Department of Pathology, Military University Hospital Prague, U Vojenske Nemocnice 1200, Praha 6, Prague 16902, Czech Republic; The Fingerland Department of Pathology, Charles University, Faculty of Medicine in Hradec Králové and University Hospital Hradec Králové, Sokolska 581, Hradec Kralove 50005, Czech Republic; Department of Pathology, Charles University, First Faculty of Medicine and General University Hospital in Prague, Studnickova 2039, Nové Mesto, Prague 12800, Czech Republic.
Department of Orthopedic Surgery, Charles University, Faculty of Medicine in Hradec Králové and University Hospital Hradec Králové, Czech Republic.
Pathol Res Pract. 2023 Nov;251:154831. doi: 10.1016/j.prp.2023.154831. Epub 2023 Oct 2.
Diagnosis of soft tissue tumors is often challenging, given the large number of entities, often with non-specific or overlapping morphology. Although morphology still plays an important part in diagnostic process, additional studies including immunohistochemistry and molecular genetics are often needed to arrive at correct diagnosis. We report a case of 61-year-old male with subcutaneous tumor in right hip area, that was surgically removed. The tumor was composed of uniform bland spindle cells in mild to moderately cellular myxoid nodules, with limited areas of collagenization and the diagnosis of low grade fibromyxoid sarcoma was made. The tumor recurred 3 years after the initial diagnosis and the new sample showed a high-grade round cell sarcoma with limited residual low-grade areas and non-specific immunoprofile after extended immunohistochemical work-up. Molecular analysis demonstrated ZC3H7B::BCOR fusion. Sarcomas with ZC3H7B::BCOR fusion occurring outside of uterus are exceedingly rare. A comprehensive review of previously published cases and a short discussion about classification of the entity is provided, together with data about morphology and immunoprofile of the lesions. The case also underscores the necessity of extended work up of soft tissue tumors with unusual immunohistochemical or morphological features in order to accurately assess their biological potential.
软组织肿瘤的诊断往往具有挑战性，因为存在大量的实体，其形态通常是非特异性的或重叠的。尽管形态学在诊断过程中仍然起着重要的作用，但通常需要额外的研究，包括免疫组织化学和分子遗传学，以得出正确的诊断。我们报告了一例 61 岁男性，右侧臀部有皮下肿瘤，已通过手术切除。肿瘤由均匀的温和梭形细胞组成，位于轻度至中度细胞性黏液样结节中，伴有有限的胶原化区域，诊断为低度纤维黏液样肉瘤。初次诊断 3 年后肿瘤复发，新样本显示高级别圆形细胞肉瘤，仅残留有限的低度区域，经过广泛的免疫组织化学检查后免疫表型不具有特异性。分子分析显示 ZC3H7B::BCOR 融合。发生在子宫外的具有 ZC3H7B::BCOR 融合的肉瘤极为罕见。对先前发表的病例进行了全面回顾，并对该实体的分类进行了简短讨论，同时还提供了病变的形态学和免疫表型数据。该病例还强调了对具有不寻常免疫组织化学或形态学特征的软组织肿瘤进行广泛检查的必要性，以便准确评估其生物学潜能。
