Expanding the spectrum of "mesenchymal" tumors of the central nervous system

: In this review, we summarize the clinical, histopathological, and molecular features of central nervous system (CNS) tumors with BCOR internal tandem duplication, intracranial mesenchymal tumor with FET/CREB fusion, CNS CIC-rearranged sarcomas and primary intracranial sarcoma DICER1-mutant, now included in the 2021 WHO classification of CNS tumors. Possible relationships between tumors occurring in the CNS and their systemic counterparts are discussed

The spectrum of rare central nervous system (CNS) tumors with EWSR1-non-ETS fusions: experience from three pediatric institutions with review of the literature

The group of CNS mesenchymal (non-meningothelial) and primary glial/neuronal tumors in association with EWSR1-non-ETS rearrangements comprises a growing spectrum of entities, mostly reported in isolation with incomplete molecular profiling. Archival files from three pediatric institutions were queried for unusual cases of pediatric (≤21 years) CNS EWSR1-rearranged tumors confirmed by at least one molecular technique. Extra-axial tumors and cases with a diagnosis of Ewing sarcoma (EWSR1-ETS family fusions) were excluded. Additional studies, including anchored multiplex-PCR with next-generation sequencing and DNA methylation profiling, were performed as needed to determine fusion partner status and brain tumor methylation class, respectively. Five cases (median 17 years) were identified (M:F of 3:2). Location was parenchymal (n = 3) and undetermined (n = 2) with topographic distributions including posterior fossa (n = 1), frontal (n = 1), temporal (n = 1), parietal (n = 1) and occipital (n = 1) lobes. Final designation with fusion findings included desmoplastic small round cell tumor (EWSR1-WT1; n = 1) and tumors of uncertain histogenesis (EWSR1-CREM, n = 1; EWSR1-CREB1, n = 1; EWSR1-PLAGL1, n = 1; and EWSR1-PATZ1, n = 1). Tumors showed a wide spectrum of morphology and biologic behavior. For EWSR1-CREM, EWSR1-PLAGL1 and EWSR1-PATZ1 tumors, no significant methylation scores were reached in the known brain tumor classes. Available outcome (4/5) was reported as favorable (n = 2) and unfavorable (n = 2) with a median follow-up of 30 months. In conclusion, we describe five primary EWSR1-non-ETS fused CNS tumors exhibiting morphologic and biologic heterogeneity and we highlight the clinical importance of determining specific fusion partners to improve diagnostic accuracy, treatment and monitoring. Larger prospective clinicopathological and molecular studies are needed to determine the prognostic implications of histotypes, anatomical location, fusion partners, breakpoints and methylation profiles in patients with these rare tumors

Влияние молекулярно-генетического профиля менингиом на течение заболевания и рецидивирование при использовании комбинированного метода лечения

Introduction. Meningioma is one of the most common central nervous system tumors, accounting for 39.7 % of all primary brain tumors. The tumor originates from arachnoid meningothelial cells and is characterized by a wide range of histological types classified into 15 subtypes. The histological classification of meningiomas allows us to predict meningioma behavior and the risk of disease recurrence, as well as to define treatment strategies. However, clinical outcomes in histological subgroups of patients are often inconsistent with the histological grade of malignancy. Thus, a more reliable method is needed both to determine the histological subtype of the tumor and to predict the clinical course of the disease with the potential for targeted treatment.The purpose of the study was to summarize the available data on the effect of results of the genomic and proteomic tumor analysis on carcinogenesis with the relationship between the mutational changes and noninvasive diagnosis, treatment and the course of the disease.Material and Methods. Literature search was carried out in the PubMed, Elibrary system, publications were included mainly from 2010 to 2023. with the identification of articles by the keyword “genetic analysis of meningiomas” and synonyms. 550 articles were found, of which 55 were used to write a literature review.Conclusion. The study of the molecular genetic profile of meningiomas will improve the classification and establish a correlation with MRI data, the course of the disease and prognosis.Введение. Менингиома, одна из самых распространенных опухолей центральной нервной системы, составляет 39,7 % всех выявляемых первичных опухолей головного мозга. Источником возникновения этих новообразований являются менинготелиальные клетки паутинной оболочки. Менингиомы отличаются широким спектром гистологических вариантов, что выражается в наличии 15 гистоподтипов. Гистологическая классификация менингиом позволяет предположить дальнейшее развитие заболевания, спрогнозировать риски рецидива опухоли, определить тактику ведения пациента. Однако клинические исходы в гистологических подгруппах пациентов часто противоречат гистологической градации злокачественности. Таким образом, необходим более надежный метод как для определения гистологического подтипа опухоли, так и для прогнозирования клинического течения заболевания с потенциалом для таргетного лечения.Цель исследования – обобщить литературные данные о влиянии результата геномного и протеомного анализа опухоли на канцерогенез с определением взаимосвязи данных мутационных изменений с неинвазивной диагностикой, лечением и течением заболевания.Материал и методы. Поиск литературы производился в системе PubMed, Elibrary, включались публикации преимущественно с 2010 по 2023 г. с идентификацией статей по ключевому слову «генетический анализ менингиом» и синонимами. Найдено 550 источников, из которых 55 использовано для написания литературного обзора. Ряд статей, опубликованных ранее 2010 г., использованы для исторической справки о методах лечения и диагностики. Данные статьи не включали информацию о генетическом аспекте публикации.Заключение. Продолжение изучения молекулярно-генетического профиля менингиом, в том числе, возможно, измененного под воздействием комплексного лечения, позволит усовершенствовать классификацию и определить корреляционную зависимость между морфологическим, молекулярно-генетическим профилем опухоли, структурой менингиомы на основе анализа данных МРТ и клиническим течением заболевания