Resurfacing Threats: Metastatic Ossifying Fibromyxoid Tumor Emerging After Almost Two Decades

IF 2.3 2区医学 Q2 GENETICS & HEREDITY

Genes, Chromosomes & Cancer Pub Date : 2025-11-12 DOI:10.1002/gcc.70091

Mario Ambros, Bernadette Liegl-Atzwanger, Karl Kashofer, Andreas Leithner

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引用次数: 0

Abstract

Background

Ossifying fibromyxoid tumor (OFMT) is an extremely rare mesenchymal tumor of uncertain differentiation having a potential for local recurrences and metastasis. OFMT can be classified as typical, atypical, and malignant tumors based on nuclear grade, cellularity, and mitotic rate. However, predicting the biological behavior remains challenging. We report one of these challenging cases of OFMT with metastases after 19 years. The primary tumor did not show morphologic characteristics of malignancy. We performed targeted RNA sequencing, copy number variation (CNV) analysis on all lesions and additional DNA methylation profiling.

Presentation of the Case

Herein we report the case of a 66-year-old Caucasian female patient diagnosed in 2004 with an OFMT on her back that was surgically removed. In August 2023, the patient presented with two new soft tissue lesions in the right lower thigh and left gluteal area. Biopsy has been performed on both lesions. Pathology reports demonstrated an OFMT with an EP400:PHF1 fusion. Both tumors were confirmed to represent the identical entity. Surgical removal of both tumors was performed with clear margins. The presence of late sequential metastases 19 years after initial resection of an OFMT, without any signs of malignancy after pathology review of the 2004 lesion was suggested. In December 2023, a potential fourth similar mass was detected with MRI and a full body PET-CT within the distal left semimembranosus muscle. A biopsy of this lesion has not been performed yet. It is currently being closely monitored through regular MRI examinations with contrast agents at intervals of 3 months.

Conclusion

This case demonstrates the rare unpredictable potential of even typical OFMT to develop multiple soft tissue metastases after 19 years. Therefore, clinicians need to be aware of the metastatic potential of this tumor. Comprehensive and prolonged postoperative follow-up is necessary to track local recurrences and metastases.

Abstract Image

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重新表面的威胁：转移性骨化纤维黏液样肿瘤在近二十年后出现。

背景：骨化性纤维黏液样瘤（OFMT）是一种非常罕见的间充质肿瘤，分化不明确，有局部复发和转移的可能。根据核分级、细胞结构和有丝分裂率，OFMT可分为典型、非典型和恶性肿瘤。然而，预测生物行为仍然具有挑战性。我们报告了一个在19年后发生转移的OFMT病例。原发肿瘤未表现出恶性肿瘤的形态学特征。我们对所有病变进行了靶向RNA测序、拷贝数变异（CNV）分析和额外的DNA甲基化分析。病例介绍：在此，我们报告一位66岁的白人女性患者，2004年诊断为背部的OFMT，手术切除。2023年8月，患者在右下大腿和左臀区出现两处新的软组织病变。对两个病变都进行了活检。病理报告显示OFMT伴有EP400:PHF1融合。两个肿瘤被证实代表同一实体。手术切除了两个肿瘤，边缘清晰。在首次切除OFMT 19年后出现晚期顺序转移，在2004年病变病理检查后没有任何恶性肿瘤迹象。2023年12月，通过MRI和全身PET-CT在左半膜肌远端检测到第四个潜在的类似肿块。尚未对该病变进行活组织检查。目前正通过每隔3个月使用造影剂的定期MRI检查密切监测。结论：本病例表明，即使是典型的OFMT，在19年后也有罕见的不可预测的发生多发软组织转移的可能性。因此，临床医生需要意识到这种肿瘤的转移潜力。全面和长期的术后随访是必要的，以跟踪局部复发和转移。

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

Genes, Chromosomes & Cancer 医学-遗传学

CiteScore

7.00

自引率

8.10%

发文量

审稿时长

4-8 weeks

期刊介绍： Genes, Chromosomes & Cancer will offer rapid publication of original full-length research articles, perspectives, reviews and letters to the editors on genetic analysis as related to the study of neoplasia. The main scope of the journal is to communicate new insights into the etiology and/or pathogenesis of neoplasia, as well as molecular and cellular findings of relevance for the management of cancer patients. While preference will be given to research utilizing analytical and functional approaches, descriptive studies and case reports will also be welcomed when they offer insights regarding basic biological mechanisms or the clinical management of neoplastic disorders.