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A novel SMARCA2-CREM fusion: expanding the molecular spectrum of intracranial mesenchymal tumors beyond the FET genes
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A novel SMARCA2-CREM fusion: expanding the molecular spectrum of intracranial mesenchymal tumors beyond the FET genes
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Journal Article
A novel SMARCA2-CREM fusion: expanding the molecular spectrum of intracranial mesenchymal tumors beyond the FET genes
2021
Overview
A 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.
Publisher
BioMed Central,BioMed Central Ltd,Nature Publishing Group,BMC
Subject
/ Biomedical and Life Sciences
/ CREM
/ Cyclic AMP Response Element Modulator - genetics
/ Genes
/ Humans
/ Intracranial mesenchymal tumor
/ Male
/ Meningeal Neoplasms - pathology
/ Neoplasms, Second Primary - genetics
/ Neoplasms, Second Primary - pathology
/ Oncogene Proteins, Fusion - genetics
/ Proteins
/ Sarcoma
/ SMARCA2
/ Transcription Factors - genetics
/ Tumors
