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@ARTICLE{Rizwan:306525,
      author       = {R. Rizwan and V. Venkataramani and L. Haug and T. Hattery
                      and M. Chen and J. Nakitandwe and S. Shurtleff and E. M.
                      Azzato and M.-V. Teleanu$^*$ and J. Hüllein$^*$ and S.
                      Fröhling$^*$ and R. Stoehr and S. D. Billings and M. Michal
                      and K. J. Fritchie and A. Agaimy and J. K. Dermawan},
      title        = {{ZFTA}::{NCOA}1/2-rearranged {E}pithelioid {M}esenchymal
                      {T}umor-{A} {P}henotypically {D}istinct {M}yoepithelial-like
                      {N}eoplasm {E}pigenetically {O}verlapping with {C}hondroid
                      {L}ipoma.},
      journal      = {Modern pathology},
      volume       = {39},
      number       = {1},
      issn         = {0893-3952},
      address      = {London},
      publisher    = {Nature Publishing Group},
      reportid     = {DKFZ-2025-02590},
      pages        = {100939},
      year         = {2026},
      note         = {Volume 39, Issue 1, January 2026, 100939},
      abstract     = {ZFTA (formerly C11orf95) gene rearrangements are recurrent
                      in rare tumors of the central nervous system, such as
                      ependymomas (mostly ZFTA::RELA), and soft tissue tumors such
                      as chondroid lipomas (ZFTA::MRTFB). To date, among
                      mesenchymal tumors, the fusion ZFTA::NCOA1 has only been
                      reported in a single case of chondroid lipoma. We describe
                      five distinct soft tissue tumors harboring ZFTA::NCOA1/2
                      fusions. The tumors arose from 2 female and 3 males with a
                      median age of 31 years (range 30-72 years). All tumors were
                      well-circumscribed involving the deep (4 cases) or
                      superficial (1 case) soft tissue of the proximal limbs with
                      a median greatest dimension of 4.2 cm (range 1.7-6.0 cm).
                      Histologically, they displayed lobulated architecture and
                      were composed of monotonous epithelioid to plasmacytoid
                      cells arranged in cords, chains and nests within myxohyaline
                      or sclerosed stroma. Focal loose myxoid reticulate areas and
                      prominent dilated and hyalinized blood vessels were present.
                      One tumor showed focal spindle cells, while another
                      demonstrated necrosis and atypical mitotic figures.
                      Definitive adipocytic, lipoblastic, or clear-cell features
                      were absent except in one case. Immunohistochemistry was
                      nonspecific without any consistent lineage-defining marker
                      expression. Targeted RNA sequencing confirmed ZFTA::NCOA1
                      fusions in 3 and ZFTA::NCOA2 fusion in 2 cases. DNA
                      methylation profiling, available in 4 cases, demonstrated a
                      shared epigenetic profile with chondroid lipoma but not
                      other tumors with histologic or genetic overlap. Copy number
                      variation analysis showed a flat copy number profile in 3
                      cases and chr9p arm-level copy number loss in the case with
                      necrosis and mitotic activity. All patients underwent
                      complete excision; no recurrences or metastases were
                      observed over a limited follow-up period (available in 4
                      cases, range 8-24 months, median 10.5 months). In
                      conclusion, ZFTA::NCOA1/2-rearranged epithelioid mesenchymal
                      tumors represent a novel, morphologically distinct entity,
                      genetically and epigenetically overlapping with chondroid
                      lipoma. Expanded cohorts and long-term follow-up are
                      necessary to clarify their precise classification and
                      biologic behavior.},
      keywords     = {NCOA1 (Other) / NCOA2 (Other) / ZFTA (Other) / methylation
                      profiling (Other)},
      cin          = {B340},
      ddc          = {610},
      cid          = {I:(DE-He78)B340-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:41270902},
      doi          = {10.1016/j.modpat.2025.100939},
      url          = {https://inrepo02.dkfz.de/record/306525},
}