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  1. Book ; Online: Pediatric Central Nervous System Tumors: State-of-the-Art and Debated Aspects

    Mastronuzzi, Angela / Carai, Andrea / Ferretti, Elisabetta / Miele, Evelina

    2020  

    Keywords Medicine ; Paediatric medicine ; brain tumors ; pediatric neuro-oncology ; children ; central nervous system tumors ; pediatric oncology
    Size 1 electronic resource (84 pages)
    Publisher Frontiers Media SA
    Document type Book ; Online
    Note English ; Open Access
    HBZ-ID HT021229983
    ISBN 9782889636648 ; 288963664X
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  2. Article ; Online: A supratentorial mass in a young adult, with 25 years of follow-up.

    Baciorri, Francesca / Sarcognato, Samantha / Di Paola, Francesco / Miele, Evelina / Rossi, Sabrina

    Brain pathology (Zurich, Switzerland)

    2024  , Page(s) e13260

    Language English
    Publishing date 2024-04-10
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 1051484-3
    ISSN 1750-3639 ; 1015-6305
    ISSN (online) 1750-3639
    ISSN 1015-6305
    DOI 10.1111/bpa.13260
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Cerebellar mass in a 31-year-old woman.

    Mulone, Davide / Polati, Rita / Miele, Evelina / Patrizi, Sara / Mafficini, Andrea / Barresi, Valeria

    Brain pathology (Zurich, Switzerland)

    2024  , Page(s) e13268

    Language English
    Publishing date 2024-05-20
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 1051484-3
    ISSN 1750-3639 ; 1015-6305
    ISSN (online) 1750-3639
    ISSN 1015-6305
    DOI 10.1111/bpa.13268
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Embryonal tumors in the WHO CNS5 classification: A Review.

    Gianno, Francesca / Miele, Evelina / Antonelli, Manila / Giangaspero, Felice

    Indian journal of pathology & microbiology

    2022  Volume 65, Issue Supplement, Page(s) S73–S82

    Abstract: Embryonal tumors are a heterogenous group of neoplasms mostly defined by recurrent genetic driver events. They have been, previously, broadly classified as either medulloblastoma or supratentorial primitive neuroectodermal tumors (PNETs). However, the ... ...

    Abstract Embryonal tumors are a heterogenous group of neoplasms mostly defined by recurrent genetic driver events. They have been, previously, broadly classified as either medulloblastoma or supratentorial primitive neuroectodermal tumors (PNETs). However, the application of DNA methylation/gene expression profiling in large series of neoplasms histologically defined as PNET, revealed tumors, which showed genetic events associated with glial tumors. These findings led to the definitive removal of the term "PNET" in the 2016 World Health Organization (WHO) classification of CNS tumors. Moreover, further studies on a large scale of methylation profiling have allowed the identification of new molecular-defined entities and have largely influenced the 5
    MeSH term(s) Brain Neoplasms/diagnosis ; Central Nervous System Neoplasms/diagnosis ; Central Nervous System Neoplasms/genetics ; Cerebellar Neoplasms ; DEAD-box RNA Helicases ; Forkhead Transcription Factors ; Humans ; Medulloblastoma/diagnosis ; Medulloblastoma/genetics ; Medulloblastoma/pathology ; Neoplasms, Germ Cell and Embryonal/diagnosis ; Neoplasms, Germ Cell and Embryonal/genetics ; Neuroectodermal Tumors, Primitive/diagnosis ; Neuroectodermal Tumors, Primitive/genetics ; Ribonuclease III ; World Health Organization
    Chemical Substances FOXR2 protein, human ; Forkhead Transcription Factors ; DICER1 protein, human (EC 3.1.26.3) ; Ribonuclease III (EC 3.1.26.3) ; DEAD-box RNA Helicases (EC 3.6.4.13)
    Language English
    Publishing date 2022-05-13
    Publishing country India
    Document type Journal Article ; Review
    ZDB-ID 197621-7
    ISSN 0974-5130 ; 0377-4929
    ISSN (online) 0974-5130
    ISSN 0377-4929
    DOI 10.4103/ijpm.ijpm_1049_21
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.B 862: Show issues Location:
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  5. Article: Epigenetic modulators for brain cancer stem cells: Implications for anticancer treatment.

    Abballe, Luana / Miele, Evelina

    World journal of stem cells

    2020  Volume 13, Issue 7, Page(s) 670–684

    Abstract: Primary malignant brain tumors are a major cause of morbidity and mortality in both adults and children, with a dismal prognosis despite multimodal therapeutic approaches. In the last years, a specific subpopulation of cells within the tumor bulk, named ... ...

