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1.
Neurocirugía (Soc. Luso-Esp. Neurocir.) ; 33(4): 190-194, jul. - ago. 2022. ilus
Artigo em Inglês | IBECS | ID: ibc-204453

RESUMO

Primary diffuse leptomeningeal oligodendrogliomatosis is a rare fatal tumor of childhood. Symptoms usually occur when the tumor causes hydrocephalus. Brain magnetic resonance imaging (MRI) may be nearly normal in the early stages of the disease, while hydrocephalus and multiple leptomeningeal cysts with spongiform appearance may appear later on. One may consider the diagnosis when radiologic findings become apparent with multiple leptomeningeal cysts. However, failure to recognize the imaging findings due to the rarity of the disease may delay the diagnosis. Here, we report a 3.5-year-old girl who presented with ataxia and vomiting and had a diagnosis of primary diffuse leptomeningeal glioneuronal tumor with remarkable brain MRI findings as diffuse multiple tiny cystic lesions on the brain and spinal cord. She benefited from radiotherapy and temozolomide treatment with remission of brain MRI findings. Increasing the number of reported cases will enable the elucidation of the disease's pathogenesis and the development of treatment protocol (AU)


La oligodendrogliomatosis leptomeníngea difusa primaria es un tumor fatal infrecuente de la infancia. Los síntomas generalmente ocurren cuando este causa hidrocefalia. La resonancia magnética (RM) cerebral puede ser casi normal en las primeras etapas de la enfermedad, mientras que la hidrocefalia y múltiples quistes leptomeníngeos con apariencia espongiforme pueden aparecer más adelante. Se puede considerar el diagnóstico cuando los hallazgos radiológicos se hacen visibles con la aparición de varios quistes leptomeníngeos. Sin embargo, el hecho de no reconocer estas evidencias en las imágenes debido a la rareza de la enfermedad puede retrasar el diagnóstico. Aquí, presentamos el caso de una niña de 3,5 años con ataxia y vómitos que tenía un diagnóstico de tumor glioneuronal leptomeníngeo difuso primario con muchas lesiones quísticas diminutas difusas en el cerebro y en la médula espinal observadas en la RM cerebral. La paciente se benefició del tratamiento con radioterapia y temozolomida con remisión de los hallazgos de la RM cerebral. El aumento del número de casos notificados permitirá dilucidar la patogénesis de la enfermedad y desarrollar protocolos de tratamiento (AU)


Assuntos
Humanos , Feminino , Pré-Escolar , Neoplasias Meníngeas/diagnóstico por imagem , Neoplasias Neuroepiteliomatosas/diagnóstico por imagem , Imageamento por Ressonância Magnética , Neoplasias Meníngeas/terapia , Neoplasias Neuroepiteliomatosas/terapia
2.
Int J Mol Sci ; 23(13)2022 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-35806102

RESUMO

Renal medullary carcinoma (RMC) is a rare renal malignancy that has been associated with sickle hemoglobinopathies. RMC is aggressive, difficult to treat, and occurs primarily in adolescents and young adults of African ancestry. This cancer is driven by the loss of SMARCB1, a tumor suppressor seen in a number of primarily rare childhood cancers (e.g., rhabdoid tumor of the kidney and atypical teratoid rhabdoid tumor). Treatment options remain limited due in part to the limited knowledge of RMC biology. However, significant advances have been made in unraveling the biology of RMC, from genomics to therapeutic targets, over the past 5 years. In this review, we will present these advances and discuss what new questions exist in the field.


Assuntos
Carcinoma Medular , Carcinoma de Células Renais , Neoplasias Renais , Neoplasias Neuroepiteliomatosas , Tumor Rabdoide , Adolescente , Carcinoma Medular/genética , Carcinoma Medular/terapia , Carcinoma de Células Renais/genética , Carcinoma de Células Renais/patologia , Carcinoma de Células Renais/terapia , Criança , Humanos , Neoplasias Renais/genética , Neoplasias Renais/patologia , Neoplasias Renais/terapia , Tumor Rabdoide/patologia , Adulto Jovem
3.
Zhonghua Bing Li Xue Za Zhi ; 51(7): 640-646, 2022 Jul 08.
Artigo em Chinês | MEDLINE | ID: mdl-35785835

