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Objective:To compare the imaging features of renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE3 gene fusion (Xp11.2 RCC) with chromophobe RCC.Methods:From November 2016 to January 2020, 28 patients with Xp11.2 RCC and 28 patients with chromophobe RCC confirmed by pathology were retrospectively analyzed in Peking University First Hospital. All 23 patients underwent preoperative CT examination, and 5 patients underwent routine MRI in each group. The clinical and imaging features were observed and recorded. The CT features including side, location, size, boundary, shape, uniform density, composition (solid, cystic-solid, cystic), hemorrhage, calcification, lymph node metastasis of the lesions and distant metastasis were observed, and the CT value of the solid part of the tumor at each stage was measured. On MRI images, the signal of the lesion in each sequence and enhancement mode were observed. The differences in clinical and imaging characteristics between the 2 groups were compared using independent samples t test or χ 2 test. Results:The Xp11.2 RCC more frequently affected young [(27±10) years] patients, while chromophobe RCC more frequently involved middle-aged [(37±7) years] patients asymptomatically, and the difference was statistically significant ( t=-4.99, P<0.001). The lesion size of Xp11.2 RCC [(5.4±2.2) cm] were significantly smaller than that of chromophobe RCC [(6.9±1.8) cm] ( t=-2.93, P=0.005). There were significant differences in the density and composition of lesions between Xp11.2 RCC and chromophobe RCC (χ 2=4.60, 18.67, P=0.032,<0.001). There were no significant differences in the side, location, boundary, shape, hemorrhage, calcification, fat, lymph node metastasis and distant metastasis between the 2 kind of lesions (all P>0.05). The CT values of solid components in Xp11.2 RCC in cortico-medullary phase and delayed phase were higher than those in chromophobe RCC, and the difference were statistically significant ( t=11.80, 20.15, both P<0.001). Five cases of Xp11.2 RCC showed iso- or slightly hyperintense signal on T 1WI and slightly hypointense signal on T 2WI. Two cases showed delayed enhancement after enhancement, and 3 cases showed a slight decrease in delayed phase enhancement. Conclusion:Compared with chromophobe RCC, Xp11.2 RCC has certain characteristics in imaging manifestations (lesion size, density uniformity, composition, CT value of post-enhanced cortico-medullary phase and delayed phase). Imaging manifestations combining the clinical manifestations (age of onset) are helpful for preoperative diagnosis of Xp11.2 RCC.
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Objective:To summary the problems that may be encountered in the diagnosis of Xp11.2 translocation/TFE3 gene fusion associated renal cell carcinomas (Xp11 RCC) and to improve the understanding and diagnostic level.Methods:The clinical and pathological data of 5 children with Xp11 RCC pathologically diagnosed in Children′s Hospital of Capital Institute of Pediatrics from January 2015 to December 2019 were collected for retrospective analysis.Results:The 5 cases included 2 males and 3 females with the age of 4-8 years old.All cases presented with abdominal mass.Four cases received radical nephrectomy and radical tumor resection, and 1 case received simple tumor resection after related examination.Routine HE staining, immunohistochemical staining and fluorescence in situ hybridi-zation (FISH) were performed after surgery.The histological morphology of tumor was varied, and the tumor cells were arranged in nest flake, acinar or papillary pattern, with abundant cytoplasm form completely transparent to eosinophilic staining (pink), and gravel-like calcification was visible.Micropapillary arranged tumor cells appeared in 1 case besides classic pattern; in another case, the tumor cells were highly eosinophilic with abundant cytoplasm and visible round or elliptic eosinophilic bodies.The tumor cells in 5 cases showed diffuse and strong expression of TFE3, and FISH assay showed abnormal separation signal.Conclusions:Xp11 RCC is a relatively rare renal malignant tumor with diverse histological morphology, which should be distinguished from other common renal tumors in children.Its immunohistochemical expression and molecular detection are of specificity, and it should be diagnosed based on clinical incidence.
