Ossifying fibromyxoid tumours with lipomatous and cartilaginous differentiation: A diagnostic pitfall.

IF 3.9 2区医学 Q2 CELL BIOLOGY

Histopathology Pub Date : 2024-12-20 DOI:10.1111/his.15396

Natálie Klubíčková, Steven Billings, Josephine K T Dermawan, Jeremy F Molligan, Karen Fritchie

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引用次数: 0

Abstract

Aims: Ossifying fibromyxoid tumour is a rare mesenchymal neoplasm predominantly affecting adults characterised by a multinodular growth pattern and the presence of a fibrous pseudocapsule with areas of ossification. Prompted by the recognition of a non-ossifying ossifying fibromyxoid tumour with lipomatous differentiation which caused diagnostic difficulty, we sought to further explore cases of ossifying fibromyxoid tumour with non-osseous heterologous elements.

Methods and results: A search of our institutional and consultation archives revealed three additional cases that demonstrated lipomatous components and two cases with cartilaginous differentiation. RNA-sequencing revealed fusions involving PHF1 (n = 4) or EPC1 (n = 1) in all (five of five) cases tested, including EPC1::PHC1 and JAZF1::PHF1 fusions, which have not been reported before in ossifying fibromyxoid tumour.

Conclusion: These six cases expand the histomorphological spectrum of ossifying fibromyxoid tumour, introducing lipomatous differentiation as a hitherto undocumented feature. Awareness of these rare variants will ensure appropriate diagnosis and clinical management.

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骨化纤维黏液样肿瘤伴脂肪瘤和软骨分化：一个诊断缺陷。

目的：骨化性纤维黏液样肿瘤是一种罕见的间质肿瘤，主要影响成人，其特征是多结节生长模式和纤维假包膜的存在，并伴有骨化区。由于认识到非骨化性骨化性纤维黏液样肿瘤伴脂肪瘤分化，导致诊断困难，我们寻求进一步探讨骨化性纤维黏液样肿瘤伴非骨性异源元素的病例。方法和结果：对我们的机构和咨询档案进行了搜索，发现了另外3例脂肪瘤成分和2例软骨分化。rna测序显示，在所有（5例中的5例）检测的病例中，均有涉及PHF1 （n = 4）或EPC1 （n = 1）的融合，包括EPC1::PHC1和JAZF1::PHF1融合，这些融合在骨化纤维黏液样肿瘤中未见报道。结论：这6例扩大了骨化纤维黏液样瘤的组织形态学谱，引入了脂肪瘤分化作为一个迄今未记载的特征。了解这些罕见的变异将确保适当的诊断和临床管理。

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.