Abstract
报道多系统受累的间变性淋巴瘤激酶(ALK)阳性组织细胞增生症1例。患者女,35岁。因发现左乳肿物10 d入院。镜下见乳腺组织内梭形细胞增生、交错排列,细胞核卵圆形,核分裂象罕见,胞质丰富、嗜碱或透亮,背景可见散在淋巴细胞浸润,及散在残存的脂肪细胞及乳腺导管。免疫组织化学染色显示异常增生的梭形细胞CD68、CD163、ALK阳性,广谱细胞角蛋白(CKpan)、p63、Langerin、S-100蛋白、CD34、β-catenin、结蛋白、Calponin、STAT6阴性。ALK荧光原位杂交(FISH)分离探针检测显示ALK基因有断裂。二代测序于DNA及RNA水平均检测到ALK::KIF5B基因融合。ALK阳性组织细胞增生症是新近收录于第5版WHO造血与淋巴组织肿瘤的罕见病例,是伴有ALK::KIF5B基因融合的独特亚型,常常伴有多系统受累,ALK抑制剂靶向治疗有效、但远期生存情况不明确。经验不足的医师容易因认识不足而误诊,因此需要充分认识其临床表现、病理特征与分子改变。.
MeSH terms
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Adult
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Anaplastic Lymphoma Kinase* / genetics
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Anaplastic Lymphoma Kinase* / metabolism
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Antigens, CD / metabolism
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Antigens, Differentiation, Myelomonocytic / metabolism
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Breast Neoplasms / genetics
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Breast Neoplasms / metabolism
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Breast Neoplasms / pathology
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CD68 Molecule*
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Female
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Histiocytosis* / genetics
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Histiocytosis* / metabolism
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Histiocytosis* / pathology
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Humans
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In Situ Hybridization, Fluorescence
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Oncogene Proteins, Fusion / genetics
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Oncogene Proteins, Fusion / metabolism
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Receptors, Cell Surface*
Substances
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Anaplastic Lymphoma Kinase
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ALK protein, human
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Antigens, CD
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Antigens, Differentiation, Myelomonocytic
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Oncogene Proteins, Fusion
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CD68 antigen, human
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CD163 antigen
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CD68 Molecule
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Receptors, Cell Surface