RESUMO

Objective: To investigate the clinicopathological features and differential diagnosis of polymorphous low-grade neuroepithelial tumor of the young (PLNTY). Methods: Five cases of PLNTY diagnosed at the First Affiliated Hospital and Affiliated Brain Hospital of Nanjing Medical University, Nanjing, China from 2019 to 2021 were collected. All cases were evaluated using clinical and imaging data, histology, immunohistochemical staining and molecular genetics. The relevant literature was reviewed. Results: There were two male and three female patients, aged 10 to 39 years, with an average age of 25 years. Clinically, the tumors were in the temporal lobe (3 cases), the lateral ventricle (1 case) and the left head of caudate nucleus (1 case). The clinical manifestations included epilepsy in 3 cases, right visual disturbance in 1 case, and post-trauma incidental finding in 1 case. Microscopically, the lesions were characterized with infiltrative growth, cellular pleomorphism (oligodendroglioma-like cells were always present, with low-grade, pleomorphic nuclei) and variable calcifications. Immunohistochemically, the tumor cells were positive for GFAP and Olig2. They also showed intense and diffuse expression of CD34 while CD34 expressing ramified neural elements were present in regional cortex. Ki-67 proliferation index was less than 3%. Molecular genetics showed the BRAF V600E mutation in 2 cases, the PAK5-Q337R missense mutation in 1 case, the FGFR2-CTNNA3 fusion in 1 case, and the FGFR2-INA and FGFR2-PPRC1 concomitant fusion in 1 case. No postoperative chemoradiotherapy was given. Follow-up intervals ranged from 3 to 29 months while no recurrence or metastasis was identified. Conclusions: PLNTY is uncommon. A definite diagnosis of PLNTY relies on histopathological examination and molecular genetics. It is important to distinguish PLNTY from high grade gliomas and avoid overtreatment. The recently reported the PAK5-Q337R missense mutation and the FGFR2-PPRC1 gene fusion in PLNTY may help diagnose and understand the pathogenesis of PLNTY.


Assuntos
Neoplasias Encefálicas , Glioma , Neoplasias Neuroepiteliomatosas , Oligodendroglioma , Adulto , Encéfalo/patologia , Neoplasias Encefálicas/metabolismo , Feminino , Glioma/patologia , Humanos , Masculino , Neoplasias Neuroepiteliomatosas/complicações , Neoplasias Neuroepiteliomatosas/genética , Oligodendroglioma/genética
4.
Virchows Arch ; 481(2): 213-221, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35678876

RESUMO

Teratomas with secondary somatic malignancy showing neuroglial differentiation (central nervous system (CNS)-type tumors) arising from a glial or neuroepithelial component is a very uncommon event and primarily described in the ovary. We aimed to describe the morphological spectrum and molecular features of CNS type of neuroepithelial tumors arising from the germ cell tumors (GCT) in the extra-gynecological sites. All cases of teratoma and mixed GCT arising from the non-gynecological sites over 7 years were screened for CNS type of neuroepithelial tumors. Detailed histological and immunohistochemical analysis was performed. IDH1 and 2 sequencings were performed in the glial tumors. Fluorescent in situ hybridization (FISH) was performed for EWSR1 rearrangement, 19/19q co-deletion, CDKN2A homozygous deletion, EGFR amplification, and C19MC amplification, wherever required. Out of 302 GCTs examined, the neuroglial tumor was detected in 15 cases. It included nine cases of glial tumors (including one pilocytic astrocytoma (grade I), two diffuse astrocytomas (grade II), one oligodendroglioma (grade II), one gemistocytic astrocytoma (grade II), three anaplastic astrocytomas (grade III), and one case of glioblastoma (grade IV)) and six cases of the embryonal tumor with multilayered rosettes (ETMR). None of the gliomas showed IDH mutation by immunohistochemistry or sequencing. The ETMR cases did not show Lin28 expression or C19MC amplification. To conclude, the spectrum of neuroglial tumors arising from teratoma in the extragonadal sites is vast and most commonly includes glial neoplasms and embryonal tumors. Our findings indicate that the genotype and pathogenesis of tumors with neuroglial differentiation in teratoma are distinct from their CNS counterpart.


