Atypical spindle cell/pleomorphic lipomatous tumour: a clinicopathologic, immunohistochemical and molecular study of 55 cases, highlighting TP53 gene alterations as a genetic hallmark of atypical pleomorphic lipomatous tumour.

IF 3.9 2区医学 Q2 CELL BIOLOGY

Histopathology Pub Date : 2025-05-23 DOI:10.1111/his.15474

Fleur Cordier, Tony G Kleijn, Thomas Mentzel, Uta Flucke, Joost van Gorp, Liesbeth Ferdinande, Sarah Van Belle, Siebe Loontiens, Joni Van der Meulen, Jo Van Dorpe, Arjen H G Cleven, David Creytens

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引用次数: 0

Abstract

Aims: Atypical spindle cell lipomatous tumour (ASLT) and atypical pleomorphic lipomatous tumour (APLT) have been grouped together under the umbrella designation atypical spindle cell/pleomorphic lipomatous tumour (ASPLT) in the 2020 edition of the World Health Organization (WHO) Classification of Soft Tissue and Bone Tumours. They are thought to exist on a morphologic spectrum and share similar clinicopathologic and biological characteristics. The aim of this study was to further explore the genetic background of ASLTs and APLTs by employing DNA-based next-generation sequencing and immunohistochemistry, with a specific focus on the TP53 gene.

Methods and results: Using DNA-based NGS and immunohistochemistry, TP53 alterations were identified in 20 out of 21 APLT cases (95%). This is in contrast to the ASLT cases, in which no TP53 alterations could be observed. Among APLT cases with an abnormal p53 immunohistochemical profile and successful DNA NGS testing, 92% (12 of 13 cases) harboured a TP53 alteration.

Conclusions: APLTs predominantly harbour a TP53 alteration in contrast to ASLT cases. Our findings support the classification of APLT as a distinct (sub)entity within a spectrum that overlaps with ASLT, and it remains to be determined whether the broader term 'ASPLT' will hold up. Furthermore, p53 immunostaining proved to be a potentially valuable diagnostic tool, aiding pathologists in differentiating between ASLT and APLT.

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非典型梭形细胞/多形性脂肪瘤：55例临床病理、免疫组织化学和分子研究，强调TP53基因改变是非典型多形性脂肪瘤的遗传标志。

目的：在2020年版世界卫生组织（WHO）软组织和骨肿瘤分类中，非典型梭形细胞脂肪瘤（ASLT）和非典型多形性脂肪瘤（APLT）被归类为非典型梭形细胞/多形性脂肪瘤（ASPLT）。它们被认为存在于一个形态谱上，并具有相似的临床病理和生物学特征。本研究的目的是通过基于dna的新一代测序和免疫组织化学技术进一步探索aslt和APLTs的遗传背景，并特别关注TP53基因。方法和结果：采用基于dna的NGS和免疫组织化学技术，21例APLT患者中有20例（95%）发现TP53改变。这与ASLT病例相反，ASLT病例中没有观察到TP53改变。在p53免疫组化谱异常且DNA NGS检测成功的APLT病例中，92%（13例中的12例）存在TP53改变。结论：与ASLT病例相比，aplt主要存在TP53改变。我们的研究结果支持将APLT分类为与ASLT重叠的光谱中的一个独特（子）实体，并且还有待确定更广泛的术语“ASPLT”是否会成立。此外，p53免疫染色被证明是一个潜在的有价值的诊断工具，帮助病理学家区分ASLT和APLT。

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

Histopathology 医学-病理学

CiteScore

10.20

自引率

4.70%

发文量

239

审稿时长

1 months

期刊介绍： Histopathology is an international journal intended to be of practical value to surgical and diagnostic histopathologists, and to investigators of human disease who employ histopathological methods. Our primary purpose is to publish advances in pathology, in particular those applicable to clinical practice and contributing to the better understanding of human disease.