股骨近端骨巨细胞瘤合并妊娠一例报告

Proximal Femoral Giant Cell Tumor of Bone during Pregnancy: A Case Report

摘要: 本研究报告一例罕见的累及股骨头颈交界区、伴病理性骨折的股骨近端骨巨细胞瘤。患者为25岁初孕妇，妊娠9周，跌倒后出现急性右髋疼痛。影像学检查显示一个33HU的囊性病变，并伴有右股骨颈嵌插骨折。经过多学科风险效益评估后，实施了分期干预。因此，患者接受了扩大刮除术、同种异体骨重建及空心螺钉内固定术，随后进行了药物流产。组织病理学和下一代测序证实了骨巨细胞瘤的诊断，该肿瘤携带H3F3A p.G34W突变。术后7个月观察到部分骨性连接。然而，在48周随访时，持续的不愈合(肌肉骨骼肿瘤协会评分15分)使得有必要转为全髋关节置换术。现有证据支持对年轻患者采取保关节策略以优化功能结果。鉴于股骨近端的高剪切应力和延迟骨愈合，应考虑采用更强的固定结构。因此，需要进行长期监测以早期发现肿瘤复发并评估育龄妇女的生殖功能。

Abstract: In the present study, a unique case of proximal femoral giant cell tumor with pathological fracture involving the femoral head-neck junction was reported. A 25-year-old primigravida at 9 weeks of gestation presented with acute right hip pain following a fall. Imaging revealed a cystic lesion of 33 Hounsfield units and an impacted fracture of the right femoral neck. After multidisciplinary risk-benefit evaluation, a staged intervention was undertaken. Therefore, the patient underwent extended curettage with allograft reconstruction and cannulated screw fixation, followed by medical abortion. Histopathological and next-generation sequencing confirmed a diagnosis of giant cell tumor of bone harboring a H3F3A p.G34W mutation. At seven months postoperatively, partial osseous bridging was observed. However, persistent non-union (Musculoskeletal Tumor Society score, 15) at 48-week follow-up necessitated conversion to total hip arthroplasty. Current evidence supports joint-preserving strategies in young patients to optimize functional outcomes. Given the high shear stress and delayed bone healing of the proximal femur, stronger fixation constructs should be considered. Long-term surveillance is therefore needed for the early detection of tumor recurrence and for evaluating reproductive function in women of childbearing age.