@article{01HJT5VSR2WX6W574ARGDATDH6,
  abstract     = {{Aims PRRX1-rearranged mesenchymal tumours are a recently identified and rare subgroup of soft tissue neoplasms with distinct morphological features and genetic alterations. This study aims to further investigate the immunohistochemical profile and underlying genetic alterations in these tumours in order to get more insight on their underlying biology and the unique profile of these tumours.

Methods Two new molecular confirmed cases of PRRX1-rearranged mesenchymal tumours were thoroughly studied with immunohistochemical stainings (RB1, CD34, ALK and pan-TRK), fluorescence in situ hybridisation (FISH) RB1/13q12 and RNA-based next-generation sequencing.

Results Both cases exhibited typical morphological and molecular features, confirming the diagnosis of PRRX1-rearranged mesenchymal tumours. Immunohistochemistry revealed RB1 loss in both cases, which was subsequently confirmed through FISH analysis. Additionally, one case showed focal positivity for CD34, ALK and pan-TRK on immunohistochemistry.

Conclusions We identified loss of RB1 in two cases of PRRX1-rearranged mesenchymal tumours. This could suggest a potential association with RB1-deficient soft tissue tumours, although further research is necessary. Furthermore, the finding of focal positivity for CD34, ALK and pan-TRK on immunohistochemistry enriches the immunohistochemical profile of these tumours.}},
  author       = {{Cordier, Fleur and Fadaei, Sharareh and Ferdinande, Liesbeth and Dochy, Frederick and Vanwalleghem, Lieve and Van Den Bossche, Karolien and Loontiens, Siebe and Van der Meulen, Joni and Van Roy, Nadine and Van Dorpe, Jo and Creytens, David}},
  issn         = {{0021-9746}},
  journal      = {{JOURNAL OF CLINICAL PATHOLOGY}},
  keywords     = {{General Medicine,Pathology and Forensic Medicine,IMMUNOHISTOCHEMISTRY,Molecular,Pathology,Soft Tissue Neoplasms}},
  language     = {{eng}},
  number       = {{3}},
  pages        = {{154--160}},
  title        = {{Revealing RB1 loss in an emerging entity : report of two cases of PRRX1-rearranged mesenchymal tumours}},
  url          = {{http://doi.org/10.1136/jcp-2023-209267}},
  volume       = {{78}},
  year         = {{2025}},
}

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