Hemorrhagic Suprasellar Central Nervous System Embryonal Tumor in an Adult: Uncommon Features of an Extremely Rare Neoplasm

2021 ◽  
Author(s):  
Martina Piloni ◽  
Filippo Gagliardi ◽  
Michele Bailo ◽  
Lina Raffaella Barzaghi ◽  
Marcella Callea ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Who Classification ◽  
Optic Chiasm ◽  
World Health ◽  
Embryonal Tumors ◽  
Embryonal Tumor ◽  
First Case ◽  
Diffusion Pattern

Abstract Background Occurrences of suprasellar central nervous system (CNS) embryonal tumors in adults are extremely rare. Hemorrhagic onset is further uncommon, with only anecdotic cases reported in the literature. The authors describe the case of a 57-year-old man affected by a suprasellar CNS embryonal tumor, with hemorrhagic onset and a unique diffusion pattern along the optic pathways. Material and Methods A 57-year-old man presenting with acute visual acuity worsening and left homonymous hemianopia was referred to our hospital. Neuroradiologic studies demonstrated an infiltrating, high-grade lesion involving the optic chiasm and right retrochiasmatic pathways with a hemorrhagic area in the ipsilateral pulvinar. Results The patient underwent microsurgical biopsy. Pathologic assessment confirmed the diagnosis of CNS embryonal tumor, not otherwise specified (NOS) according to the 2016 World Health Organization (WHO) classification of CNS tumors. The patient was referred to a multimodal adjuvant treatment; he eventually died 4 months after surgery. Competent literature has been systematically reviewed in the light of the relevant changes made in the last version of the WHO classification. Conclusion Embryonal tumors should be considered in the differential diagnosis for sellar and suprasellar space-occupying lesions, despite the rarity of the disease and the uncommon features at time of presentation. As per our knowledge, this is the first case ever described of hemorrhagic suprasellar embryonal tumor with a diffusion pattern along white matter fibers. Histogenesis, biomolecular and neuroradiologic features, and classification of embryonal tumors are an open field of research, with considerable implications for the definition of better diagnostic pitfalls and therapeutic regimens.

scholarly journals Case Report: A Unique Case of Pediatric Central Nervous System Embryonal Tumor Harboring the CIC–LEUTX Fusion, Germline NBN Variant and Somatic TSC2 Mutation: Expanding the Spectrum of CIC-Rearranged Neoplasia

2020 ◽  
Vol 10 ◽  
Author(s):  
Wanming Hu ◽  
Juan Wang ◽  
Li Yuan ◽  
Xing Zhang ◽  
Yuhang Ji ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Gene Fusion ◽  
World Health ◽  
Maximum Diameter ◽  
Proliferation Index ◽  
Embryonal Tumors ◽  
Embryonal Tumor ◽  
Poorly Differentiated

Central nervous system (CNS) embryonal tumors (WHO grade IV) are a heterogeneous group of rare, poorly differentiated neuroepithelial malignant neoplasms that commonly occur in children, and they have a poor prognosis. The 2016 WHO (World Health Organization) classification of CNS tumors created a major shift in paradigm of the classification of embryonal tumors. However, some cases were still difficult to classify. Further integrative genomic analysis is needed to improve the precise classification, diagnosis and treatment of CNS embryonal tumors. Herein, we firstly report a case of CNS embryonal tumor harboring the pathogenic CIC–LEUTX gene fusion. A 2-year-old male infant presented with a solid cystic mass in the left temporal lobe-basal ganglia and left parietal lobe (maximum diameter, 75 mm) and underwent gross tumor resection. The tumor was classified as a poorly differentiated embryonal neoplasm of neuroectodermal origin that lacked specific features and rosettes. By immunohistochemistry, the tumor cells were strongly positive for synaptophysin, and the Ki67 proliferation index was high (>50%). FISH (Fluorescence in situ hybridization) results indicated no change in the copy number at the 19q13.42 C19MC locus. Next generation sequencing showed a CIC–LEUTX gene fusion, a somatic TSC2 c.G2714A mutation, and a heterozygous germline NBN c.C127T mutation. One month after surgery, there was recurrence of the intracranial tumor (maximum diameter, 55 mm) as well as spinal cord implantation metastasis. The patient received chemotherapy (CTX+CBP+VCR/DDP+VP-16), radiotherapy, and a drug targeting the TSC2 gene (everolimus). At the time of this writing, the patient is alive without evidence of disease for 11 months. This is the first report of the CIC–LEUTX gene fusion in a case of CNS embryonal tumor.

Surgical Neuropathology Update: A Review of Changes Introduced by the WHO Classification of Tumours of the Central Nervous System, 4th Edition

2008 ◽  
Vol 132 (6) ◽  
pp. 993-1007 ◽  
Author(s):  
Daniel J. Brat ◽  
Joseph E. Parisi ◽  
Bette K. Kleinschmidt-DeMasters ◽  
Anthony T. Yachnis ◽  
Thomas J. Montine ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Brain Tumors ◽  
Who Classification ◽  
World Health ◽  
Central Nervous System Neoplasms ◽  
Genetic Syndrome ◽  
Blue Book ◽  
The Central Nervous System

