朗格汉斯细胞组织细胞增生症临床病理分析并文献复习

Langerhans cell histiocytosis:a clinicopathological analysis and review of literature

目的 探讨朗格汉斯细胞组织细胞增生症(Langerhans cell histiocytosis, LCH)的临床病理特征、免疫表型、诊断与鉴别诊断及其预后与BRAF突变的相关性。方法 收集2012-10—2021-08中国人民解放军陆军第七十三集团军医院病理科确诊的15例LCH,研究其临床病理学及免疫组化特征,检测BRAF V600E突变,并进行随访,分析BRAF V600E突变与患者预后的关联。结果 15例中10例为男性,5例为女性,≥16岁者9例,<16岁者6例,15例均为单病灶,其中9例发生于骨骼,5例发生于淋巴结,1例发生于皮肤。组织学均见特征性的朗格汉斯细胞增生。免疫表型:肿瘤细胞Langerin、S-100、CD1a及CyclinD1均为阳性。15例中7例伴有BRAF突变(约53.3%)。结论 LCH多见于男性患者,单系统发病较多,免疫组化Langerin、S-100和CD1a表达对准确诊断必不可少,CyclinD1可区分肿瘤性朗格汉斯细胞与反应性朗格汉斯细胞,组织学形态及免疫组化检测为该疾病诊断的金标准,BRAF V600E突变在该疾病的发病及进展中有一定意义,但具体机制仍不明确。

Objective To investigate the clinicopathologic characteristics, immune phenotype, diagnosis and differential diagnosis and prognosis correlation with BRAF mutations of Langerhans cell histiocytosis. Methods The clinopathologic and immunohistochemical characteristics were studied in 15 cases of LCH in the PLA 73 rd Group Hospital from October 2012 to August 2021. BRAF V600 E mutation was detected, and follow-up conducted;the association of BRAF V600 E mutation and patient prognosis was then analyzed. Results Ten out of the 15 cases were male, 5 cases were female;9 cases aged older than 16 years, and 6 cases under 16 years. 15 cases were single lesion, including 9 cases in bone, 5 cases in lymph nodes and 1 in the skin. Histologically, the tumor cells were similair to langerhans cells. Immunophenotypically, Langerin, S-100, CD1 a and CyclinD1 were positive in the tumor cells. Seven of the 15 cases were accompanied by BRAF mutations(approximately 53.3%). Conclusion LCH is mostly seen in male patients with more single system involvement, and immunohistochemical S-100 and CD1 a expression is essential for accurate diagnosis. CyclinD1 can distinguish neoplastic Langhans cells from reactive Langhans cells. Histological morphology and immunohistochemical detection are the gold standard for the diagnosis of the disease. BRAF V600 E mutation has some significance in the onset and progress of the disease, but the specific mechanism is still unclear.