Assuntos
Astrocitoma , Neoplasias Encefálicas , Neoplasias do Sistema Nervoso Central , Glioma , Neoplasias Embrionárias de Células Germinativas , Neoplasias Neuroepiteliomatosas , Teratoma , Astrocitoma/genética , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Sistema Nervoso Central/patologia , Neoplasias do Sistema Nervoso Central/genética , Neoplasias do Sistema Nervoso Central/patologia , Feminino , Glioma/genética , Homozigoto , Humanos , Hibridização in Situ Fluorescente , Neoplasias Embrionárias de Células Germinativas/genética , Neoplasias Neuroepiteliomatosas/genética , Deleção de Sequência , Teratoma/genética
6.
Acta Neuropathol ; 143(6): 697-711, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35501487

RESUMO

Atypical teratoid/rhabdoid tumor (ATRT) is an aggressive central nervous system tumor characterized by loss of SMARCB1/INI1 protein expression and comprises three distinct molecular groups, ATRT-TYR, ATRT-MYC and ATRT-SHH. ATRT-SHH represents the largest molecular group and is heterogeneous with regard to age, tumor location and epigenetic profile. We, therefore, aimed to investigate if heterogeneity within ATRT-SHH might also have biological and clinical importance. Consensus clustering of DNA methylation profiles and confirmatory t-SNE analysis of 65 ATRT-SHH yielded three robust molecular subgroups, i.e., SHH-1A, SHH-1B and SHH-2. These subgroups differed by median age of onset (SHH-1A: 18 months, SHH-1B: 107 months, SHH-2: 13 months) and tumor location (SHH-1A: 88% supratentorial; SHH-1B: 85% supratentorial; SHH-2: 93% infratentorial, often extending to the pineal region). Subgroups showed comparable SMARCB1 mutational profiles, but pathogenic/likely pathogenic SMARCB1 germline variants were over-represented in SHH-2 (63%) as compared to SHH-1A (20%) and SHH-1B (0%). Protein expression of proneural marker ASCL1 (enriched in SHH-1B) and glial markers OLIG2 and GFAP (absent in SHH-2) as well as global mRNA expression patterns differed, but all subgroups were characterized by overexpression of SHH as well as Notch pathway members. In a Drosophila model, knockdown of Snr1 (the fly homologue of SMARCB1) in hedgehog activated cells not only altered hedgehog signaling, but also caused aberrant Notch signaling and formation of tumor-like structures. Finally, on survival analysis, molecular subgroup and age of onset (but not ASCL1 staining status) were independently associated with overall survival, older patients (> 3 years) harboring SHH-1B experiencing relatively favorable outcome. In conclusion, ATRT-SHH comprises three subgroups characterized by SHH and Notch pathway activation, but divergent molecular and clinical features. Our data suggest that molecular subgrouping of ATRT-SHH has prognostic relevance and might aid to stratify patients within future clinical trials.


Assuntos
Neoplasias do Sistema Nervoso Central , Neoplasias Neuroepiteliomatosas , Tumor Rabdoide , Teratoma , Neoplasias do Sistema Nervoso Central/genética , Metilação de DNA , Proteínas Hedgehog/genética , Proteínas Hedgehog/metabolismo , Humanos , Neoplasias Neuroepiteliomatosas/genética , Prognóstico , Tumor Rabdoide/genética , Proteína SMARCB1/genética , Proteína SMARCB1/metabolismo , Teratoma/genética
7.
Indian J Pathol Microbiol ; 65(Supplement): S59-S67, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35562135

RESUMO

Glioneuronal and neuronal tumors (GNTs) are slow-growing lower-grade neuroepithelial tumors with mature neuronal and, less consistently, glial differentiation. Their identification has relied solely on histological proof of neuronal differentiation, which was considered to represent the well-differentiated nature of GNTs. However, after discovering the genetic alterations in GNTs, particularly those in the MAP-kinase pathway, it became evident that histological diagnoses are not always concurrent with genetic alterations and vice versa. Furthermore, since several inhibitors mediating the MAP-kinase pathway are available, at least for clinical trials, molecular-based classification is now warranted. Thus, the upcoming WHO Classification of Central Nervous System Tumors, 5th edition (WHO5CNS) applied DNA methylation profiling to segregate low-grade neuroepithelial tumors. This review gives an overview of the pathological features of GNTs with particular reference to the newly listed tumor types in WHO5CNS. The knowledge and awareness of each tumor type are essential to make a correct diagnosis and avoid unnecessary radical resection and chemoradiotherapy, as GNTs are relatively indolent and have a prolonged clinical course. In addition, being distinctive in location, age group, and histology, the integration of clinicopathological information will help identify relevant tumor types of GNTs without genetic testing, even in resource-limited settings.


