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<p>Definitive diagnosis of infantile fibrosarcoma (IFS) and related kinase-altered spindle cell neoplasms (SCN) requires immunohistochemistry (IHC) or molecular assays that are variable in performance or not widely available. Recent transcriptomic studies identified differential gene expression in IFS with <i>ETV6</i>::<i>NTRK3</i> fusions, prompting investigation of SOX11 expression pattern by IHC in IFS/IFS-like SCN and morphologic mimics. SOX11 staining (MRQ-58) was performed on 201 spindle cell tumors, including 28 IFS and congenital mesoblastic nephroma (CMN) with <i>ETV6</i>::<i>NTRK3</i> fusion, 44 IFS/IFS-like SCN with alternative kinase fusions, 15 inflammatory myofibroblastic tumor, 4 dermatofibrosarcoma protuberans, 6 myofibroma, and 104 mimics comprising 38 malignant peripheral nerve sheath tumor (MPNST), 24 synovial sarcoma, 19 desmoid fibromatosis, 7 neurofibroma, 4 schwannoma, 4 fibrous hamartoma of infancy, 4 spindle cell/sclerosing rhabdomyosarcoma (SRMS), and 4 clear cell sarcoma of kidney (CCSK). SOX11 was positive in 18/28 (64%) <i>ETV6</i>::<i>NTRK3</i>-rearranged IFS/CMN (21% with diffuse strong nuclear expression and 43% with multifocal moderate to strong positivity) and 3/69 (4%) other kinase-altered tumors, including one <i>EGFR</i>-altered tumor and two cellular myofibromas. SOX11 was positive in 5/24 (21%) synovial sarcoma, 6/38 (16%) MPNST, 2/4 (50%) SRMS, and all 4 CCSK. Overall, SOX11 was 64% sensitive for <i>ETV6</i>::<i>NTRK3</i>-fused IFS/CMN and 96% specific compared to kinase-altered tumors, with 88% specificity compared to all mimics. SOX11 is moderately sensitive but highly specific for IFS/CMN with <i>ETV6</i>::<i>NTRK3</i> fusion. In the correct context, SOX11 shows utility as a screening adjunct for focused molecular testing.</p>

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SOX11 is frequently expressed in ETV6::NTRK3-rearranged infantile fibrosarcoma and congenital mesoblastic nephroma

  • 期刊论文

  • 发表日期：

    2025年11月1日

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  • Faizan Malik,
  • Katelyn S. Provine,
  • Selene C. Koo,
  • Teresa Santiago,
  • Christina A. Tucker,
  • Valentino Costabile,
  • Sabina Barresi,
  • Emma Rullo,
  • Rita Alaggio

摘要

Definitive diagnosis of infantile fibrosarcoma (IFS) and related kinase-altered spindle cell neoplasms (SCN) requires immunohistochemistry (IHC) or molecular assays that are variable in performance or not widely available. Recent transcriptomic studies identified differential gene expression in IFS with ETV6::NTRK3 fusions, prompting investigation of SOX11 expression pattern by IHC in IFS/IFS-like SCN and morphologic mimics. SOX11 staining (MRQ-58) was performed on 201 spindle cell tumors, including 28 IFS and congenital mesoblastic nephroma (CMN) with ETV6::NTRK3 fusion, 44 IFS/IFS-like SCN with alternative kinase fusions, 15 inflammatory myofibroblastic tumor, 4 dermatofibrosarcoma protuberans, 6 myofibroma, and 104 mimics comprising 38 malignant peripheral nerve sheath tumor (MPNST), 24 synovial sarcoma, 19 desmoid fibromatosis, 7 neurofibroma, 4 schwannoma, 4 fibrous hamartoma of infancy, 4 spindle cell/sclerosing rhabdomyosarcoma (SRMS), and 4 clear cell sarcoma of kidney (CCSK). SOX11 was positive in 18/28 (64%) ETV6::NTRK3-rearranged IFS/CMN (21% with diffuse strong nuclear expression and 43% with multifocal moderate to strong positivity) and 3/69 (4%) other kinase-altered tumors, including one EGFR-altered tumor and two cellular myofibromas. SOX11 was positive in 5/24 (21%) synovial sarcoma, 6/38 (16%) MPNST, 2/4 (50%) SRMS, and all 4 CCSK. Overall, SOX11 was 64% sensitive for ETV6::NTRK3-fused IFS/CMN and 96% specific compared to kinase-altered tumors, with 88% specificity compared to all mimics. SOX11 is moderately sensitive but highly specific for IFS/CMN with ETV6::NTRK3 fusion. In the correct context, SOX11 shows utility as a screening adjunct for focused molecular testing.