Abstract Context.—The World Health Organization (WHO) recently published its 4th edition of the classification of tumors of the central nervous system, incorporating a substantial number of important changes to the previous version (WHO 2000). The new WHO classification introduces 7 changes in the grading of central nervous system neoplasms, ranging in significance from minor to major, in categories of anaplastic oligoastrocytomas, meningiomas, choroid plexus tumors, pineal parenchymal tumors, ganglioglioma, cerebellar liponeurocytoma, and hemangiopericytomas. The 4th edition also introduces 10 newly codified entities, variants, and patterns, as well as 1 new genetic syndrome. A number of established brain tumors are reorganized, including medulloblastomas and primitive neuroectodermal tumors, in an attempt to more closely align classification with current understanding of central nervous system neoplasia. Objective.—To summarize and discuss the most significant updates in the 4th edition for the practicing surgical pathologist, including (1) changes in grading among established entities; (2) newly codified tumor entities, variants, patterns, and syndromes; and (3) changes in the classification of existing brain tumors. Data Sources.—The primary source for this review is the WHO Classification of Tumours of the Central Nervous System, 4th edition. Other important sources include the 3rd edition of this book and the primary literature that supported changes in the 4th edition. Conclusions.—The new edition of the WHO blue book reflects advancements in the understanding of brain tumors in terms of classification, grading, and new entities. The changes introduced are substantial and will have an impact on the practice of general surgical pathologists and neuropathologists.

scholarly journals PS2 - 195 Integrating Molecular Workings into the World Health Organization (WHO) Classification of Tumours of the Central Nervous System: A Survey from the Neuro-Oncology Community

2016 ◽  
Vol 43 (S4) ◽  
pp. S16-S16
Author(s):  
R. Nejad ◽  
D.N. Louis ◽  
K. Aldape ◽  
G. Zadeh
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Molecular Markers ◽  
Brain Tumors ◽  
Who Classification ◽  
Strong Support ◽  
Molecular Classification ◽  
World Health ◽  
The Central Nervous System

Tumours of the central nervous system are currently classified based on the 2007 WHO Classification of Tumours, which uses histological features to classify and grade these heterogeneous tumors. With recent advances in the development of clinically relevant molecular signatures, there is an interest to incorporate appropriate molecular markers in to the classification. The views of the neuro-oncology community on such changes would be informative for advising this process. METHODS A survey with 8 questions regarding molecular markers in tumor classification was sent to an email list of Society of Neuro-Oncology members and attendees of prior meetings (n=5065). There were 403 respondents. Analysis was performed using whole group response and based on self-reported sub-specialty. RESULTS Survey results among all respondents show support for incorporating our molecular knowledge of brain tumors into the WHO classification (>80%). As one example, 96% of respondents responded that the integration of 1p/19q co-deletion into the molecular classification of oligodendroglioma was “very” or “critically” important for the management of grade III gliomas. While 30% of all respondents believe that IDH mutation status should affect overall management of GBM. Interestingly, there was some variability among sub-specialties for certain aspects, and as one example neuropathologists were slightly more inclined to disagree that molecular markers should be included in the WHO classification (25% for neuropathologists versus 13% overall). CONCLUSION Based on a survey provided to the neuro-oncology community, we report strong support for the integration of molecular markers into the WHO classification of brain tumors, as well as for using an integrated “layered” diagnostic format.

EPID-26. ALIGNING THE CBTRUS HISTOLOGY GROUPS WITH 2016 WHO CLASSIFICATION OF TUMORS OF THE CENTRAL NERVOUS SYSTEM

2021 ◽  
Vol 23 (Supplement_6) ◽  
pp. vi91-vi91
Author(s):  
Carol Kruchko ◽  
Nirav Patil ◽  
Gino Cioffi ◽  
Daniel Brat ◽  
Janet Bruner ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Who Classification ◽  
The United States ◽  
Cns Tumors ◽  
World Health ◽  
Mesenchymal Tumors ◽  
The Central Nervous System ◽  
Health Organization

Abstract BACKGROUND The Central Brain Tumor Registry of the United States (CBTRUS) uses a histology grouping scheme modeled after the World Health Organization (WHO) Classification of Tumours of the Central Nervous System (CNS) to classify cancer registry records for clinically relevant statistical reporting. Molecular studies have identified genetic features which precisely stratify tumor types, resulting in the 2016 update to the WHO Classification incorporating these markers. To continue providing clinically relevant statistics, the histology groupings have been aligned with the 2016 update. Resulting changes to groupings were assessed. METHODS In collaboration with four consulting neuropathologists the scheme was reviewed and realigned to the 2016 update. Obsolete histology nomenclature and ICD-O-3 codes were identified. Evaluation of the frequency of affected codes in the 2013-2017 data was conducted. RESULTS 417,767 total cases of primary brain and CNS tumors were diagnosed during 2013-2017 in the US. After review of the CBTRUS grouping scheme, 67 codes were noted to be obsolete, 51 codes were re-classified and 12 new codes were incorporated. This reorganization could result in grouping assignment or reporting changes for 2,588 cases (0.6%). The histology groups most significantly affected were mesenchymal tumors and neuronal and mixed neuronal glial tumors. CONCLUSIONS The 2016 revision to WHO Classification has affected collection and reporting of CNS tumors. The CBTRUS data edits program is now undergoing revision, which will become the basis of reporting. Some histology-specific molecular markers require additional data to distinguish between cases. In collaboration with CBTRUS, the NAACCR SSDI Committee developed a new variable for collection of molecular information. This variable was included in Uniform Data Standards beginning on January 1, 2018 and will be available for reporting in 2021. A 2021 update to the WHO Classification is scheduled for release later this year, requiring further classification updates.

The 2016 World Health Organization classification of tumours of the central nervous system

2018 ◽  
Vol 47 (11-12) ◽  
pp. e187-e200 ◽  
Author(s):  
Chiara Villa ◽  
Catherine Miquel ◽  
Dominic Mosses ◽  
Michèle Bernier ◽  
Anna Luisa Di Stefano
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
World Health Organization ◽  
World Health ◽  
World Health Organization Classification ◽  
The Central Nervous System ◽  
Health Organization
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