Fleur Cordier, Sharareh Fadaei, Liesbeth Ferdinande, Frederick Dochy, Lieve Vanwalleghem, Karolien Van Den Bossche, Siebe Loontiens, Joni Van der Meulen, Nadine Van Roy, Jo Van Dorpe, David Creytens
{"title":"揭示新兴实体中的 RB1 缺失：两例 PRRX1 重组间充质肿瘤的报告。","authors":"Fleur Cordier, Sharareh Fadaei, Liesbeth Ferdinande, Frederick Dochy, Lieve Vanwalleghem, Karolien Van Den Bossche, Siebe Loontiens, Joni Van der Meulen, Nadine Van Roy, Jo Van Dorpe, David Creytens","doi":"10.1136/jcp-2023-209267","DOIUrl":null,"url":null,"abstract":"<p><strong>Aims: </strong><i>PRRX1</i>-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.</p><p><strong>Methods: </strong>Two new molecular confirmed cases of <i>PRRX1</i>-rearranged mesenchymal tumours were thoroughly studied with immunohistochemical stainings (RB1, CD34, ALK and pan-TRK), fluorescence in situ hybridisation (FISH) <i>RB1/13q12</i> and RNA-based next-generation sequencing.</p><p><strong>Results: </strong>Both cases exhibited typical morphological and molecular features, confirming the diagnosis of <i>PRRX1</i>-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.</p><p><strong>Conclusions: </strong>We identified loss of <i>RB1</i> in two cases of PRRX1-rearranged mesenchymal tumours. This could suggest a potential association with <i>RB1</i>-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.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"154-160"},"PeriodicalIF":2.5000,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Revealing <i>RB1</i> loss in an emerging entity: report of two cases of PRRX1-rearranged mesenchymal tumours.\",\"authors\":\"Fleur Cordier, Sharareh Fadaei, Liesbeth Ferdinande, Frederick Dochy, Lieve Vanwalleghem, Karolien Van Den Bossche, Siebe Loontiens, Joni Van der Meulen, Nadine Van Roy, Jo Van Dorpe, David Creytens\",\"doi\":\"10.1136/jcp-2023-209267\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Aims: </strong><i>PRRX1</i>-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.</p><p><strong>Methods: </strong>Two new molecular confirmed cases of <i>PRRX1</i>-rearranged mesenchymal tumours were thoroughly studied with immunohistochemical stainings (RB1, CD34, ALK and pan-TRK), fluorescence in situ hybridisation (FISH) <i>RB1/13q12</i> and RNA-based next-generation sequencing.</p><p><strong>Results: </strong>Both cases exhibited typical morphological and molecular features, confirming the diagnosis of <i>PRRX1</i>-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.</p><p><strong>Conclusions: </strong>We identified loss of <i>RB1</i> in two cases of PRRX1-rearranged mesenchymal tumours. This could suggest a potential association with <i>RB1</i>-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.</p>\",\"PeriodicalId\":15391,\"journal\":{\"name\":\"Journal of Clinical Pathology\",\"volume\":\" \",\"pages\":\"154-160\"},\"PeriodicalIF\":2.5000,\"publicationDate\":\"2025-02-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Clinical Pathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1136/jcp-2023-209267\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Clinical Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1136/jcp-2023-209267","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PATHOLOGY","Score":null,"Total":0}
Revealing RB1 loss in an emerging entity: report of two cases of PRRX1-rearranged mesenchymal tumours.
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.
期刊介绍：
Journal of Clinical Pathology is a leading international journal covering all aspects of pathology. Diagnostic and research areas covered include histopathology, virology, haematology, microbiology, cytopathology, chemical pathology, molecular pathology, forensic pathology, dermatopathology, neuropathology and immunopathology. Each issue contains Reviews, Original articles, Short reports, Correspondence and more.
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