The New Molecularly Defined CNS Sarcomas: FET::CREB Fusion-Positive Intracranial Mesenchymal Tumour, CIC-Rearranged Sarcoma, and DICER1-Mutant Primary Intracranial Sarcoma

The 2021 World Health Organization (WHO) Classification of Tumours of the Central Nervous System introduced three molecularly defined mesenchymal entities: intracranial mesenchymal tumour, FET::CREB fusion-positive (ICMT), defined by fusion of a FET RNA-binding protein gene (EWSR1 or FUS) to a cAMP-response element-binding protein (CREB) family gene; CIC-rearranged sarcoma, defined by fusion of the capicua transcriptional repressor gene (CIC); and primary intracranial sarcoma, DICER1-mutant, defined by mutation of the microRNA-processing gene DICER1. Each is genetically defined yet morphologically non-specific, and each mimics a commoner neoplasm: meningioma, Ewing or embryonal tumour, and high-grade glioma, respectively. This review reads all three through a single mechanistic lens, tracing each defining lesion to its diagnostic phenotype. We compare the available diagnostic modalities and propose a tiered testing algorithm, offered as an expert synthesis rather than a validated pathway. DNA methylation profiling recognises CIC-rearranged and DICER1-mutant sarcoma as distinct classes but has no dedicated class for ICMT, which it may misassign to meningioma, making fusion testing indispensable. Alone among the three, DICER1-mutant sarcoma may arise on a germline background, so its diagnosis should prompt genetic counselling and an offer of germline testing. Molecular characterisation has largely resolved diagnostic ambiguity without yet delivering therapy: candidate targets remain preclinical or anecdotal, and management rests on resection and borrowed adjuvant regimens.

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Publication Details

Journal
Applied Sciences
Published
2026-10-28
DOI
https://doi.org/10.3390/app162110648
Primary Topic
Sarcoma Diagnosis and Treatment
Type
article
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article

The New Molecularly Defined CNS Sarcomas: FET::CREB Fusion-Positive Intracranial Mesenchymal Tumour, CIC-Rearranged Sarcoma, and DICER1-Mutant Primary Intracranial Sarcoma

Dimitrios N. Kanakis, Yahya Wehbeh, Omar Itani, Julia Sophie Stenz
2 links
Applied Sciences
Sarcoma Diagnosis and Treatment
article

The New Molecularly Defined CNS Sarcomas: FET::CREB Fusion-Positive Intracranial Mesenchymal Tumour, CIC-Rearranged Sarcoma, and DICER1-Mutant Primary Intracranial Sarcoma

Dimitrios N. Kanakis, Yahya Wehbeh, Omar Itani, Julia Sophie Stenz
article en

Abstract

The 2021 World Health Organization (WHO) Classification of Tumours of the Central Nervous System introduced three molecularly defined mesenchymal entities: intracranial mesenchymal tumour, FET::CREB fusion-positive (ICMT), defined by fusion of a FET RNA-binding protein gene (EWSR1 or FUS) to a cAMP-response element-binding protein (CREB) family gene; CIC-rearranged sarcoma, defined by fusion of the capicua transcriptional repressor gene (CIC); and primary intracranial sarcoma, DICER1-mutant, defined by mutation of the microRNA-processing gene DICER1. Each is genetically defined yet morphologically non-specific, and each mimics a commoner neoplasm: meningioma, Ewing or embryonal tumour, and high-grade glioma, respectively. This review reads all three through a single mechanistic lens, tracing each defining lesion to its diagnostic phenotype. We compare the available diagnostic modalities and propose a tiered testing algorithm, offered as an expert synthesis rather than a validated pathway. DNA methylation profiling recognises CIC-rearranged and DICER1-mutant sarcoma as distinct classes but has no dedicated class for ICMT, which it may misassign to meningioma, making fusion testing indispensable. Alone among the three, DICER1-mutant sarcoma may arise on a germline background, so its diagnosis should prompt genetic counselling and an offer of germline testing. Molecular characterisation has largely resolved diagnostic ambiguity without yet delivering therapy: candidate targets remain preclinical or anecdotal, and management rests on resection and borrowed adjuvant regimens.

Applied SciencesVol. 16(21)
University of Nicosia (CY)
Good health and well-being
Openalex Percentile: Top 12%
Sarcoma Diagnosis and Treatment
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