Novel CTNNB1-USP6 fusion in intravascular fasciitis of the large vein identified by next-generation sequencing.

Novel CTNNB1-USP6 fusion in intravascular fasciitis of the large vein identified by next-generation sequencing.:

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Novel CTNNB1-USP6 fusion in intravascular fasciitis of the large vein identified by next-generation sequencing.

Virchows Arch. 2020 Sep;477(3):455-459

Authors: Lu Y, He X, Qiu Y, Chen H, Zhuang H, Yao J, Zhang H

Abstract

Intravascular fasciitis (IVF) is considered a rare variant of nodular fasciitis, which often involves small- and medium-sized blood vessels. Approximately 43 cases of IVF have been reported in the English literature to date. Here, we report an IVF case arising from the common iliac vein of the pelvic cavity in a 19-year-old Chinese man. Histologically, the lesion was confined within the vascular lumen and consisted of regular myofibroblasts immersed in a fibromyxoid stroma. The tumor cells showed a USP6 rearrangement by fluorescence in situ hybridization but were negative for MYH9-USP6 fusion by reverse transcription polymerase chain reaction. Subsequent next-generation sequencing identified the CTNNB1-USP6 fusion. To the best of our knowledge, the vessel involved in this case is the largest vein among the reported cases. The present case might be the first example of a USP6-rearranged lesion in this entity, suggesting that IVF should be included in the USP6-induced family.



PMID: 32170450 [PubMed - indexed for MEDLINE]