Revealing RB1 loss in an emerging entity: report of two cases of PRRX1-rearranged mesenchymal tumours.

IF 2.5 4区医学 Q2 PATHOLOGY Journal of Clinical Pathology Pub Date : 2025-02-18 DOI:10.1136/jcp-2023-209267

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

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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.

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揭示新兴实体中的 RB1 缺失：两例 PRRX1 重组间充质肿瘤的报告。

目的：PRRX1重排间质瘤是最近发现的一种罕见的软组织肿瘤亚群，具有独特的形态特征和基因改变。本研究旨在进一步研究这些肿瘤的免疫组化特征和潜在的基因改变，以深入了解其潜在的生物学特性和这些肿瘤的独特特征：方法：通过免疫组化染色（RB1、CD34、ALK和pan-TRK）、荧光原位杂交（FISH）RB1/13q12和基于RNA的新一代测序，对两例新的PRRX1重排间质瘤分子确诊病例进行了深入研究：结果：两个病例均表现出典型的形态学和分子特征，确诊为 PRRX1 重组间质瘤。免疫组化显示两例病例均有RB1缺失，随后通过FISH分析证实了这一点。此外，一个病例的免疫组化显示 CD34、ALK 和 pan-TRK 局灶阳性：结论：我们在两例 PRRX1 重组间质瘤中发现了 RB1 缺失。结论：我们在两例 PRRX1 重组间充质肿瘤中发现了 RB1 缺失，这可能与 RB1 缺失的软组织肿瘤有关，但仍需进一步研究。此外，免疫组化中CD34、ALK和pan-TRK的局灶阳性发现丰富了这些肿瘤的免疫组化特征。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Clinical Pathology 医学-病理学

CiteScore

7.80

自引率

2.90%

发文量

113

审稿时长

3-8 weeks

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.