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Objective To investigate the imaging characteristics of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion. Methods We retrospectively analyzed the clinical and imaging data of five children with Xp11.2 tRCC confirmed by surgery and pathology in our hospital from January 2015 to December 2020. Four cases underwent CT plain scan and contrast-enhanced examination, and one case underwent MRI plain scan, contrast-enhanced examination and DWI examination. We observed and analyzed the location, size, shape, boundary, composition, enhancement pattern and degree, the relation with the renal hilum and adjacent large vessels, and the metastasis of the tumor. Results All cases were cortical-medullary type. Four cases were solid/cystic-solid lesions, iso- or slightly hyper-density on CT scans with calcification and necrosis, in which a few with bleeding or cystic lesions. Enhanced scanning primarily showed mild to moderate enhancement, and enhancement of pseudocapsule was seen during the delayed phase. One case was cystic lesion, the cystic fluid presented as hypo-density on CT, and T1 hypo-intensity and T2 hyper-intensity, as well as restricted diffusion on DWI. No enhancement was found in the cystic part after enhancement. There were irregular and thickened cystic wall and septum, and mural nodules on enhanced MRI. Conclusion Several characteristics of Xp11.2 tRCC in children could be drawn. Punctate and patchy calcifications in or around the solid/cystic-solid lesions and delayed "pseudocapsule sign" are typical. The possibility of Xp11.2 tRCC should be considered when there are irregular and thickened cystic wall and septum and the enhancement of mural nodules.
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Objective XPll.2/TFE RCC is an independent subtype of renal cell carcinoma, which is rare. The aim of this study is to investigate the CT features of Xp11.2/TFE RCC and improve the accuracy of diagnosis. MethodsCT findings of 30 cases from August 2009 to September 2017 of Xp11.2/TFE RCC from Eastern War Zone General Hospital, including location, density, edge, enhancement degree, lymphatic metastasis and others. They were analyzed respectively and compared with those of ccRCC. ResultsThe differences in CT values between tumors and renal cortex and renal medulla was statistically significant different phases (PP< 0.01). Most of patients with Xp11.2/TFE RCC are younger, about (36.4±17.7) years old. Females are more common, accounting for about 70% compared with ccRCC(50%). CT plan scan showed slightly higher density, about (45.2±8.9)HU vs (34.1±4.4)HU, high calcification rate, about 46.7% % vs 10.0% and CT scan with contrast agent showed gradual enhancement. The difference all were statistically significant(P<0.05). Conclusion XPll.2/ has certain CT characteristics. Combined with CT and clinical manifestation of patients, it is helpful to improve the accuracy of preoperative diagnosis.
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Objective To explore the clinical and pathological characters of Xp1 1.2 translocation renal cell carcinoma.Method We screened patients of renal cell carcinoma of PUMCH between Jan.2011 and Dec.2015,6 patients with Xp11.2 translocation renal cell carcinoma were found.There were 2 males and 4 females,with average age of 39 (ranging from 16 to 73 years old).Diameter of tumor ranged from 1.9cm to 19.0cm,and 9.6cra in average.Among which,3 cases were detected by routine physical examination,1 by severe anemia (Hb 66g/L),1 by gross hematuria,and 1 by flank discomfort.Before treatment,2 cases had local metastasis (local lymph node,renal pelvis invasion),1 had distant metastasis (pulmonary metastasis).CT examination showed that the tumors had soft tissue density / low density,with significant enhancment or uneven enhancement in enhanced scanning,and were all considered malignancy.6 patients were all treated with surgeries,of which 5 patients received radical nephrectomy,1 patient received nephron sparing surgery.Result Pathologically,most clear cells arranged in a papillary,nest like structure,with psaamoma bodies in them.Immunohistochemical examination showed that all patients were positive for TFE3.AE1/AE3,RCC,Vimentin,CD10,EMA,P504 were positive in different degree.According to pathological result,all 6 patients were proved to be Xp1 1.2 translocation renal cell carcinoma.After surgery,2 patients received immunotherapy,2 received targeted drug therapy,and 1 received local radiotherapy.The follow-up duration ranged from 9 to 56 months (average 37 months).Among which,1 patient died from tumor recurrence and multiple metastasis 22 months after surgery,1 had pulmonary metastasis 12 months after surgery,and the tumor had no significant progress after receiving targeted drug therapy.All the other patients survive without tumor recurrence.Conclusions Xp1 1.2 translocation renal cell carcinoma predominantly occurs in children and adults younger than 40 years.Arterial phase enhancement is slightly lower for Xp1 1.2 translocation renal cell carcinoma in CT scan than that of renal clear cell carcinoma.Histological features and immunohistochemical staining of TFE3 positive expression are important means of diagnosis of this disease.If necessary,gene detection could be done to make better diagnose.Surgery is preferred treatment option.Metastatic leads to poor prognosis,and need to be supplemented by targeted drug therapy.
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We represent a pathologically proven case of a four-year-old male patient with renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion, which is rare but more frequent in children or young adults. Computed tomography showed about 2.5 cm size ill-defined mass in the right kidney. The mass was hyperechoic on ultrasound. Magnetic resonance imaging demonstrated a mass with capsular enhancement and diffusion restriction. We present a case of Xp11.2 renal cell carcinoma and provide review of the literature.