1. ETV4 immunohistostaining is a sensitive and specific diagnostic biomarker for CIC‐rearranged sarcoma of the central nervous system.
- Author
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Ouvrard, Chloé, Métais, Alice, Brigot, Enola, Berthaud, Charlotte, Pucelle, Noémie, Lacombe, Joëlle, Hasty, Lauren, Chrétien, Fabrice, Bielle, Franck, Mokhtari, Karima, Cazals‐Hatem, Dominique, Lhermitte, Benoît, Uro‐Coste, Emmanuelle, Varlet, Pascale, and Tauziède‐Espariat, Arnault
- Subjects
CENTRAL nervous system ,TRANSCRIPTION factors ,FOLLICULAR dendritic cells ,SARCOMA - Abstract
The I CIC- i rearranged sarcoma was introduced into the 2021 World Health Organization (WHO) Classification of Tumours of the Central Nervous System (CNS), by homology of its soft-tissue counterpart.1 In the CNS, I CIC i fusions mainly implicate I DUX4 i or I NUTM1 i genes but non- I CIC i fusions (such as I ATXN1::DUX4 i and I ATXN1::NUTM1 i ) have been recently described.1-3 However, DNA-methylation profiling of all I CIC- i and non- I CIC- i fused CNS mesenchymal tumours showed that all cases clustered together.2 In soft tissue, it has been evidenced that whatever the fusion partner, the I CIC i translocation induces an oncogenic activation of the PEA3 family transcription factors, including ETV4.1 Consequently, ETV4 immunohistochemistry (IHC) may represent a specific biomarker for all I CIC- i rearranged sarcomas, whereas NUT immunoexpression is only observed in I CIC::NUTM1 i -fused sarcomas.1 In the CNS, the diagnosis of I CIC- i rearranged sarcoma may be challenging for neuropathologists, and a common diagnostic biomarker of all fusions may help to identify this rare tumour type. Our work is the first to evaluate the sensitivity and specificity of ETV4 in a large cohort of molecularly defined CNS tumours. ETV4 immunohistostaining is a sensitive and specific diagnostic biomarker for CIC-rearranged sarcoma of the central nervous system. [Extracted from the article]
- Published
- 2022
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