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Article
Open AccessDiffuse glioneuronal tumor with oligodendroglioma-like features and nuclear clusters (DGONC), new name and new problems: an illustration of one case with atypical morphology and biology
A novel histomolecular tumor of the central nervous system (CNS), the “diffuse glioneuronal tumor with oligodendroglioma-like features and nuclear clusters (DGONC),” has recently been identified, based on a di...
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Article
Open AccessCNS tumors with PLAGL1-fusion: beyond ZFTA and YAP1 in the genetic spectrum of supratentorial ependymomas
A novel methylation class, “neuroepithelial tumor, with PLAGL1 fusion” (NET-PLAGL1), has recently been described, based on epigenetic features, as a supratentorial pediatric brain tumor with recurrent histopathol...
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Article
Open AccessCNS erythroblastic sarcoma: a potential emerging pediatric tumor type characterized by NFIA::RUNX1T1/3 fusions
Erythroblastic sarcoma (ES) (previously called chloroma or granulocytic sarcoma) are rare hematological neoplams characterized by the proliferation of myeloid blasts at extramedullary sites, and primarily invo...
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Article
Open AccessReversible transitions between noradrenergic and mesenchymal tumor identities define cell plasticity in neuroblastoma
Noradrenergic and mesenchymal identities have been characterized in neuroblastoma cell lines according to their epigenetic landscapes and core regulatory circuitries. However, their relationship and relative c...
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Article
Open AccessCNS neuroblastoma, FOXR2-activated and its mimics: a relevant panel approach for work-up and accurate diagnosis of this rare neoplasm
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Article
Open AccessCNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population
The Central Nervous System (CNS) tumor with BCOR internal tandem duplication (ITD) has recently been added as a novel embryonal histomolecular tumor type to the 2021 World Health Organization (WHO) Classification...
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Article
An extracranial CNS presentation of the emerging “intracranial” mesenchymal tumor, FET: CREB-fusion positive
A novel histomolecular tumor, the “intracranial mesenchymal tumor (IMT), FET::CREB fusion-positive”, has recently been identified and added to the 2021 World Health Organization Classification of Tumors of the...
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Article
Tumour growth rate improves tumour assessment and first-line systemic treatment decision-making for immunotherapy in patients with liver metastatic uveal melanoma
The RECIST-based response variably matches the clinical benefit of systemic therapies for liver metastatic uveal melanoma (LMUM). The aims were to determine whether the tumour growth rate (TGR) can help predic...
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Article
Open AccessCNS tumors with YWHAE:NUTM2 and KDM2B-fusions present molecular similarities to extra-CNS tumors having BCOR internal tandem duplication or alternative fusions
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Article
Open AccessA novel SMARCA2-CREM fusion: expanding the molecular spectrum of intracranial mesenchymal tumors beyond the FET genes
A novel histomolecular tumor of the central nervous system, the “intracranial mesenchymal tumor (IMT), FET-CREB fusion-positive” has recently been identified in the literature and will be added to the 2021 World ...
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Article
Molecular description of meningeal solitary fibrous tumors/hemangiopericytomas compared to meningiomas: two completely separate entities
Meningeal solitary fibrous tumors (SFT), like all SFT, are defined by NAB2–STAT6 fusion and share clinicopathologic similarities with meningiomas, the most frequent meningeal tumors. Our aim is to establish th...
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Article
Open AccessThe EP300:BCOR fusion extends the genetic alteration spectrum defining the new tumoral entity of “CNS tumors with BCOR internal tandem duplication”
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Chapter
New Born and Infant Soft Tissue Sarcomas
Sarcomas occurring in children under 1 year old account for 8% of all pediatric soft tissue sarcomas. The clinical aspect is not specific and the imaging exams have many pitfalls making the precise diagnosis o...
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Article
SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation
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Article
Novel KHDRBS1-NTRK3 rearrangement in a congenital pediatric CD34-positive skin tumor: a case report
Cutaneous spindle-cell neoplasms in adults as well as children represent a frequent dilemma for pathologists. Along this neoplasm spectrum, the differential diagnosis with CD34-positive proliferations can be c...
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Article
Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite
Olivier Delattre and colleagues show that a Ewing sarcoma susceptibility variant at 10q21.3 influences EGR2 expression by altering the activity of an enhancer bound by EWSR1-FLI1. They further show that EGR2 k...
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Chapter
Basis for Molecular Genetics in Cancer
Oncogenesis is the process whereby normal cells are transformed into cancer cells. The multistep evolution is characterized by a progression of changes at the cellular, genetic, and epigenetic levels that ulti...
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Article
A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion
Olivier Delattre and colleagues report the discovery of a new subset of sarcoma defined by fusion of the BCOR and CCNB3 genes. By gene expression profiling, they show that BCOR-CCNB3–positive cases are biological...
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Article
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma
Neuroblastoma is the most common childhood cancer. There is a strong familial association and it was predicted over 30 years ago that there was a genetic element to the disease. Four groups now report the iden...
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Article
Open AccessIdentification of typical medullary breast carcinoma as a genomic sub-group of basal-like carcinomas, a heterogeneous new molecular entity
Typical medullary breast carcinoma (MBC) has recently been recognized to be part of the basal-like carcinoma spectrum, a feature in agreement with the high rate of TP53 mutations previously reported in MBCs. The ...
