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Case Reports
. 2021 Oct;479(4):841-846.
doi: 10.1007/s00428-021-03027-3. Epub 2021 Jan 18.

Clear cell tumor with melanocytic differentiation and MITF-CREM translocation: a novel entity similar to clear cell sarcoma

Arnaud de la Fouchardiere  1 , Daniel Pissaloux  2 , Franck Tirode  2 , John Hanna  3
Affiliations
Case Reports

Clear cell tumor with melanocytic differentiation and MITF-CREM translocation: a novel entity similar to clear cell sarcoma

Arnaud de la Fouchardiere et al. Virchows Arch. 2021 Oct.

Abstract

The presence of melanocytic differentiation in tumors of non-melanocyte origin is uncommon and is typically associated with the overexpression of MITF, the master regulator of melanin synthesis, or another member of the MIT/TFE3 family. In clear cell sarcoma, the presence of either an EWSR1-ATF1 or EWSR1-CREB1 translocation-derived fusion protein is thought to drive melanocytic differentiation by directly stimulating the expression of MITF. Here, we describe a clear cell neoplasm with melanocytic differentiation that is characterized by a novel MITF-CREM gene fusion. CREM is the third member of the ATF1/CREB1/CREM family, and the nature of the MITF-CREM fusion appears analogous to the EWSR1-ATF1 and EWSR1-CREB1 fusions. Thus, this MITF-CREM-rearranged clear cell tumor represents a novel entity with morphologic, immunohistochemical, and molecular similarity to clear cell sarcoma.

Keywords: CREM; Clear cell sarcoma; MITF; Melanocytic; Translocation.

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References

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