scholarly journals A novel SMARCA2-CREM fusion: expanding the molecular spectrum of intracranial mesenchymal tumors beyond the FET genes

2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Arnault Tauziède-Espariat ◽  
Gaëlle Pierron ◽  
Delphine Guillemot ◽  
Philipp Sievers ◽  
Dominique Cazals-Hatem ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Central Nervous System ◽  
Nervous System ◽  
Soft Tissue ◽  
Clear Cell ◽  
Clear Cell Sarcoma ◽  
World Health ◽  
Tumor Type ◽  
Cell Sarcoma ◽  
The Central Nervous System

AbstractA 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 Health Organization Classification of Tumors of the Central Nervous System. However, our latest study using DNA-methylation analyses has revealed that intracranial FET-CREB fused tumors do not represent a single molecular tumor entity. Among them, the main subgroup presented classical features of angiomatoid fibrous histiocytoma, having ultrastructural features of arachnoidal cells, for. Another tumor type with clear cell component and histopathological signs of aggressivity clustered in close vicinity with clear cell sarcoma of soft tissue. Herein, we report one case of IMT with a novel SMARCA2-CREM fusion which has until now never been described in soft tissue or the central nervous system. We compare its clinical, histopathological, immunophenotypic, genetic and epigenetic features with those previously described in IMT, FET-CREB fusion-positive. Interestingly, the current case did not cluster with IMT, FET-CREB fusion-positive but rather presented histopathological (clear cell morphology with signs of malignancy), clinical (with a dismal course with several recurrences, metastases and finally the patient’s death), genetic (fusion implicating the CREM gene), and epigenetic (DNA-methylation profiling) similarities with our previously reported clear cell sarcoma-like tumor of the central nervous system. Our results added data suggesting that different clinical and histomolecular tumor subtypes or grades seem to be included within the terminology “IMT, FET-CREB fusion-positive”, and that further series of cases are needed to better characterize them.

scholarly journals High-grade astrocytoma with piloid features (HGAP): the Charité experience with a new central nervous system tumor entity

2021 ◽  
Author(s):  
Katja Bender ◽  
Eilís Perez ◽  
Mihaela Chirica ◽  
Julia Onken ◽  
Johannes Kahn ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Central Nervous System ◽  
Nervous System ◽  
World Health ◽  
Central Nervous System Tumor ◽  
High Grade ◽  
Thoracic Spinal Cord ◽  
High Grade Astrocytoma ◽  
Tumor Entity

Abstract Purpose High-grade astrocytoma with piloid features (HGAP) is a recently described brain tumor entity defined by a specific DNA methylation profile. HGAP has been proposed to be integrated in the upcoming World Health Organization classification of central nervous system tumors expected in 2021. In this series, we present the first single-center experience with this new entity. Methods During 2017 and 2020, six HGAP were identified. Clinical course, surgical procedure, histopathology, genome-wide DNA methylation analysis, imaging, and adjuvant therapy were collected. Results Tumors were localized in the brain stem (n = 1), cerebellar peduncle (n = 1), diencephalon (n = 1), mesencephalon (n = 1), cerebrum (n = 1) and the thoracic spinal cord (n = 2). The lesions typically presented as T1w hypo- to isointense and T2w hyperintense with inhomogeneous contrast enhancement on MRI. All patients underwent initial surgical intervention. Three patients received adjuvant radiochemotherapy, and one patient adjuvant radiotherapy alone. Four patients died of disease, with an overall survival of 1.8, 9.1, 14.8 and 18.1 months. One patient was alive at the time of last follow-up, 14.6 months after surgery, and one patient was lost to follow-up. Apart from one tumor, the lesions did not present with high grade histology, however patients showed poor clinical outcomes. Conclusions Here, we provide detailed clinical, neuroradiological, histological, and molecular pathological information which might aid in clinical decision making until larger case series are published. With the exception of one case, the tumors did not present with high-grade histology but patients still showed short intervals between diagnosis and tumor progression or death even after extensive multimodal therapy.

scholarly journals EWS-ATF-1 chimeric protein in soft tissue clear cell sarcoma associates with CREB-binding protein and interferes with p53-mediated trans-activation function

Oncogene ◽  
2001 ◽  
Vol 20 (46) ◽  
pp. 6653-6659 ◽  
Author(s):  
Yasuo Fujimura ◽  
Habibur Siddique ◽  
Leo Lee ◽  
Veena N Rao ◽  
E Shyam P Reddy
Keyword(s):  
Soft Tissue ◽  
Clear Cell ◽  
Binding Protein ◽  
Chimeric Protein ◽  
Clear Cell Sarcoma ◽  
Activation Function ◽  
Creb Binding Protein ◽  
Cell Sarcoma

scholarly journals The Therapeutic Approach of Soft – Tissue Sarcomas. A 12 Cases Analysis

2018 ◽  
Vol 1 (Supplement) ◽  
pp. 58
Author(s):  
V. Georgeanu ◽  
T. Atasiei ◽  
D. Gartonea ◽  
B. Shazam ◽  
G. Goleşteanu ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Local Recurrence ◽  
Synovial Sarcoma ◽  
Therapeutic Approach ◽  
Clear Cell ◽  
Postoperative Radiotherapy ◽  
Soft Tissue Sarcomas ◽  
Clear Cell Sarcoma ◽  
Cell Sarcoma ◽  
Special Cases

