RevealingRB1loss in an emerging entity: report of two cases of PRRX1-rearranged mesenchymal tumours

• DOI: 10.1136/jcp-2023-209267
• Publication Date: 2023-12-28T18:25:20Z
• Authors: Fleur Cordier; Sharareh Fadaei; Liesbeth Ferdinande; Frederick Dochy; Lieve Vanwalleghem; Karolien Van Den ...; Siebe Loontiens; Joni Van der Meulen; Nadine Van Roy; Jo Van Dorpe; David Creytens
• Keywords: Medicine and Health Sciences; Pathology; Biology and Life Sciences; Molecular; Soft Tissue Neoplasms; General Medicine; IMMUNOHISTOCHEMISTRY; Pathology and Forensic Medicine

AimsPRRX1-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.MethodsTwo new molecular confirmed cases ofPRRX1-rearranged mesenchymal tumours were thoroughly studied with immunohistochemical stainings (RB1, CD34, ALK and pan-TRK), fluorescence in situ hybridisation (FISH)RB1/13q12and RNA-based next-generation sequencing.ResultsBoth cases exhibited typical morphological and molecular features, confirming the diagnosis ofPRRX1-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.ConclusionsWe identified loss ofRB1in two cases of PRRX1-rearranged mesenchymal tumours. This could suggest a potential association withRB1-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.