ALK是子宫炎症性肌纤维母细胞肿瘤特异性诊断标志物

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  摘要:炎症性肌纤维母细胞肿瘤(inflammatory myofibroblastictumor, IMT)是一种具有中度恶性潜能的肌纤维母细胞/纤维母细胞肿瘤,通常特征性地表现为ALK与多种伴侣基因发生基因融合,导致激酶抑制剂靶向的ALK信号通路激活。IMT可发生在女性生殖道,子宫(宫体和宫颈)是最常见的部位。近期研究表明,发生于女性生殖道的IMT尚未被充分认识,建议至少要进行ALK免疫组织化学染色。本研究的目的是评估ALK免疫组织化学染色对从子宫间叶和混合性上皮/间叶肿瘤中识别出IMT的特异性。我们对14例经分子检测证实的子宫IMT和260例其他类型子宫单纯性间叶和混合性上皮/间叶肿瘤进行ALK免疫组织化学染色。肿瘤细胞呈细胞质和/或细胞膜着色的病例均被认为是ALK阳性。所有14例IMT经RNA测序均被证实具有ALK基因融合,且14例病例的ALK染色均呈现核旁加重的颗粒状细胞质着色模式。所有其他单纯性间叶肿瘤和混合性上皮/间叶肿瘤的ALK均为阴性(完全缺乏着色)。我们的结果表明,ALK是具有ALK融合的子宫间叶肿瘤的一种高度特异的免疫组化标记物。在子宫间叶肿瘤(尤其是呈黏液样间质改变的平滑肌肿瘤)的诊断中,如果观察到ALK阳性,高度考虑诊断为IMT。
  关键词:ALK, 子宫肉瘤,炎症性肌纤维母细胞肿瘤,基因融合
Am J Surg Pathol 2018;42:1353-1359)
美国外科病理学杂志中文版2019年第2期全文No.1
(杨 丽 翻译 张 静 审校)






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