    Abstract Primary malignant brain tumors are a major cause of morbidity and mortality in both adults and children, with a dismal prognosis despite multimodal therapeutic approaches. In the last years, a specific subpopulation of cells within the tumor bulk, named cancer stem cells (CSCs) or tumor-initiating cells, have been identified in brain tumors as responsible for cancer growth and disease progression. Stemness features of tumor cells strongly affect treatment response, leading to the escape from conventional therapeutic approaches and subsequently causing tumor relapse. Recent research efforts have focused at identifying new therapeutic strategies capable of specifically targeting CSCs in cancers by taking into consideration their complex nature. Aberrant epigenetic machinery plays a key role in the genesis and progression of brain tumors as well as inducing CSC reprogramming and preserving CSC characteristics. Thus, reverting the cancer epigenome can be considered a promising therapeutic strategy. Three main epigenetic mechanisms have been described: DNA methylation, histone modifications, and non-coding RNA, particularly microRNAs. Each of these mechanisms has been proven to be targetable by chemical compounds, known as epigenetic-based drugs or epidrugs, that specifically target epigenetic marks. We review here recent advances in the study of epigenetic modulators promoting and sustaining brain tumor stem-like cells. We focus on their potential role in cancer therapy.
    Language English
    Publishing date 2020-12-23
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2583482-4
    ISSN 1948-0210
    ISSN 1948-0210
    DOI 10.4252/wjsc.v13.i7.670
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: CNS tumor with CREBBP::BCORL1 Fusion and pathogenic mutations in BCOR and CREBBP: expanding the spectrum of BCOR-altered tumors.

    Barresi, Valeria / Cardoni, Antonello / Miele, Evelina / Pedace, Lucia / Masotto, Barbara / Nardini, Claudia / Barresi, Sabina / Rossi, Sabrina

    Acta neuropathologica communications

    2024  Volume 12, Issue 1, Page(s) 8

    Abstract: The fifth edition of the World Health Organization (WHO) classification of central nervous system (CNS) tumors introduced the new tumor type CNS tumor with BCOR internal tandem duplication (ITD), characterized by a distinct DNA methylation profile and ... ...

    Abstract The fifth edition of the World Health Organization (WHO) classification of central nervous system (CNS) tumors introduced the new tumor type CNS tumor with BCOR internal tandem duplication (ITD), characterized by a distinct DNA methylation profile and peculiar histopathological features, including a circumscribed growth pattern, ependymoma-like perivascular pseudorosettes, microcystic pattern, absent or focal GFAP immunostaining, OLIG2 positivity, and BCOR immunoreactivity. We describe a rare case of a CNS tumor in a 45-year-old man with histopathological and immunohistochemical features overlapping the CNS tumor with BCOR internal tandem duplication (ITD) but lacking BCOR immunostaining and BCOR ITD. Instead, the tumor showed CREBBP::BCORL1 fusion and pathogenic mutations in BCOR and CREBBP, along with a DNA methylation profile matching the "CNS tumor with EP300:BCOR(L1) fusion" methylation class. Two CNS tumors with fusions between CREBBP, or its paralog EP300, and BCORL1, and approximately twenty CNS tumors with CREBBP/EP300::BCOR fusions have been reported to date. They exhibited similar ependymoma-like features or a microcystic pattern, along with focal or absent GFAP immunostaining, and shared the same DNA methylation profile. Given their morphological and epigenetic similarities, circumscribed CNS tumors with EP300/CREBBP::BCOR(L1) fusions and CNS tumors with BCOR ITD may represent variants of the same tumor type. The ependymoma-like aspect coupled with the lack of diffuse GFAP immunostaining and the presence of OLIG2 positivity are useful clues for recognizing these tumors in histopathological practice. The diagnosis should be confirmed after testing for BCOR(L1) gene fusions and BCOR ITD.
    MeSH term(s) Male ; Humans ; Middle Aged ; Central Nervous System Neoplasms/genetics ; Mutation/genetics ; Ependymoma ; Proto-Oncogene Proteins/genetics ; Repressor Proteins/genetics ; CREB-Binding Protein/genetics
    Chemical Substances BCOR protein, human ; Proto-Oncogene Proteins ; Repressor Proteins ; CREBBP protein, human (EC 2.3.1.48) ; CREB-Binding Protein (EC 2.3.1.48) ; BCORL1 protein, human
    Language English
    Publishing date 2024-01-12
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 2715589-4
    ISSN 2051-5960 ; 2051-5960
    ISSN (online) 2051-5960
    ISSN 2051-5960
    DOI 10.1186/s40478-024-01726-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: Nanoparticles for Drug and Gene Delivery in Pediatric Brain Tumors' Cancer Stem Cells: Current Knowledge and Future Perspectives.