Assuntos
Neoplasias Encefálicas , Neoplasias do Sistema Nervoso Central , Neoplasias Neuroepiteliomatosas , Neoplasias Encefálicas/patologia , Neoplasias do Sistema Nervoso Central/diagnóstico , Neoplasias do Sistema Nervoso Central/genética , Humanos , Neoplasias Neuroepiteliomatosas/diagnóstico , Neoplasias Neuroepiteliomatosas/genética , Neoplasias Neuroepiteliomatosas/patologia , Neurônios/patologia , Organização Mundial da Saúde
8.
Clin Neurol Neurosurg ; 218: 107265, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35567835

RESUMO

BACKGROUND: Diffuse leptomeningeal glioneuronal tumor (DLGNT), also known as oligodendrogliomatosis, is a rare neuro-oncologic condition along the neuraxis that remains poorly understood in children. We sought to describe our institutional experience and quantitively summarize the clinical survival and prognostic features of DLGNT in the pediatric population across the contemporary literature. METHODS: We report four institutional cases of pediatric DLGNT diagnosed between 2000 and 2020 based on retrospective review of our records, and performed a comprehensive literature search for published cases from 2000 onwards to create an integrated cohort for analysis. Kaplan-Meier estimations, Fisher's exact test, and logistic regression were utilized to interrogate the data. RESULTS: Of our four cases, three females aged 2-, 3- and 13-years old at diagnosis survived 6-years, 3-years and 14-months respectively, and one male aged 5-years old at diagnosis was still alive 5 years later. Our overall integrated cohort consisted of 54 pediatric DLGNT patients, with 19 (35%) female and 35 (65%) male patients diagnosed at an average age of 6.4 years (range, 1.3-17 years) by means of surgical biopsy. Chemotherapy was used in 45 cases (83%), and mean follow-up time of 54 months (range, 3-204). Across the entire cohort, overall survival 1 month after diagnosis was 96% (95% CI 86-99%), and by 10 years was 69% (95% CI 49-82%). On multivariate analysis of complete data, chemotherapy treatment (HR=0.23, P = 0.04) was statistically predictive of longer overall survival. CONCLUSIONS: More than 2-out-of-3 pediatric DLGNT patients survive beyond one decade. Chemotherapy is statistically associated with longer survival in DLGNT pediatric patients and should form the core of any treatment regimen in this setting. Early detection by means of judicious imaging and surgical biopsy for tissue diagnosis can lead to earlier treatment and likely superior outcomes.


Assuntos
Neoplasias do Sistema Nervoso Central , Neoplasias Meníngeas , Neoplasias Neuroepiteliomatosas , Adolescente , Sistema Nervoso Central/patologia , Neoplasias do Sistema Nervoso Central/patologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Neoplasias Meníngeas/diagnóstico por imagem , Neoplasias Meníngeas/cirurgia , Pesquisa
9.
Nat Commun ; 13(1): 2083, 2022 04 19.
Artigo em Inglês | MEDLINE | ID: mdl-35440587

RESUMO

Astroblastomas (ABs) are rare brain tumors of unknown origin. We performed an integrative genetic and epigenetic analysis of AB-like tumors. Here, we show that tumors traceable to neural stem/progenitor cells (radial glia) that emerge during early to later brain development occur in children and young adults, respectively. Tumors with MN1-BEND2 fusion appear to present exclusively in females and exhibit overexpression of genes expressed prior to 25 post-conception weeks (pcw), including genes enriched in early ventricular zone radial glia and ependymal tumors. Other, histologically classic ABs overexpress or harbor mutations of mitogen-activated protein kinase pathway genes, outer and truncated radial glia genes, and genes expressed after 25 pcw, including neuronal and astrocyte markers. Findings support that AB-like tumors arise in the context of epigenetic and genetic changes in neural progenitors. Selective gene fusion, variable imprinting and/or chromosome X-inactivation escape resulting in biallelic overexpression may contribute to female predominance of AB molecular subtypes.


