Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics（2021）

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Abstract

7岁女性患儿,因双下肢疼痛1年余入院.腰椎MRI提示椎旁团块状软组织肿块;头颅MRI提示双侧海绵窦区结节状肿块;胸部CT示右肺下叶外基底段及左肺上叶前段高密度结节灶.腰椎病变组织病理活检示EB病毒相关平滑肌肿瘤.基因检测示ITK基因存在c.725_730delAGAGTA(p.K242_S243del)新发突变.治疗上予手术切除腰椎处肿块,术后患儿双下肢疼痛消失.该文报道了1例EB病毒相关平滑肌肿瘤伴ITK基因缺失突变,为该病的诊断及治疗提供了经验.

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Key words

smooth muscle tumor,epstein-barr epstein-barr virus-associated,[epstein-barr

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儿童EB病毒相关平滑肌肿瘤1例