scholarly journals Central Nervous System Embryonal Tumor with Rhabdoid Features

2020 ◽  
Author(s):  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Embryonal Tumor ◽  
Rhabdoid Features

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.

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 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.

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