Assuntos
Neoplasias Neuroepiteliomatosas , Células-Tronco Neurais , Linhagem da Célula/genética , Criança , Células Ependimogliais , Feminino , Humanos , Masculino , Neuroglia , Inativação do Cromossomo X/genética , Adulto Jovem
10.
Brain Nerve ; 74(4): 385-392, 2022 Apr.
Artigo em Japonês | MEDLINE | ID: mdl-35437291

RESUMO

Astroblastoma is an extremely rare primary brain tumor accounting for 0.45 to 2.8% of all neuroglial tumors and usually occurs in pediatrics and young adults. The natural history of astroblastoma still remains unknown. In the World Health Organization (WHO) classification of tumors of the central nervous system, astroblastoma is classified as other neuroepithelial tumors and standard treatment other than surgery has not been established. As molecular and genetic diagnosis becomes more important in the latest WHO classification of brain tumors, the development of therapeutic options based on the information of molecular genetics are expected. Here we report a case of astroblastoma in a 49-year-old male. Small tumor was discovered by coincidence during his check-up following traffic accident, but three months later, tumor bleeding with cystic enlargement resulted in disturbance of consciousness. Initial diagnosis of low grade astroblastoma with BRAFV600E mutation was made. After 1 year, local tumor recurrence was observed. The histological diagnosis at recurrence was high grade astroblastoma. We here, discuss about diagnosis, treatment and the possibility of usefulness of molecular genetic analysis for astroblastoma with some literature review. (Received 10 August, 2021; Accepted 15 December, 2021; Published 1 April, 2022).


Assuntos
Neoplasias Encefálicas , Cistos , Glioma , Neoplasias Neuroepiteliomatosas , Adulto , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/diagnóstico , Criança , Glioma/diagnóstico , Hemorragia , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Neuroepiteliomatosas/complicações , Neoplasias Neuroepiteliomatosas/patologia , Adulto Jovem
12.
Neuropathol Appl Neurobiol ; 48(5): e12813, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35293634

RESUMO

AIM: Rosette-forming glioneuronal tumour (RGNT) is a rare central nervous system (CNS) World Health Organization (WHO) grade 1 brain neoplasm. According to the WHO 2021, essential diagnostic criteria are a 'biphasic histomorphology with neurocytic and a glial component, and uniform neurocytes forming rosettes and/or perivascular pseudorosettes associated with synaptophysin expression' and/or DNA methylation profile of RGNT whereas 'FGFR1 mutation with co-occurring PIK3CA and/or NF1 mutation' are desirable criteria. MATERIAL AND METHODS: We report a series of 46 cases fulfilling the essential pathological diagnostic criteria for RGNT. FGFR1 and PIK3CA hotspot mutations were searched for by multiplexed digital PCR in all cases, whereas DNA methylation profiling and/or PIK3R1 and NF1 alterations were analysed in a subset of cases. RESULTS: Three groups were observed. The first one included 21 intracranial midline tumours demonstrating FGFR1 mutation associated with PIK3CA or PIK3R1 (n = 19) or NF1 (n = 1) or PIK3CA and NF1 (n = 1) mutation. By DNA methylation profiling, eight cases were classified as RGNT (they demonstrated FGFR1 and PIK3CA or PIK3R1 mutations). Group 2 comprised 11 cases associated with one single FGFR1 mutation. Group 3 included six cases classified as low-grade glioma (LGG) other than RGNT (one-sixth showed FGFR1 mutation and one a FGFR1 and NF1 mutation) and eight cases without FGFR1 mutation. Groups 2 and 3 were enriched in lateral and spinal cases. CONCLUSIONS: We suggest adding FGFR1 mutation and intracranial midline location as essential diagnostic criteria. When DNA methylation profiling is not available, a RGNT diagnosis remains certain in cases demonstrating characteristic pathological features and FGFR1 mutation associated with either PIK3CA or PIK3R1 mutation.


