儿童EB病毒相关平滑肌肿瘤1例

Epstein-Barr virus-associated smooth muscle tumor in a girl

摘要:

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。

Abstract:

A girl, aged 7 years, was admitted due to pain in both lower limbs for more than one year. Lumbar MRI showed soft tissue masses in the paravertebral region. Cerebral MRI showed nodular masses in the cavernous sinus at both sides. Chest CT showed high-density nodules in the outer basal segment of the right inferior lobe and the anterior segment of the left upper lobe of the lung. Biopsy of lumbar lesions showed Epstein-Barr (EB) virus-related smooth muscle tumor. Genetic testing showed a de novo mutation, c.725_730delAGAGTA (p.K242_S243del), in the ITK gene. The masses in the lumbar vertebra were removed by surgery, and then the pain in both lower limbs disappeared. This article reports a case of EB virus-related smooth muscle tumor with a deletion mutation in the ITK gene, which provides experience for the diagnosis and treatment of this disease.