Abstract Introduction. Soft Tissue Sarcomas (STS) is a group of rare malignant tumors with mesenchymal tissue origin. At present, over 50 histopathological types with typical chromosome changes are described. Treatment is multidisciplinary, centered on the surgical approach. Method. Between 2014 and 2016, 12 STS cases were treated in our clinic: 3 liposarcomas, 2 synovial sarcomas, 1 angiosarcoma, 2 rhabdomyosarcomas, 2 myxofibrosarcomas, 1 fibroblast sarcoma and 1 clear cell sarcoma. With the exception of angiosarcoma that benefited only from chemotherapy, the other cases were surgically approached, followed by radiotherapy in 7 cases, and chemotherapy in one case. Results. Patient follow-up was for a minimum of 2 years. In 3 cases (fibroblast sarcoma, clear-cell sarcoma, synovial sarcoma), a local recurrence occurred between 3 and 9 months. In 2 cases (fibroblastic sarcoma, synovial sarcoma), pulmonary metastases occurred between 6 and 18 months and the patients died at 8 months and 2 years respectively. The rest of the cases were clinically and imagistically assessed (local MRI, lung CT) at 6 months for at least 2 years and showed no signs of local recurrence or metastasis. Conclusions. The evolution of STS depends on the histological type and to the stage of diagnosis (local extension, degree of differentiation and presence of metastases). Therapeutic approach should be centered on an accurate resection, within the limits of oncological safety even with re-resection. Postoperative radiotherapy is used in most of the cases, and chemotherapy is reserved for special cases with unfavorable local evolution or metastasis.

scholarly journals Pilomyxoid Astrocytoma Occurring in the Third Ventricle

2015 ◽  
Vol 5 ◽  
pp. 41
Author(s):  
Sanghyeon Kim ◽  
Myongjin Kang ◽  
Sunseob Choi ◽  
Dae Cheol Kim
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
World Health Organization ◽  
Third Ventricle ◽  
World Health ◽  
Central Nervous System Tumor ◽  
Pilomyxoid Astrocytoma ◽  
The Third ◽  
The Central Nervous System ◽  
Health Organization

Pilomyxoid astrocytoma (PMA) is a rare central nervous system tumor that has been included in the 2007 World Health Organization Classification of Tumors of the Central Nervous System. Due to its more aggressive behavior, PMA is classified as Grade II neoplasm by the World Health Organization. PMA predominantly affects the hypothalamic/chiasmatic region and occurs in children (mean age of occurrence = 10 months). We report a case of a 24-year-old man who presented with headache, nausea, and vomiting. Brain CT and MRI revealed a mass occupying only the third ventricle. We performed partial resection. Histological findings, including monophasic growth with a myxoid background, and absence of Rosenthal fibers or eosinophilic granular bodies, as well as the strong positivity for glial fibrillary acidic protein were consistent with PMA.

Lymphotropic Sarcomas (Epithelioid Sarcoma and Clear Cell Sarcoma)

2019 ◽  
Author(s):  
Alexandra G Lopez-Aguiar ◽  
Kenneth Cardona
Keyword(s):  
Lymph Node ◽  
Sentinel Lymph Node ◽  
Sentinel Lymph Node Biopsy ◽  
Soft Tissue ◽  
Clear Cell ◽  
Epithelioid Sarcoma ◽  
Clear Cell Sarcoma ◽  
Lymph Node Biopsy ◽  
Cell Sarcoma ◽  
Node Biopsy

Lymphotropic sarcomas encompass a rare subset of soft tissue sarcoma histotypes known for their distinct ability to metastasize to locoregional lymph nodes. Epithelioid and clear cell sarcomas are the predominant lymphotropic subtypes and the focus of this review. The utility of lymph node assessment, whether clinical, radiographic, and/or surgical, in patients with these sarcomas is presented. The role of sentinel lymph node biopsy as well as completion lymphadenectomy in patients with these lymphotropic sarcoma histotypes is discussed. Surgery remains the only potential curative option for these tumors, and advancement in histology-specific chemotherapeutic regimens and biologic therapy options is necessary.  This review contains 6 tables and 50 references. Key words: clear cell sarcoma, completion lymphadenectomy, epithelioid sarcoma, EWS-ATF1, limb-sparing surgery, lymph node metastasis, sentinel lymph node biopsy, soft tissue sarcoma

Tumors of the Central Nervous System

2013 ◽  
pp. 20-58
Author(s):  
Keith L. Ligon ◽  
Karima Mokhtari ◽  
Thomas W. Smith
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Molecular Biology ◽  
Tumor Type ◽  
Primary Tumors ◽  
System P ◽  
Precise Diagnosis ◽  
The Central Nervous System ◽  
Classification Of Tumors

This chapter presents the most up-to-date classification of tumors of the nervous system, based on the histological appearance of the neoplasm and also on information derived from cytogenetics and molecular biology, now recognized worldwide as increasingly important for more precise diagnosis, prognosis, and therapeutic guidance. The chapter provides a detailed morphologic description of each major tumor type, with numerous illustrations of macroscopic and microscopic lesions. First we consider primary tumors of the nervous system, including those derived from neuroepithelial tissue (astrocytic, oligodendroglial, ependymal, neuronal, and glioneuronal), pineal tissue, peripheral nerve sheath, and meninges. Next lymphomas, hematopoietic neoplasms, and secondary (metastatic) neoplasms are described.

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