Assuntos
Neoplasias Encefálicas , Neoplasias do Sistema Nervoso Central , Glioma , Neoplasias Neuroepiteliomatosas , Receptor Tipo 1 de Fator de Crescimento de Fibroblastos , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Neoplasias do Sistema Nervoso Central/genética , Neoplasias do Sistema Nervoso Central/patologia , Classe I de Fosfatidilinositol 3-Quinases/genética , Classe Ia de Fosfatidilinositol 3-Quinase/genética , Glioma/genética , Glioma/patologia , Humanos , Neoplasias Neuroepiteliomatosas/genética , Neoplasias Neuroepiteliomatosas/patologia , Receptor Tipo 1 de Fator de Crescimento de Fibroblastos/genética
13.
Neuropathol Appl Neurobiol ; 48(5): e12814, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35301744

RESUMO

Astroblastomas are neuroepithelial tumours defined by the presence of MN1 rearrangement and are typically located in the cerebral hemispheres. Rare cases of astroblastoma-like tumours carrying an EWSR1-BEND2 fusion have been recently described in the brain stem and spinal cord. We report a paediatric case of neuroepithelial astroblastoma-like tumour occurring in the spine and carrying a novel MAMLD1-BEND2 fusion. We believe that our case aligns with the rare astroblastoma-like tumours with EWSR1-BEND2 fusion, in terms of non-hemispheric location, pathology, methylation profile and activation of BEND2 transcription. Whether they may represent a distinct entity or a variant of MN1-altered astroblastoma is not clear.


Assuntos
Neoplasias Encefálicas , Neoplasias Neuroepiteliomatosas , Neoplasias da Medula Espinal , Neoplasias Encefálicas/patologia , Criança , Aberrações Cromossômicas , Proteínas de Ligação a DNA , Humanos , Neoplasias Neuroepiteliomatosas/genética , Neoplasias Neuroepiteliomatosas/patologia , Proteínas Nucleares , Neoplasias da Medula Espinal/genética , Transativadores , Fatores de Transcrição , Proteínas Supressoras de Tumor/genética
14.
Neurol India ; 70(1): 372-374, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35263918

RESUMO

Rosette forming glioneural tumors (RGNT) are a rare type of low-grade brain tumor included in 2007 in WHO classification. Given the benign nature of the disease, a complete surgical excision has been considered optimum. However, a handful of cases have reported the locally aggressive nature of RGNT. In addition, radiation may also be considered for a tumor located in areas where surgical excision is difficult. We present a similar case, where surgical risk was weighed against resection and we treated the patient with conformal radiation.


Assuntos
Neoplasias Encefálicas , Neoplasias do Ventrículo Cerebral , Neoplasias Neuroepiteliomatosas , Radioterapia Conformacional , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/radioterapia , Neoplasias do Ventrículo Cerebral/patologia , Neoplasias do Ventrículo Cerebral/radioterapia , Quarto Ventrículo/patologia , Humanos , Neoplasias Neuroepiteliomatosas/patologia , Neoplasias Neuroepiteliomatosas/radioterapia
15.
Brain Pathol ; 32(4): e13060, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35218102

RESUMO

The 2021 5th edition of the WHO Classification of Tumors of the Central Nervous System reflects the discovery of genetic alterations underlying many central nervous system (CNS) neoplasms. Insights gained from technologic advances and novel applications in molecular diagnostics, including next-generation sequencing and DNA methylation-based profiling, coupled with the recognition of clinicopathologic correlates, have prompted substantial changes to CNS tumor classification; this is particularly true for pediatric low-grade gliomas and glioneuronal tumors (pLGG/GNTs). The 2021 WHO now classifies gliomas, glioneuronal tumors and neuronal tumors into 6 families, three of which encompass pLGG/LGNTs: "Pediatric type diffuse low-grade gliomas," "circumscribed astrocytic gliomas," and "glioneuronal and neuronal tumors." Among these are six newly recognized tumor types: "diffuse astrocytoma, MYB or MYBL1-altered"; "polymorphous low grade neuroepithelial tumor of the young (PLNTY)"; "diffuse low-grade glioma-MAPK altered"; "Diffuse glioneuronal tumor with oligodendroglioma-like features and nuclear clusters (DGONC)"; "myxoid glioneuronal tumor (MGT)"; and "multinodular and vacuolating neuronal tumor (MVNT)." We review these newly recognized entities in the context of general changes to the WHO schema, discuss implications of the new classification for treatment of pLGG/LGNT, and consider strategies for molecular testing and interpretation.


