胫骨原发性卡波西型血管内皮瘤：一例携带既往未报道GNAQ突变的病例报告
本文报告一例成年男性胫骨原发性卡波西型血管内皮瘤（KHE），表现为左膝疼痛，影像学示胫骨骨骺偏心性边界清楚的溶骨性病变，MRI T1呈低至等信号、STIR高信号；11个月后病变进展伴皮质侵蚀和软组织延伸。病理见肾小球样毛细血管增生及梭形细胞束，CD31/CD34阳性，淋巴管成分podoplanin阳性，数字PCR检出既往未报道的GNAQ T96S突变。
要点
- 骨内KHE极罕见，影像上可表现为边界清楚的偏心性溶骨性病变，需与其它骨肿瘤鉴别。
- MRI T1低至等信号、STIR高信号，随访可进展出现皮质侵蚀和软组织延伸。
- 确诊依赖病理（肾小球样血管结构+梭形细胞束，CD31/CD34阳性），早期识别可及时手术治愈。
关键影像表现/征象
- X线示胫骨骨骺偏心性边界清楚的溶骨性病变。
- MRI T1WI呈低至等信号，STIR序列呈高信号。
- 11个月后MRI示病变进展，伴皮质侵蚀和软组织延伸。
- 病理见不规则结节穿透骨小梁，由肾小球样结构（密集毛细血管、扁平内皮细胞无核异型）组成。
- 另见温和梭形细胞束伴裂隙样腔隙（类似卡波西肉瘤），混有扩张淋巴管和多个结节状淋巴聚集。
诊断标准与关键数值
- 肿瘤细胞CD31和CD34阳性，淋巴管成分podoplanin阳性。
- 数字液滴PCR检出GNAQ T96S突变，未检测到其他GNAQ突变。
临床应用与阅片要点
- 骨内KHE影像表现非特异，对偏心性溶骨性病变伴MRI T1低至等信号、STIR高信号需考虑本病可能。
- 随访中若出现皮质侵蚀和软组织延伸提示病变进展，应积极活检或手术。
- CT引导活检病理可能不确定，需结合分子检测（如GNAQ突变）辅助诊断。
局限性
- 单例病例报告，证据级别低，结论外推受限。
- 原文未报告随访时长、影像定量参数或诊断效能数据。
以上解读依据论文摘要（全文未开放获取或许可不允许翻译转载）。
英文原文（摘要）· 点击展开
Primary occurrence of Kaposiform hemangioendothelioma (KHE) in bone is extremely rare. We report the radiologic, histopathologic and molecular features of a case of KHE affecting the tibia of an adult male, who presented with pain in the left knee initially associated with previous trauma. Radiographs showed an eccentric well-defined lytic lesion of the tibial epiphysis. On MRI, the lesion showed hypo to isointensity on T1-weighted images and hyperintensity on STIR sequences. A CT-guided biopsy was pathologically inconclusive. MRI performed 11 months later showed lesion progression with cortical erosion and soft tissue extension. Extended curettage was performed and histologically the lesion consisted of irregular nodules permeating bone trabeculae, composed of glomeruloid structures with densely packed capillary-sized vessels lined by flat endothelial cells without nuclear atypia. A second component of bland spindle cells arranged in fascicles with slit-like spaces resembling Kaposi sarcoma was present, together with intermixed dilated lymphatic channels and multiple nodular lymphoid aggregates. Neoplastic cells were positive for CD31 and CD34, whereas podoplanin was positive in the lymphatic component. Using digital droplet PCR, we identified a previously unreported GNAQ T96S mutation, whereas other GNAQ mutations were not detected. Despite its rarity, recognition of intraosseous KHE is crucial because it allows for prompt curative surgical treatment and avoids potential complications.
引用
- Arcovito G, Gaeta R, Aringhieri G, et al. Primary Kaposiform hemangioendothelioma of the tibia: report of a case with a previously undescribed GNAQ mutation. Skeletal Radiol. 2026. PMID: 42103999. doi:10.1007/s00256-026-05245-9
供执业医师工作参考，不替代临床判断；数值与分级以指南原文为准。