in age from week to 22 months. RTK-fusions were detected all (ROS1 - 4, ALK 2,NTRK1 – 2, NTRK3 1, EGFR 1). In thesecases, the diagnosis was made retrospectively a patient initially with anaplastic ependymoma who died during treatment. Out remaining patients, four 3, NTRK3-1)...
Low grade gliomas (LGGs) are the most common brain tumors in children. Our retrospective-prospective study of biological characteristics sporadic LGGs (not associated with neurofibromatosis type I) included 233 patients aged 0 to 18 years who had been diagnosed and/or treated at Dmitry Rogachev National Medical Research Center Pediatric Hematology, Oncology, and Immunology period from 2009 2021. The was approved by Independent Ethics Committee Scientific Council D. NMRCPHOI. median age...
Background. High-grade gliomas are characterized by a wide range of genetic abnormalities. The heterogeneous genomic landscape pediatric high-grade allows identifying distinct subgroups the disease in children and young adults. Most importantly, these differ clinical course prognosis, as well treatment response to standard therapy. Objective: assess profile molecular markers children. Materials methods. In current study, we examine frequency H3F3A, Hist1H3B, BRAF, IDH1 / 2 mutations, copy...
ABSTRACT NGS is a powerful tool for the diagnostics of inherited diseases. A number studies devoted to development and validation targeted panels are published. Here we present not only an assay, but report our experience on introduction new approach into real clinical practice. The assay intended frequent newborn diseases: cystic fibrosis, phenylketonuria galactosemia. analysis performed Ion PGM™ sequencing platform allows detection single-nucleotide variations as well copy variants. We...
Infant high grade gliomas (HGG) are the most frequent tumors of central nervous system in children below 1 year age. Standard therapy involves surgical resection and chemotherapy. Prognosis infant HGG is better than older patients, however, absence effective regimens anti-recurrence impossibility radiation implementation predetermine a negative prognosis group case disease progression. In patients with hemispheric localization, gene rearrangements receptor tyrosine kinases – NTRK1/2/3 (24%),...
Abstract BACKGROUND: Choroid plexus carcinomas (CPCs) are rare aggressive pediatric tumors of the brain with no treatment standards. Genetic profiling CPCs is often confined to possible association Li–Fraumenisyndrome, though only about a half develop fromsyndromic predispositions. Whole-chromosome gains and losses typical reflect genomic instability these tumors, but partially explain clinical course. METHODS: This retrospective study enrolled 25 patients CPC, receiving between January 2009...
In 2022, central nervous system (CNS) tumor with BCOR internal tandem duplication (BCOR ITD) was included in the fifth edition of World Health Organization Classification Tumors CNS as part embryonal group. The identification a distinct DNA methylation profile and presence recurrent genetic aberration – ITD made it possible to recognize these tumors separate entity. most cases, occur children under 5 years age are located hemispheres cerebellum or brain. Since is rare relatively new entity,...
Infant hypothalamic-chiasmatic gliomas demonstrate aggressive behavior and poor response to chemotherapy. Diencephalic syndrome is often the first and, for a long time, only symptom of these tumors, which leads diagnostic delay. has been reported as an adverse prognostic factor in pediatric low-grade gliomas. Alternative therapies such novel molecular targeted are particularly needed patients. Here we report two clinical cases infants with KIAA1549–BRAF rearranged hypothalamic/chiasmatic who...