Assuntos
Astrocitoma , Neoplasias Encefálicas , Neoplasias do Sistema Nervoso Central , Glioma , Neoplasias Neuroepiteliomatosas , Astrocitoma/patologia , Neoplasias Encefálicas/patologia , Sistema Nervoso Central/patologia , Neoplasias do Sistema Nervoso Central/patologia , Criança , Glioma/genética , Humanos , Neoplasias Neuroepiteliomatosas/genética , Organização Mundial da Saúde
17.
Acta Neuropathol Commun ; 10(1): 15, 2022 02 03.
Artigo em Inglês | MEDLINE | ID: mdl-35115049

RESUMO

A novel DNA methylation class of tumor within the central nervous system, the "neuroepithelial tumor (NET), PATZ1 fusion-positive" has recently been identified in the literature, characterized by EWSR1- and MN1-PATZ1 fusions. The cellular origin of this tumor type remains unknown, wavering between glioneuronal or mesenchymal (as round cell sarcomas with EWSR1-PATZ1 of the soft tissue). Because of the low number of reported cases, this tumor type will not be added to the 2021 World Health Organization Classification of Tumors of the Central Nervous System (CNS). Herein, we report one case of a CNS tumor classified by DNA methylation analysis as NET-PATZ1 but harboring a novel LARGE1-AFF2 fusion which has until now never been described in soft tissue or the CNS. We compare its clinical, histopathological, immunophenotypical, and genetic features with those previously described in NET-PATZ1. Interestingly, the current case presented histopathological (astroblastoma-like features, glioneuronal phenotype), clinical (with a favorable course), genetic (1p loss), and epigenetic (DNA-methylation profiling) similarities to previously reported cases of NET-PATZ1. Our results added data suggesting that different histomolecular tumor subtypes seem to be included within the methylation class "NET, PATZ1 fusion-positive", including non PATZ1 fusions, and that further cases are needed to better characterize them.


Assuntos
Neoplasias Encefálicas/genética , Fatores de Transcrição Kruppel-Like/genética , N-Acetilglucosaminiltransferases/genética , Neoplasias Neuroepiteliomatosas/genética , Proteínas Nucleares/genética , Proteínas Repressoras/genética , Neoplasias Encefálicas/patologia , Pré-Escolar , Feminino , Humanos , Neoplasias Neuroepiteliomatosas/patologia , Proteínas de Fusão Oncogênica/genética
18.
Neuroradiology ; 64(6): 1255-1264, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35001164

RESUMO

PURPOSE: Polymorphous low-grade neuroepithelial tumors of the young (PLNTY) is a newly recognized brain tumor with genetic abnormalities frequently involving either BRAF or FGFR2/FGFR3. There are few publications available about the neuroradiological features of PLNTY. In this systematic review, we assessed the demographic, clinical, and neuroradiological features of PLNTY. METHODS: Literature data were extracted from database searches in MEDLINE and SCOPUS databases up to June 10, 2021. Studies reporting on pathologically proven PLNTY with neuroradiological findings were included. After reviewing 103 abstracts, 9 articles encompassing 19 cases met the inclusion criteria. We also added five patients from our hospital. The correlations between the presence of "transmantle-like sign" and the following three factors: duration of seizures; tumor size; and pathologically proven cortical dysplasia, were examined. RESULTS: The median patient age was 15.5 years (range, 5-57 years), and 15/24 (62.5%) were female. All tumors were localized supratentorialy. The main radiological features included cortical or subcortical masses (95.8%) in the temporal lobe (66.7%), calcification (83.3%), well-defined margins (72.7%), solid and cystic components (66.6%), and T2-weighted imaging (T2WI) hyperintensity (50.0%). The duration of seizure was significantly longer (positive vs. negative (median [range]), 24 months [6 - 96 months] vs. 5 months [1 - 12 months], p = 0.042), and the presence of the cortical dysplasia was significantly more frequent (3/8 vs 0/16, p = 0.042) in the patients with transmantle-like sign. CONCLUSION: PLNTY typically represents a calcified, well-defined mass in the supratentorial cortical or subcortical regions. The radiological findings defined here could facilitate the diagnosis of PLNTY.