    Abballe, Luana / Spinello, Zaira / Antonacci, Celeste / Coppola, Lucia / Miele, Ermanno / Catanzaro, Giuseppina / Miele, Evelina

    Pharmaceutics

    2023  Volume 15, Issue 2

    Abstract: Primary malignant brain tumors are the most common solid neoplasm in childhood. Despite recent advances, many children affected by aggressive or metastatic brain tumors still present poor prognosis, therefore the development of more effective therapies ... ...

    Abstract Primary malignant brain tumors are the most common solid neoplasm in childhood. Despite recent advances, many children affected by aggressive or metastatic brain tumors still present poor prognosis, therefore the development of more effective therapies is urgent. Cancer stem cells (CSCs) have been discovered and isolated in both pediatric and adult patients with brain tumors (e.g., medulloblastoma, gliomas and ependymoma). CSCs are a small clonal population of cancer cells responsible for brain tumor initiation, maintenance and progression, displaying resistance to conventional anticancer therapies. CSCs are characterized by a specific repertoire of surface markers and intracellular specific pathways. These unique features of CSCs biology offer the opportunity to build therapeutic approaches to specifically target these cells in the complex tumor bulk. Treatment of pediatric brain tumors with classical chemotherapeutic regimen poses challenges both for tumor location and for the presence of the blood-brain barrier (BBB). Lastly, the application of chemotherapy to a developing brain is followed by long-term
    Language English
    Publishing date 2023-02-02
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2527217-2
    ISSN 1999-4923
    ISSN 1999-4923
    DOI 10.3390/pharmaceutics15020505
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Modeling Brain Tumors: A Perspective Overview of

    Antonica, Francesco / Aiello, Giuseppe / Soldano, Alessia / Abballe, Luana / Miele, Evelina / Tiberi, Luca

    Frontiers in molecular neuroscience

    2022  Volume 15, Page(s) 818696

    Abstract: Brain tumors are a large and heterogeneous group of neoplasms that affect the central nervous system and include some of the deadliest cancers. Almost all the conventional and new treatments fail to hinder tumoral growth of the most malignant brain ... ...

    Abstract Brain tumors are a large and heterogeneous group of neoplasms that affect the central nervous system and include some of the deadliest cancers. Almost all the conventional and new treatments fail to hinder tumoral growth of the most malignant brain tumors. This is due to multiple factors, such as intra-tumor heterogeneity, the microenvironmental properties of the human brain, and the lack of reliable models to test new therapies. Therefore, creating faithful models for each tumor and discovering tailored treatments pose great challenges in the fight against brain cancer. Over the years, different types of models have been generated, and, in this review, we investigated the advantages and disadvantages of the models currently used.
    Language English
    Publishing date 2022-05-30
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2452967-9
    ISSN 1662-5099
    ISSN 1662-5099
    DOI 10.3389/fnmol.2022.818696
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Exceptionally rare IDH1-mutant adult medulloblastoma with concurrent GNAS mutation revealed by in vivo magnetic resonance spectroscopy and deep sequencing.

    Liserre, Roberto / Branzoli, Francesca / Pagani, Francesca / Gryzik, Magdalena / Cominelli, Manuela / Miele, Evelina / Marjańska, Małgorzata / Doglietto, Francesco / Poliani, Pietro Luigi

    Acta neuropathologica communications

    2023  Volume 11, Issue 1, Page(s) 47

    Abstract: Medulloblastoma (MB) is the most common malignant brain tumor occurring in childhood and rarely found in adults. Based on transcriptome profile, MB are currently classified into four major molecular groups reflecting a considerable biological ... ...

