A novel central nervous system embryonal tumor successfully treated with multi‐modal therapy highlights limitation of methylation‐based tumor classification

2021 ◽  
Author(s):  
Ritu Lamichhane ◽  
Paromita Roy ◽  
Cynthia Hawkins ◽  
Lateef Zameer ◽  
Anisha Gehani ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Tumor Classification ◽  
Embryonal Tumor

scholarly journals Central liponeurocytoma: Case report and review of literature

2012 ◽  
Vol 01 (01) ◽  
pp. 083-085 ◽  
Author(s):  
Pankaj Ailawadhi ◽  
M.C. Sharma ◽  
A.K. Mahapatra ◽  
P. Sarat Chandra
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Tumor Classification ◽  
Central Nervous System Tumor ◽  
The Central Nervous System ◽  
Cerebellar Liponeurocytoma ◽  
Classification Of Tumors ◽  
System Tumor ◽  
Well Differentiated ◽  
Glioneuronal Tumors

Abstract Cerebellar liponeurocytoma consists of well-differentiated neurons with the cytology of neurocytes in addition to a population of lipidized cells. Hence it is biphasic in appearance and has been included in the category of glioneuronal tumors of the central nervous system by the WHO working group on the Classification of Tumors of the Nervous System. However, liponeurocytoma is not exclusive to the cerebellar or fourth ventricular location. Since its inclusion in the central nervous system tumor classification, nine cases with similar histological and immunohistochemical features have also been described in the lateral ventricles. We describe here such a lateral ventricular tumour in a 30-year-old woman, characteristically showing divergent glio-neuronal differentiation and lipidized neoplastic cells. Therefore, we suggest that future WHO tumor classification should consider that liponeurocytomas are not entirely restricted to the cerebellum and henceforth change of nomenclature might be considered, as also pointed out by other authors.

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 Atypical teratoid/rhabdoid tumor: A rare case report

2017 ◽  
Vol 5 (3) ◽  
pp. 70-72
Author(s):  
R Shrestha ◽  
S Gauchan ◽  
A K Jha
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Rare Case ◽  
Primitive Neuroectodermal Tumor ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Embryonal Tumor ◽  
Rare Case Report ◽  
Atypical Teratoid ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors

Atypical Teratoid/Rhabdoid Tumors (AT/RTs) is rare, highly malignant embryonal tumor of central nervous system that predominantly occurs in infancy and young children. The majority of tumors arise (approximately two-third) in the posterior fossa. The diagnosis of AT/RTs relies predominantly on morphologic and immunohistochemical criteria. The most common differential diagnosis are Primitive Neuroectodermal Tumor and malignant glioma. Herein we present a case of 5 year old child who initially presented with headache and vomiting.

Central Nervous System Tumor Classification

2021 ◽  
Author(s):  
Roger E. McLendon ◽  
Anthony T. Yachnis ◽  
Christopher Ryan Miller ◽  
Ho- Keung Ng
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Tumor Classification ◽  
Central Nervous System Tumor ◽  
System Tumor

Pontine Embryonal Tumor With Multilayered Rosettes: An Autopsy Case Exhibiting Extensive Posttreatment Glial and Neuronal Maturation

2020 ◽  
Vol 23 (4) ◽  
pp. 326-331
Author(s):  
Adrian Levine ◽  
Juliette Hukin ◽  
Christopher Dunham
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Diffuse Intrinsic Pontine Glioma ◽  
Neurological Deficits ◽  
Neuronal Maturation ◽  
Mirna Cluster ◽  
Central Nervous System Tumor ◽  
Embryonal Tumor ◽  
Tumor Biopsy ◽  
History Of