Assuntos
Neoplasias Encefálicas , Malformações do Desenvolvimento Cortical , Neoplasias Neuroepiteliomatosas , Adolescente , Adulto , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/genética , Criança , Pré-Escolar , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Neoplasias Neuroepiteliomatosas/diagnóstico por imagem , Convulsões , Adulto Jovem
19.
Genes Chromosomes Cancer ; 61(7): 427-431, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35094441

RESUMO

MN1-BEND2 is considered as a defining gene fusion of astroblastoma. Herein, we report the first case of soft-tissue sarcoma with this fusion. The tumor developed in the abdominal wall of an 87-year-old woman, and consisted of a striking storiform growth of low-grade spindle cells admixed with a dense proliferation of oval cells with a higher nuclear atypia and mitotic activity. The sarcoma was immunohistochemically positive for actin but negative for S100 protein, glial fibrillary acidic protein, and Olig2. Targeted RNA sequencing identified an in-frame MN1 (exon 1)-BEND2 (exon 11) fusion transcript, which was validated by reverse transcription polymerase chain reaction, Sanger sequencing, and MN1 break-apart fluorescence in situ hybridization. DNA methylation profiling revealed that the tumor did not match any sarcoma classes based on the DKFZ classifier. Using T-distributed stochastic neighbor embedding analysis, the sarcoma was plotted close to the provisional class "Sarcoma (malignant peripheral nerve sheath tumor-like)," despite no phenotypic resemblance. Copy number analysis using methylation data demonstrated losses at 2q, 8p, 9p, 11p, 14q, 19q, and 22q. When compared with a cerebral astroblastoma sample with MN1 (exon 1)-BEND2 (exon 9) fusion, the sarcoma showed no resemblance in histology, immunophenotype, or DNA methylation profile, although they shared copy number loss at 14q, 19q, and 22q. The present report demonstrated that MN1-BEND2 is another example of a pleiotropic fusion gene that is shared among different tumor types.


Assuntos
Neoplasias Neuroepiteliomatosas , Sarcoma , Neoplasias de Tecidos Moles , Idoso de 80 Anos ou mais , Feminino , Fusão Gênica , Humanos , Hibridização in Situ Fluorescente , Neoplasias Neuroepiteliomatosas/genética , Neoplasias Neuroepiteliomatosas/metabolismo , Neoplasias Neuroepiteliomatosas/patologia , Proteínas de Fusão Oncogênica/genética , Sarcoma/genética , Transativadores/genética , Proteínas Supressoras de Tumor/genética
20.
Neurol Res ; 44(7): 591-597, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34991438

RESUMO

OBJECTIVE: Dysembryoplastic neuroepithelioma tumors (DNETs) are rare glioneuronal tumors usually present with partial epilepsy. We analyzed the surgical curative effect of DNETs based on imaging classification. METHODS: The clinical, neuroimaging, seizure history, neuropathological data, and other medical records of 21 cases of cerebral hemisphere DNETs were collected and analyzed retrospectively. According to the magnetic resonance imaging (MRI) classification of Chassoux, these cases were divided into 8 cases of type I (thylakoid type), 6 cases of type II (nodular type), and 7 cases of type III (dysplasia). All patients received detailed preoperative evaluation and underwent surgical treatment. We statistically compared the postoperative seizure outcome of different DNET MRI types by Engel classification. RESULTS: All tumors were surgically removed and pathologically diagnosed as DNETs. The follow-up period was 5-68 months Engel class I outcome was achieved in all type I cases, 3 (50%) type II cases, and 3 (42.9%) type III cases. The postoperative seizure outcome of MRI type I was better than that of type II and III. CONCLUSION: Based on the MRI classification of DNET by Chassoux, the postoperative epilepsy control of type I is better than that of type II and type III, which may be related to the residual FCD around the tumor of type II and type III. Thus, the MRI classification of DNET can contribute to the preoperative design of the resection plan. Total resection of type I and extended resection of type II, as well as type III, will help to improve the postoperative seizure-free rate in DNET.


Assuntos
Neoplasias Encefálicas , Epilepsias Parciais , Epilepsia , Glioma , Neoplasias Neuroepiteliomatosas , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/cirurgia , Criança , Epilepsia/diagnóstico por imagem , Epilepsia/etiologia , Epilepsia/cirurgia , Humanos , Imageamento por Ressonância Magnética/métodos , Neoplasias Neuroepiteliomatosas/diagnóstico , Neoplasias Neuroepiteliomatosas/patologia , Neoplasias Neuroepiteliomatosas/cirurgia , Estudos Retrospectivos , Convulsões/cirurgia , Resultado do Tratamento
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