Central nervous system high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR)—case-based reviews

Lima, Lazaro De; Sürme, Mehmet Beşir; Gessi, Marco; Mastronuzzi, Angela; Miele, Evelina; Tamburrini, Gianpiero; Massimi, Luca

doi:10.1007/s00381-020-04692-6

Cited by 21 publications

(30 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This patient from our cohort (patient no 3) has been described in a recent case series as one of the few cases already reported in the literature (almost 24 cases worldwide) [22], with, as expected, a higher refractory to treatments and a poor prognosis.…”

Section: Discussionsupporting

confidence: 73%

See 1 more Smart Citation

Molecular Landscape in Infant High-Grade Gliomas: A Single Center Experience

et al. 2022

Self Cite

View full text Add to dashboard Cite

High-grade gliomas (HGG) represent about 15% of all pediatric brain tumors, with a dismal prognosis and survival rates ranging from 15 to 35%. Approximately 10–12% of pediatric HGGs (pHGG) occur in children younger than five years of age at diagnosis, specifically infants (iHGG), with an unexpected overall survival rate (OS) in 60–70% of cases. In the literature, iHGGs include a large variety of heterogeneous lesions with different molecular profiles that likely explain their different outcomes. We report our single-institution experience of iHGG including 11 children under five years of age with newly diagnosed HGG between 2011 and 2021. All patients received surgery and adjuvant chemotherapy; only two patients received radiotherapy because their age at diagnosis was more than four years-old. Molecular investigations, including next generation sequencing (NGS) and DNA methylation, detected three NTRK-fusions, one ROS1-fusions, one MN1-rearrangement, and two PATZ1-fusions. According to the molecular results, when chemotherapy failed to control the disease, two patients benefited from target therapy with a NTRK-Inhibitor larotrectinib, achieving a complete remission and a very good partial response, respectively, and no severe side-effects. In conclusion, molecular investigations play a fundamental role in the diagnostic work-up and also in the therapeutic decision. Their routine use in clinical practice could help to replace highly toxic chemotherapy regimens with a target therapy that has moderate adverse effects, even in long-term follow-up.

show abstract

Section: Discussionsupporting

confidence: 73%

“…After the third relapse was radiologically documented, the patient experienced another GTR, but no treatment was started due to rapid progressive leptomeningeal dissemination. He died 64 months after primary diagnosis [ 22 ].…”

Section: Resultsmentioning

confidence: 99%

Molecular Landscape in Infant High-Grade Gliomas: A Single Center Experience

et al. 2022

Self Cite

View full text Add to dashboard Cite

show abstract

“…Therefore, only a few case series describing its imaging features exist. 6,7,[10][11][12][13] In our international cohort of 25 patients, we found that these were supratentorial, often large, multilobulated tumors with little-orno perifocal edema. Tumors nearly always showed a mix of solid and cystic/necrotic components.…”

Section: Discussionmentioning

confidence: 71%

“…Of these tumors, CNS NB-FOXR2 is the only type that, to the best of our knowledge, has exclusively presented in a supratentorial location, whereas the other tumor types can develop infratentorially with varying frequencies. 4,10,11,[13][14][15][16][17][18][19] In addition, patient age may help with differentiation because the median age at diagnosis for patients with CNS NB-FOXR2 is 5 years (range, 1-20 years), while patients rarely present within the first 2 years of life. 4 In contrast, patients with ATRT are typically younger than 2 years of age, with 33% younger than 1 year of age at diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Imaging Characteristics of CNS Neuroblastoma-FOXR2: A Retrospective and Multi-Institutional Description of 25 Cases

Tietze¹,

Mankad

Lequin

et al. 2022

AJNR Am J Neuroradiol

View full text Add to dashboard Cite

BACKGROUND AND PURPOSE: The 5th edition of the World Health Organization Classification of CNS tumors defines the CNS neuroblastoma FOXR2 in the group of embryonal tumors. Published clinical outcomes tend to suggest a favorable outcome after resection, craniospinal irradiation, and chemotherapy. This multicenter study aimed to describe imaging features of CNS neuroblastoma-FOXR2, which have been poorly characterized thus far. MATERIALS AND METHODS:On the basis of a previously published cohort of tumors molecularly classified as CNS neuroblastoma-FOXR2, patients with available imaging data were identified. The imaging features on preoperative MR imaging and CT data were recorded by 8 experienced pediatric neuroradiologists in consensus review meetings.RESULTS: Twenty-five patients were evaluated (13 girls; median age, 4.5 years). The tumors were often large (mean, 115 [ SD, 83] mL), showed no (24%) or limited (60%) perilesional edema, demonstrated heterogeneous enhancement, were often calcified and/or hemorrhagic (52%), were always T2WI-hyperintense to GM, and commonly had cystic and/or necrotic components (96%). The mean ADC values were low (687.8 [SD 136.3] Â 10 À6 mm 2 /s). The tumors were always supratentorial. Metastases were infrequent (20%) and, when present, were of nodular appearance and leptomeningeal. CONCLUSIONS:In our cohort, CNS neuroblastoma FOXR2 tumors showed imaging features suggesting high-grade malignancy and, at the same time, showed characteristics of less aggressive behavior. There are important differential diagnoses, but the results of this study may assist in considering this diagnosis preoperatively.

show abstract

“…Thus far, 27 cases of CNS tumor with BCOR ITD have been reported. [3][4][5][6][7][8][9][10][11][12][13] Including our case (28 cases in total), the patients' age ranges from 7 months to 22 years (mean 5.3 years). The most common site is the posterior fossa (19/28, 67.9%), followed by the frontal lobe (6/28, 21.4%), and other areas including the parietooccipital lobe (1), the temporal lobe (1), and the basal ganglia (1).…”

Section: Discussionmentioning

confidence: 99%

CNS Tumor with BCOR Internal Tandem Duplication: The First Case in Southeast Asia

2022

bkkmedj

View full text Add to dashboard Cite

The central nervous system (CNS) tumor with BCOR internal tandem duplication (ITD) or high-grade neuroepithelial tumor with BCOR alterations (HGNET-BCOR) has been proposed as a new entity of CNS embryonal tumor. We report herein the first case of CNS tumor with BCOR ITD in Southeast Asia. The patient was a 2-year-old girl who presented with head tilt and ataxia. CNS showed a posterior fossa mass, 5.7x5.2x4.2 cm, with faint enhancement and internal hemorrhage. The lesion was removed, and the pathological examination revealed a hypercellular tumor comprising neoplastic cells with oval hyperchromatic nuclei. Perivascular pattern was occasionally observed. Pseudopalisading necrosis was seen but microvascular proliferation was absent. Although the clinical features of HGNET-BCOR are not distinctive and may overlap with other high-grade primary CNS tumors, awareness of the pathological features and the positive BCOR immunostain should lead to a final diagnosis with the identification of BCOR ITD using a molecular method.

show abstract

Central nervous system high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR)—case-based reviews

Cited by 21 publications

References 17 publications

Molecular Landscape in Infant High-Grade Gliomas: A Single Center Experience

Molecular Landscape in Infant High-Grade Gliomas: A Single Center Experience

Imaging Characteristics of CNS Neuroblastoma-FOXR2: A Retrospective and Multi-Institutional Description of 25 Cases

CNS Tumor with BCOR Internal Tandem Duplication: The First Case in Southeast Asia

Contact Info

Product

Resources

About