    Abstract Medulloblastoma (MB) is the most common malignant brain tumor occurring in childhood and rarely found in adults. Based on transcriptome profile, MB are currently classified into four major molecular groups reflecting a considerable biological heterogeneity: WNT-activated, SHH-activated, group 3 and group 4. Recently, DNA methylation profiling allowed the identification of additional subgroups within the four major molecular groups associated with different clinic-pathological and molecular features. Isocitrate dehydrogenase-1 and 2 (IDH1 and IDH2) mutations have been described in several tumors, including gliomas, while in MB are rarely reported and not routinely investigated. By means of magnetic resonance spectroscopy (MRS), we unequivocally assessed the presence the oncometabolite D-2-hydroxyglutarate (2HG), a marker of IDH1 and IDH2 mutations, in a case of adult MB. Immunophenotypical work-up and methylation profiling assigned the diagnosis of MB, subclass SHH-A, and molecular testing revealed the presence of the non-canonical somatic IDH1(p.R132C) mutation and an additional GNAS mutation, also rarely described in MB. To the best of our knowledge, this is the first reported case of MB simultaneously harboring both mutations. Of note, tumor exhibited a heterogeneous phenotype with a tumor component displaying glial differentiation, with robust GFAP expression, and a component with conventional MB features and selective presence of GNAS mutation, suggesting co-existence of two different major tumor subclones. These findings drew attention to the need for a deeper genetic characterization of MB, in order to get insights into their biology and improve stratification and clinical management of the patients. Moreover, our results underlined the importance of performing MRS for the identification of IDH mutations in non-glial tumors. The use of throughput molecular profiling analysis and advanced medical imaging will certainly increase the frequency with which tumor entities with rare molecular alterations will be identified. Whether these findings have any specific therapeutic implications or prognostic relevance requires further investigations.
    MeSH term(s) Humans ; Medulloblastoma/diagnostic imaging ; Medulloblastoma/genetics ; Isocitrate Dehydrogenase/genetics ; Magnetic Resonance Spectroscopy/methods ; Glioma/genetics ; Brain Neoplasms/genetics ; Mutation/genetics ; Cerebellar Neoplasms/diagnostic imaging ; Cerebellar Neoplasms/genetics ; High-Throughput Nucleotide Sequencing ; Glutarates/metabolism ; Chromogranins/genetics ; GTP-Binding Protein alpha Subunits, Gs/genetics
    Chemical Substances Isocitrate Dehydrogenase (EC 1.1.1.41) ; Glutarates ; GNAS protein, human (EC 3.6.1.-) ; Chromogranins ; GTP-Binding Protein alpha Subunits, Gs (EC 3.6.5.1) ; IDH1 protein, human (EC 1.1.1.42.)
    Language English
    Publishing date 2023-03-20
    Publishing country England
    Document type Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2715589-4
    ISSN 2051-5960 ; 2051-5960
    ISSN (online) 2051-5960
    ISSN 2051-5960
    DOI 10.1186/s40478-023-01531-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Case report of a pediatric medulloblastoma with concurrent MYC and MYCN subclonal amplification in distinct populations of neoplastic cells.

    Minasi, Simone / Gianno, Francesca / Bargiacchi, Lavinia / Barresi, Valeria / Miele, Evelina / Antonelli, Manila / Buttarelli, Francesca Romana

    Virchows Archiv : an international journal of pathology

    2023  

    Abstract: Medulloblastomas (MDBs) are classified into molecular groups showing peculiar immunohistochemical and genetic features and distinct DNA methylation profile. Group 3 and group 4 MDBs have the worst prognosis; the former is treated with high-risk protocols ...

    Abstract Medulloblastomas (MDBs) are classified into molecular groups showing peculiar immunohistochemical and genetic features and distinct DNA methylation profile. Group 3 and group 4 MDBs have the worst prognosis; the former is treated with high-risk protocols and features MYC amplification, whereas the latter receives standard-risk protocols and harbors MYCN amplification. Herein, we report a unique case of MDB showing histological and immunohistochemical features consistent with non-SHH/non-WNT classic MDB, with both MYCN (30% of tumor cells) and MYC (5-10% tumor cells) amplification in distinct subclones of neoplastic cells at fluorescence in situ hybridization (FISH), characterized by specific patterns. In spite of MYC amplification in only a small percentage of tumor cells, this case had DNA methylation profile consistent with group 3, emphasizing the importance to test both MYC and MYCN amplifications at a single cell level using highly sensitive methods, such as FISH, for diagnostic and therapeutic purposes.
    Language English
    Publishing date 2023-05-22
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1184867-4
    ISSN 1432-2307 ; 0945-6317
    ISSN (online) 1432-2307
    ISSN 0945-6317
    DOI 10.1007/s00428-023-03560-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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