背景:马拉克斑病是一种罕见的泌尿生殖道炎症性疾病。迄今为止,还没有关于表达间变性淋巴瘤激酶(ALK)的malakopakia的报道。这里,我们通过免疫组织化学方法介绍了一例ALK异常表达的ma斑,并讨论了其临床意义。
方法:一名65岁的中国女性,有糖尿病史,肝脏和肾脏有实体肿块,结肠粘膜表面有升高的病变。行右肾切除术和部分肝切除术。微观上,可见细胞间粘附不良的组织细胞片,胞内和胞外间质中都存在米氏-古特曼体。CD10-,CD68-,和CD163阳性细胞存在,米迦勒-古特曼尸体被阿尔辛蓝染色证实,高碘酸希夫(PAS),高碘酸-希夫与淀粉酶,冯·科萨,还有普鲁士蓝.在细胞的细胞质和细胞核中观察到异常的ALK1和ALK(D5F3)表达。然而,通过荧光原位杂交或全外显子组下一代测序未检测到ALK基因突变。NGS揭示了9个体细胞基因突变:GOT1L1,GLIS2,SPOUT1,TMEM97,MUC3A,NSD2、SFXN5、ADAD1和RAD50。本研究中检测到的体细胞基因突变的意义尚不清楚,现有的科学研究无法阐明它们与马斑病之间的关系。免疫组化病理诊断为真斑病,ALK异常表达。根据药敏分析结果,开始使用亚胺培南和万古霉素抗生素,患者随后出院。在30个月的随访期间,她没有出现不适。
结论:这是首例ALK异常表达的malakopakia病例,应与ALK阳性组织细胞增生症鉴别,避免误诊。
BACKGROUND: Malakoplakia is a rare inflammatory disease of the urogenital tract. There have been no reports of malakoplakia expressing anaplastic lymphoma kinase (ALK) to date. Here, we present one case of malakoplakia with aberrant ALK expression by immunohistochemistry and discuss the clinical significance.
METHODS: A 65-year-old Chinese woman with a history of diabetes presented with solid masses in the liver and kidney and elevated lesions on the mucosal surface of the colon. Right nephrectomy and partial liver resection were performed. Microscopically, sheets of histiocytes with poor intercellular adhesion were seen, with Michaelis-Gutmann bodies present in both the intracellular and extracellular interstitium. CD10-, CD68-, and CD163-positive cells were present, with Michaelis-Gutmann bodies confirmed by staining with Alcian blue, periodic acid-Schiff (PAS), periodic acid-Schiff with diastase, Von Kossa, and Prussian blue. Aberrant ALK1 and ALK (D5F3) expression was observed in the cytoplasm and nucleus of cells. However, ALK gene mutation was not detected by fluorescence in situ hybridization or whole exome next-generation sequencing. NGS revealed nine individual somatic gene mutations: GOT1L1, GLIS2, SPOUT1, TMEM97, MUC3A, NSD2, SFXN5, ADAD1 and RAD50. The significance of the somatic gene mutations detected in this study is not clear, and the relationship between them and malakoplakia cannot be clarified by existing scientific studies. The pathological diagnosis was malakoplakia with aberrant ALK expression by immunohistochemistry. The antibiotics imipenem and vancomycin were started based on the results of drug sensitivity analysis and the patient was subsequently discharged. She experienced no discomfort during 30 months of follow-up.
CONCLUSIONS: This is the first reported case of malakoplakia with aberrant ALK expression, it should be differentiated from ALK-positive histiocytosis to avoid misdiagnosis.