Abstract

7岁患儿以左眼结膜出血、凝血因子减少及血小板减少为首发表现,影像检查发现颅面、肺间质和脾脏受侵犯,因不能手术未获标本进行病理检查。丙种球蛋白、糖皮质激素等治疗无效,西罗莫司初始治疗有部分效果但后续又加重,改用曲美替尼治疗后病情缓解。外周血循环肿瘤细胞DNA检测发现NRAS 基因c.182A>G(p.Q61R)突变,确诊为卡波西样淋巴管瘤病。口服曲美替尼治疗11个月,左眼结膜出血未再反复,脾脏缩小,肺间质病变逐渐好转。.

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