38 Result(s)
within
Caterina Giannini
Neurosciences
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Article
Open AccessMolecular and clinicopathologic characteristics of CNS embryonal tumors with BRD4::LEUTX fusion
Central nervous system (CNS) embryonal tumors are a heterogeneous group of high-grade malignancies, and the increasing clinical use of methylation profiling and next-generation sequencing has led to the identi...
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Article
Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1
High-grade astrocytoma with piloid features (HGAP) is a recently recognized glioma type whose classification is dependent on its global epigenetic signature. HGAP is characterized by alterations in the mitogen...
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Article
Molecular and clinicopathologic characteristics of gliomas with EP300::BCOR fusions
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Article
Recurrent ACVR1 mutations in posterior fossa ependymoma
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Article
DNA methylation analysis of glioblastomas harboring FGFR3-TACC3 fusions identifies a methylation subclass with better patient survival
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Article
High-grade glioma with pleomorphic and pseudopapillary features (HPAP): a proposed type of circumscribed glioma in adults harboring frequent TP53 mutations and recurrent monosomy 13
Tumors of the central nervous system (CNS) often display a wide morphologic spectrum that has, until recently, been the sole basis for tumor classification. The introduction of the integrated histomolecular di...
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Article
Open AccessGenetic and epigenetic characterization of posterior pituitary tumors
Pituicytoma (PITUI), granular cell tumor (GCT), and spindle cell oncocytoma (SCO) are rare tumors of the posterior pituitary. Histologically, they may be challenging to distinguish and have been proposed to re...
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Article
Subgroup and subtype-specific outcomes in adult medulloblastoma
Medulloblastoma, a common pediatric malignant central nervous system tumour, represent a small proportion of brain tumours in adults. Previously it has been shown that in adults, Sonic Hedgehog (SHH)-activated...
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Article
Concomitant 1p/19q co-deletion and IDH1/2, ATRX, and TP53 mutations within a single clone of “dual-genotype” IDH-mutant infiltrating gliomas
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Article
cIMPACT-NOW update 5: recommended grading criteria and terminologies for IDH-mutant astrocytomas
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Article
Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults
Atypical teratoid/rhabdoid tumor (ATRT) is a highly malignant brain tumor predominantly occurring in infants. Mutations of the SMARCB1 gene are the characteristic genetic lesion. SMARCB1-mutant tumors in adolesce...
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Article
Plenty of calcification: imaging characterization of polymorphous low-grade neuroepithelial tumor of the young
Polymorphous low-grade neuroepithelial tumor of the young (PLNTY) is a recently described epileptogenic neoplasm. As the name implies, PLNTYs are indolent tumors most often encountered in the pediatric or youn...
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Article
Open AccessTelomere alterations in neurofibromatosis type 1-associated solid tumors
The presence of Alternative lengthening of telomeres (ALT) and/or ATRX loss, as well as the role of other telomere abnormalities, have not been formally studied across the spectrum of NF1-associated solid tumo...
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Article
Open AccessThe impact of histopathology and NAB2–STAT6 fusion subtype in classification and grading of meningeal solitary fibrous tumor/hemangiopericytoma
Meningeal solitary fibrous tumor (SFT)/hemangiopericytoma (HPC) is a rare tumor with propensity for recurrence and metastasis. Although multiple classification schemes have been proposed, optimal risk stratifi...
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Article
Anaplastic astrocytoma with piloid features, a novel molecular class of IDH wildtype glioma with recurrent MAPK pathway, CDKN2A/B and ATRX alterations
Tumors with histological features of pilocytic astrocytoma (PA), but with increased mitotic activity and additional high-grade features (particularly microvascular proliferation and palisading necrosis) have o...
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Article
FGFR1:TACC1 fusion is a frequent event in molecularly defined extraventricular neurocytoma
Extraventricular neurocytoma (EVN) is a rare primary brain tumor occurring in brain parenchyma outside the ventricular system. Histopathological characteristics resemble those of central neurocytoma but exhibi...
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Article
Heterogeneity within the PF-EPN-B ependymoma subgroup
Posterior fossa ependymoma comprise three distinct molecular variants, termed PF-EPN-A (PFA), PF-EPN-B (PFB), and PF-EPN-SE (subependymoma). Clinically, they are very disparate and PFB tumors are currently bei...
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Article
cIMPACT-NOW update 2: diagnostic clarifications for diffuse midline glioma, H3 K27M-mutant and diffuse astrocytoma/anaplastic astrocytoma, IDH-mutant
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cIMPACT-NOW update 1: Not Otherwise Specified (NOS) and Not Elsewhere Classified (NEC)
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Article
Circumscribed/non-diffuse histology confers a better prognosis in H3K27M-mutant gliomas
