Intraarticular nodular fasciitis of the knee with MHY9-USP6 fusion

Igrec, Jasminka; Brčić, Iva; Janisch, Michael; Igrec, R; Kashofer, Karl; Fuchsjäger, Michael; Liegl‐Atzwanger, Bernadette

doi:10.1055/s-0040-1703459

Cited by 2 publications

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“…4 In one study, most cases of NF (over 90%) had USP6 gene fusions, and in over half of those cases the USP6 fusion partner was MYH9 . 5 Rare cases of NF (proven to harbor USP6 fusions) have been described in joints 4,6 ; therefore, it has been proposed that CFTS might represent a tenosynovial variant of NF. However, thus far, in contrast to classic cases of NF, it would seem that the majority (but not all) of CFTSs have non - MYH9 USP6 fusions, so while there is clearly significant histologic and molecular overlap between these lesions, CFTS are perhaps more diverse than NF on a molecular level given a broader spectrum of non- USP6 fusion partners.…”

Section: Discussionmentioning

confidence: 95%

“…3 NF is a self-limiting benign fibroblastic/myofibroblastic neoplasm. 4 In one study, most cases of NF (over 90%) had USP6 gene fusions, and in over half of those cases the USP6 fusion partner was MYH9. 5 Rare cases of NF (proven to harbor USP6 fusions) have been described in joints 4,6 ; therefore, it has been proposed that CFTS might represent a tenosynovial variant of NF.…”

Section: Discussionmentioning

confidence: 95%

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Cellular Fibroma of Tendon Sheath With Novel TNC-USP6 Gene Fusion Clinically Mimicking Arthritis in a 7-Year-Old Boy

et al. 2021

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Cellular fibroma of tendon sheath (CFTS) is a rare, benign myofibroblastic neoplasm of tenosynovial soft tissues closely resembling nodular fasciitis (NF), but is histomorphologically distinct from classic fibroma of tendon sheath (FTS). We report a case of a pediatric patient with thumb swelling clinically concerning for arthritis with a biopsy demonstrating myofibroblastic proliferation with features consistent with NF/CFTS, and molecular studies confirming the presence of a USP6 gene fusion (TNC-USP6). This case highlights a unique clinical presentation of CFTS in a pediatric patient mimicking an inflammatory or reactive/non-neoplastic musculoskeletal disorder and the increasingly crucial role of molecular testing to differentiate a reactive myofibroblastic process from a neoplasm. Moreover, this report identifies TNC as a new fusion partner to USP6 fusion partner adding to our growing understanding of the USP6-rearranged family of tumors.

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