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Article
Open AccessGenomic characterization of DICER1-associated neoplasms uncovers molecular classes
DICER1 syndrome is a tumor predisposition syndrome that is associated with up to 30 different neoplastic lesions, usually affecting children and adolescents. Here we identify a group of mesenchymal tumors whic...
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Article
Open AccessDNA-methylome-assisted classification of patients with poor prognostic subventricular zone associated IDH-wildtype glioblastoma
Glioblastoma (GBM) derived from the “stem cell” rich subventricular zone (SVZ) may constitute a therapy-refractory subgroup of tumors associated with poor prognosis. Risk stratification for these cases is nece...
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Article
Open AccessOligosarcomas, IDH-mutant are distinct and aggressive
Oligodendrogliomas are defined at the molecular level by the presence of an IDH mutation and codeletion of chromosomal arms 1p and 19q. In the past, case reports and small studies described gliomas with sarcom...
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Article
Open AccessSarcoma classification by DNA methylation profiling
Sarcomas are malignant soft tissue and bone tumours affecting adults, adolescents and children. They represent a morphologically heterogeneous class of tumours and some entities lack defining histopathological...
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Article
Primary pulmonary myxoid sarcoma with an unusual gene fusion between exon 7 of EWSR1 and exon 5 of CREB1
Primary pulmonary mesenchymal tumors are rare, yet they compromise a variety of entities. A novel low-grade malignant neoplasm coined primary pulmonary myxoid sarcoma (PPMS) has been introduced in the WHO clas...
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Article
DNA methylation-based profiling of uterine neoplasms: a novel tool to improve gynecologic cancer diagnostics
Uterine neoplasms comprise a broad spectrum of lesions, some of which may pose a diagnostic challenge even to experienced pathologists. Recently, genome-wide DNA methylation-based classification of central ner...
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Article
Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course
The “isomorphic subtype of diffuse astrocytoma” was identified histologically in 2004 as a supratentorial, highly differentiated glioma with low cellularity, low proliferation and focal diffuse brain infiltrat...
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Article
Routine RNA sequencing of formalin-fixed paraffin-embedded specimens in neuropathology diagnostics identifies diagnostically and therapeutically relevant gene fusions
Molecular markers have become pivotal in brain tumor diagnostics. Mutational analyses by targeted next-generation sequencing of DNA and array-based DNA methylation assessment with copy number analyses are incr...
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Article
Open AccessTumors diagnosed as cerebellar glioblastoma comprise distinct molecular entities
In this multi-institutional study we compiled a retrospective cohort of 86 posterior fossa tumors having received the diagnosis of cerebellar glioblastoma (cGBM). All tumors were reviewed histologically and su...
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Article
DNA methylation profiling distinguishes Ewing-like sarcoma with EWSR1–NFATc2 fusion from Ewing sarcoma
Recent studies revealed divergent gene expression patterns in Ewing sarcoma (EwS) with canonical EWSR1–ETS gene fusions and undifferentiated round cell sarcomas (URCS) with EWSR1 rearrangements fused to the non-E...
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Article
Papillary glioneuronal tumor (PGNT) exhibits a characteristic methylation profile and fusions involving PRKCA
Papillary glioneuronal tumor (PGNT) is a WHO-defined brain tumor entity that poses a major diagnostic challenge. Recently, SLC44A1–PRKCA fusions have been described in PGNT. We subjected 28 brain tumors from diff...
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Article
Primary intracranial sarcomas with DICER1 mutation often contain prominent eosinophilic cytoplasmic globules and can occur in the setting of neurofibromatosis type 1
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Article
Open AccessGenome-wide methylation profiling and copy number analysis in atypical fibroxanthomas and pleomorphic dermal sarcomas indicate a similar molecular phenotype
Atypical fibroxanthomas (AFX) and pleomorphic dermal sarcomas (PDS) are lesions of the skin with overlap** histologic features and unspecific molecular traits. PDS behaves aggressive compared to AFX. Thus, a...
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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
DNA methylation-based reclassification of olfactory neuroblastoma
Olfactory neuroblastoma/esthesioneuroblastoma (ONB) is an uncommon neuroectodermal neoplasm thought to arise from the olfactory epithelium. Little is known about its molecular pathogenesis. For this study, a r...
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Article
Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations
Patients with DICER1 predisposition syndrome have an increased risk to develop pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, and several other rare tumor entities. In this study, we ident...
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Article
Open AccessPractical implementation of DNA methylation and copy-number-based CNS tumor diagnostics: the Heidelberg experience
Recently, we described a machine learning approach for classification of central nervous system tumors based on the analysis of genome-wide DNA methylation patterns [6]. Here, we report on DNA methylation-based c...
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Article
Novel, improved grading system(s) for IDH-mutant astrocytic gliomas
According to the 2016 World Health Organization Classification of Tumors of the Central Nervous System (2016 CNS WHO), IDH-mutant astrocytic gliomas comprised WHO grade II diffuse astrocytoma, IDH-mutant (AIIIDHm...
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Article
Open AccessRecurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants
Soft tissue tumors of infancy encompass an overlap** spectrum of diseases that pose unique diagnostic and clinical challenges. We studied genomes and transcriptomes of cryptogenic congenital mesoblastic neph...
