Ossifying fibromyxoid tumours: A case series

IF 7.6 1区 医学 Q1 ONCOLOGY European Journal of Cancer Pub Date : 2025-01-09 DOI:10.1016/j.ejca.2025.115229
Javier Pozas , Khin Thway , Daniel Lindsay , Cyril Fisher , Myles Smith , Andrew Hayes , Aisha Miah , Shane Zaidi , Charlotte Benson , Andrea Napolitano , Paul Huang , Robin L. Jones
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Abstract

Background

Ossifying fibromyxoid tumour is a rare mesenchymal soft tissue sarcoma with uncertain differentiation and variable metastatic potential.

Patients and methods

This study offers a retrospective analysis of 23 patients diagnosed with OFMT between 1993 and 2024.

Results

The tumours most commonly arose in the extremities and trunk, with all patients undergoing surgical resection of the primary tumour. Immunohistochemical analysis frequently revealed the expression of S100 protein and desmin, while next-generation sequencing identified PHF1 rearrangements in 83 % of patients with available NGS, notably PHF1::EP400 and PHF1::TFE3 fusions. Five patients experienced local recurrence, and four developed metastatic disease. There is no prospective data to guide decision making with regards to systemic therapy, and doxorubicin-based regimens demonstrate limited efficacy. However, the potential role of epigenetic dysregulation in OFMT tumorigenesis opens exciting avenues for treatment. In this cohort, one patient exhibited a remarkably durable response to a combination of gemcitabine, which inhibits DNA methylation, and dacarbazine, following rapid tumour progression on doxorubicin.

Conclusions

Given the limited clinical experience with OFMT, multidisciplinary tumour boards are crucial for tailoring individualized treatment strategies. This study contributes to the growing body of literature on OFMT, providing a foundation for future research.
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骨化纤维黏液样肿瘤:一个病例系列。
背景:骨化性纤维黏液样瘤是一种罕见的软组织间充质肉瘤,分化不明确,转移潜力多变。患者和方法:本研究回顾性分析了1993年至2024年间诊断为OFMT的23例患者。结果:肿瘤最常见于四肢和躯干,所有患者均行原发肿瘤手术切除。免疫组织化学分析经常显示S100蛋白和desmin的表达,而下一代测序在83%的可用NGS患者中发现PHF1重排,特别是PHF1::EP400和PHF1::TFE3融合。5例发生局部复发,4例发生转移性疾病。没有前瞻性数据来指导关于全身治疗的决策,基于阿霉素的方案显示有限的疗效。然而,表观遗传失调在OFMT肿瘤发生中的潜在作用为治疗开辟了令人兴奋的途径。在这个队列中,一名患者在使用阿霉素治疗肿瘤迅速进展后,对抑制DNA甲基化的吉西他滨和达卡巴嗪的联合治疗表现出非常持久的反应。结论:鉴于OFMT的临床经验有限,多学科肿瘤委员会对于定制个性化治疗策略至关重要。本研究有助于扩充OFMT相关文献,为今后的研究奠定基础。
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来源期刊
European Journal of Cancer
European Journal of Cancer 医学-肿瘤学
CiteScore
11.50
自引率
4.80%
发文量
953
审稿时长
23 days
期刊介绍: The European Journal of Cancer (EJC) serves as a comprehensive platform integrating preclinical, digital, translational, and clinical research across the spectrum of cancer. From epidemiology, carcinogenesis, and biology to groundbreaking innovations in cancer treatment and patient care, the journal covers a wide array of topics. We publish original research, reviews, previews, editorial comments, and correspondence, fostering dialogue and advancement in the fight against cancer. Join us in our mission to drive progress and improve outcomes in cancer research and patient care.
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