Xp11.2易位/TFE3基因融合相关性肾癌(罕见型)多模态影像表现、病理特点及应用

Xp11.2 translocation/TFE3 gene fusion-related renal cancer (rare type) multimodal imaging manifestations, pathological features and application

目的 探讨Xp11.2易位/TFE3基因融合相关性肾癌多模态影像表现及病理学特点。方法 收集西部战区总医院2017年1月—2021年12月Xp11.2易位/TFE3基因融合相关性肾细胞癌患者5例,结合文献资料综合分析该病的多模态影像学表现及病理学特点,并探讨应用价值。结果 超声示:3例为等或稍强回声,2例回声混杂;4例彩色多普勒血流显像(CDFI)显示其内血流信号丰富。CT示:4例等或稍高密度,1例高低混杂密度;平扫CT值29~68 HU,增强2例强化明显,2例轻度强化,1例强化不明显。MRI示:4例患者病灶信号呈等T1、等或稍长T2信号,1例信号较混杂,2例病灶内出现短T1、短T2出血信号,3例DWI弥散受限,增强与CT强化特点一致。单光子发射计算机断层成像术(SPECT)检查2例出现骨转移。行^(18)F-FDG PET/CT检查,放射性摄取较高共3例,放射性摄取较低2例,其中SUVmax为2.5~12.7,平均4.3。大体:4例呈实性,1例呈囊实性;切面4例灰白,1例杂色,5例切面伴囊性变,3例可见出血。镜下:肿瘤由嗜酸性细胞或透明细胞构成的乳头状、巢状及腺泡状结构,乳头轴心为纤维血管轴心,肿瘤细胞界限较清楚,胞浆丰富,嗜酸或透明,4例核仁较明显,均见砂砾体。免疫组化:4例TFE3、CD10、Vim(+),3例E-cadherin(+),2例CK8/18、RCC、EMA(+),1例CK、PAX-8、CAIX(+)。结论 Xp11.2易位/TFE3基因融合相关性肾癌多模态影像学能全面反映瘤灶形态学的特点,确诊需结合病理,影像检查手段序贯应用有助于该病的精确诊断,并各有侧重点及优势互补,可协助手术规划,合理安排复查并及时更改治疗方案。

Objective To analyze the multimodal imaging manifestations and pathological characteristics of Xp11.2 translocation/TFE3 gene fusion-related renal cancer.Methods Five patients with Xp11.2 translocation/TFE3 gene fusion-associated renal cell carcinoma were collected from the Western Theater General Hospital from January 2017 to December 2021.The multimodal imaging findings and pathological characteristics of the disease were comprehensively analyzed based on literature data,and the application value was discussed.Results Three cases had equal or slightly strong echoes,two cases had mixed echoes,and four cases showed that the blood flow signal was abundant in CDFI.4 cases were equal or slightly dense,1 case had high and low mixed density,the CT value of flat scan was 29HU~68HU,2 cases of enhancement were significantly strengthened,2 cases were mildly strengthened,and 1 case was not significantly strengthened.The lesion signals of 4 patients showed equal T1,equal or slightly longer T2 signals,1 case had mixed signals,2 patients had short T1 and short T2 bleeding signals in the lesions,and 3 cases had limited DWI diffusion,Enhancement was consistent with the CT enhancement characteristics.SPECT showed bone metastases in 2 cases;^(18)F-FDG PET/CT examination,a total of 3 cases of high radioactivity uptake and 2 cases of low radioactivity uptake,of which SUVmax was 2.5~12.7,with an average of 4.3.Roughly:4 cases were solid,1 case was cystic,4 cases were gray and white in section,1 case was variegated,5 cases were sectional with cystic changes,and bleeding was visible in 3 cases.Microscopic:The tumor is composed of eosinophils or transparent cells with papillary,nest-like and acinar structures,the papillary axis is a fibrovascular axis,the tumor cells are more clearly defined,the cytoplasm is rich,acidophilic or transparent,4 cases of nucleoli are more obvious,all see grit.Immunohistochemistry:4 cases of TFE3,CD10,Vim(+),3 cases of E-cadherin(+),2 cases of CK8/18,RCC,EMA(+),1 case of CK,PAX-8,CAIX(+).Conclusion Xp11.2 translocation/TFE3 gene fusion-related multimodal imaging of renal cancer can fully reflect the morphology of tumor lesions,and the diagnosis needs to be combined with pathology,and the sequential application of imaging examination methods is conducive to the accurate diagnosis of the disease,and each has its own focus and complementary advantages,which can assist in surgical planning,reasonable arrangement of review and timely change of treatment plan.