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 Ya Lu 1 & Xin He 1 & Yan Qiu 1 & Huijiao Chen 1 & Hua Zhuang 2 & Jin Yao 3 & Hongying Zhang 1 Received: 18 November 2019 / Revised: 29 February 2020 / Accepted: 4 March 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
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. Keywords Intravascular fasciitis . Nodular fasciitis . USP6-induced neoplasm . USP6 rearrangement . CTNNB1-USP6 . Next-generation sequencing
Introduction Nodular fasciitis (NF) is one of the most important pseudosarcomatous lesions. Histologically, NF is composed of plump, tissue-culture-like fibroblasts and myofibroblasts that are arranged in short, irregular bundles and fascicles. In 2011, Erickson-Johnson et al. demonstrated that this lesion has a high frequency (> 90%) of ubiquitin-specific protease 6 (USP6) rearrangement on chromosome 17p13, and most of those cases (65%) harbored a MYH9-USP6 fusion [1]. Therefore, it has been widely accepted that NF should be considered a transient neoplasm rather than a reactive lesion.
Intravascular fasciitis (IVF) has been considered a rare variant of NF with vessel involvement. Since its first description in 1981 [2], to the best of our knowledge, approximately 43 cases have been reported in the English literature [2–5]. Notably, no molecular data on IVF have been published yet. Here, we reported an extremely peculiar case of IVF arising in the common iliac vein harboring a novel CTNNB1-USP6 fusion. To the best of our knowledge, the current case is the first published example of IVF occurring in a deep large vein.
Case report Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00428-020-02792-x) contains supplementary material, which is available to authorized users. * Hongying Zhang [email protected] 1
Department of Pathology, West China Hospital, Sichuan University, Guoxuexiang 37, Chengdu 610041, Sichuan, China
2
Department of Ultrasound, West China Hospital, Sichuan University, Chengdu
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