Российский журнал ДЕТСКОЙ ГЕМАТОЛОГИИ и ОНКОЛОГИИ R u s s i a n J o u r n a l o f P e d i a t r i c H e m a t o l o g y а n d O n c o l o g y 93 К л и н и ч е с к и е н а б л ю д е н и я || C l i n i c a l c a s e s
Embryonal rhabdomyosarcoma (eRMS) is one of the most common soft tissue sarcomas in children, accounting for 4.5% of all childhood tumors. Half of the eRMS occuring in the head and neck are parameningeal. About 40% of patients with eRMS can develop distant metastases. In patients with intracranial tumors, metastatic spread can occur along the central nervous system (CNS) meninges. The literature describes only 4 clinical cases of eRMS with distant metastases in the spinal cord and along the meninges. Only in two out of these four cases, CSF cytology was positive (meaning that tumor cells were detected in cerebrospinal fluid). Magnetic resonance imaging (MRI) of the central nervous system with contrast enhancement can be used to detect distant metastases in the CNS and meninges. We present a clinical case of a 4-year old girl with parameningeal eRMS. MRI of the CNS performed as part of a diagnostic check-up revealed nodal metastatic foci along the meninges of the spinal cord. In accordance with the treatment protocol, the patient was diagnosed with stage 4 disease and received intensive polychemotherapy resulting in the disappearance of the nodal lesions in the spinal cord and a good prognosis. The parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications.
WNTMBaccounts for about 10% of all medulloblastomas and have a favorable outcome in patients under 16 years according international data. We analyzed clinical and molecular characteristics of 20 patients with WNTMBpatients. The study was approved by the Independent Ethics Committee of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. The molecular group verification was performed by Nanostring gene expression profiling. The detection of CTNNB1 and TP53 gene mutations was carried out with Sanger sequencing. WNT Medulloblastoma are mainly classic (18/20 patients), non-metastatic (19/20 patients). Gross total resection was performed in 18 patients. Somatic CTNNB1 mutations were found in 17 patients, somatic TP53 were identified in 2 patients. 19/20 assessable patients are disease-free with a median follow-up of 23 months. One patient died from the progression of the disease. WNT MB patients have an overall favorable outcome, even for metastatic and TP53 positive tumors. The reduction in the intensity of therapy is indicated forWNTMB in case of reliable identification ofWNTMB.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.