Embryonal tumor with multilayered rosettes (ETMR) is a rare and highly aggressive embryonal central nervous system tumor that primarily affects young children. It is characterized by (1) amplification of the C19MC miRNA cluster at 19q13.42 and (2) immunohistochemical tumor cell positivity for LIN28A. We describe the case of a 3-year-old girl who presented with a 2-week history of multiple neurological deficits. Based primarily on imaging findings that revealed a large pontine tumor, biopsy was not performed and the patient was clinically diagnosed with a “diffuse intrinsic pontine glioma.” She was subsequently treated with radiation and concurrent adjuvant temozolomide, but unfortunately there was minimal response and the patient died 6 months after diagnosis. Autopsy revealed an ETMR that was confirmed via C19MC fluorescence in situ hybridization and LIN28 immunohistochemistry. Although widespread central nervous system dissemination was observed, large portions of the main pontine mass exhibited evidence of extensive glial and neuronal maturation (ie, differentiation). We consider this tissue “maturation” to have been induced by chemotherapy and radiation. Herein, we discuss the importance of antemortem biopsy of intrinsic pontine tumors and the clinical significance of glial and neuronal maturation post therapy in the context of ETMR.

scholarly journals Embryonal tumor with multilayered rosettes of the fourth ventricle: case report

2015 ◽  
Vol 16 (5) ◽  
pp. 579-583 ◽  
Author(s):  
Catherine A. Edmonson ◽  
Kristin J. Weaver ◽  
Jesse Kresak ◽  
David W. Pincus
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Case Report ◽  
Fourth Ventricle ◽  
Molecular Mechanisms ◽  
Clinical Course ◽  
Molecular Profile ◽  
Central Nervous System Tumors ◽  
Embryonal Tumor ◽  
Nervous System Tumors

Embryonal tumor with multilayered rosettes (ETMR) is a recently described pathological entity. These primitive central nervous system tumors harbor amplification of the 19q13.42 locus and resultant overexpression of the LIN28A protein. Although the WHO currently recognizes 3 distinct histopathological entities—embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma—recent studies indicate that these tumors have a common molecular profile and clinical course and that they are now classified as a single entity. Here the authors present a case of ETMR located in the fourth ventricle in a 12-month-old boy. The histopathology featured areas of neuropil-like stroma and highly cellular foci with characteristic multilayered rosettes. The authors discuss the clinical, radiological, and histopathological findings in this case and compare them with data in previously published cases in the literature. A review of studies assessing the molecular mechanisms underlying these tumors is also presented.

scholarly journals The central nervous system tumor methylation classifier changes neuro-oncology practice for challenging brain tumor diagnoses and directly impacts patient care

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Shirin Karimi ◽  
Jeffrey A. Zuccato ◽  
Yasin Mamatjan ◽  
Sheila Mansouri ◽  
Suganth Suppiah ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Central Nervous System ◽  
Nervous System ◽  
Patient Care ◽  
Classification Systems ◽  
Tumor Classification ◽  
Tumor Board ◽  
Molecular Diagnostic ◽  
Cns Tumor ◽  
Methylation Profiling

Abstract Background Molecular signatures are being increasingly incorporated into cancer classification systems. DNA methylation-based central nervous system (CNS) tumor classification is being recognized as having the potential to aid in cases of difficult histopathological diagnoses. Here, we present our institutional clinical experience in integrating a DNA-methylation-based classifier into clinical practice and report its impact on CNS tumor patient diagnosis and treatment. Methods Prospective case review was undertaken at CNS tumor board discussions over a 3-year period and 55 tumors with a diagnosis that was not certain to two senior neuropathologists were recommended for methylation profiling based on diagnostic needs. Tumor classification, calibrated scores, and copy number variant (CNV) plots were obtained for all 55 cases. These results were integrated with histopathological findings to reach a final diagnosis. We retrospectively reviewed each patient's clinical course to determine final neuro-pathology diagnoses and the impact of methylation profiling on their clinical management, with a focus on changes that were made to treatment decisions. Results Following methylation profiling, 46 of the 55 (84%) challenging cases received a clinically relevant diagnostic alteration, with two-thirds having a change in the histopathological diagnosis and the other one-third obtaining clinically important molecular diagnostic or subtyping alterations. WHO grading changed by 27% with two-thirds receiving a higher grade. Patient care was directly changed in 15% of all cases with major changes in clinical decision-making being made for these patients to avoid unnecessary or insufficient treatment. Conclusions The integration of methylation-based CNS tumor classification into diagnostics has a substantial clinical benefit for patients with challenging CNS tumors while also avoiding unnecessary health care costs. The clinical impact shown here may prompt the expanded use of DNA methylation profiling for CNS tumor diagnostics within prominent neuro-oncology centers globally.

Sign in / Sign up

Export Citation Format

Share Document