累及甲状腺的朗格汉斯细胞组织细胞增生症的临床病理分析  

Clinicopathological features of Langerhans cell histiocytosis involving thyroid gland

作　　者：金哲 仵倩 林岚 唐峰 JIN Zhe;WU Qian;LIN Lan;TANG Feng(Department of Pathology,Eye&ENT Hospital,Fudan University,Shanghai 200031,China;Department of Pathology,Huashan Hospital,Fudan University,Shanghai 200040,China)

机构地区：[1]复旦大学附属眼耳鼻喉科医院病理科,上海200031 [2]复旦大学附属华山医院病理科,上海200040

出　　处：《复旦学报（医学版）》2024年第1期89-95,共7页Fudan University Journal of Medical Sciences

摘　　要：目的探讨累及甲状腺的朗格汉斯细胞组织细胞增生症(Langerhans cell histiocytosis,LCH)的临床病理学特征。方法回顾性分析复旦大学附属华山医院2017年6月至2022年11月期间5例甲状腺受累的LCH患者的临床信息、形态学特征、免疫组化特点及分子学检测结果,并结合相关文献进行讨论。结果男性1例,女性4例,29~57岁,中位年龄31岁,超声均表现为甲状腺低弱回声结节。形态学上均显示大量朗格汉斯细胞,细胞含有丰富的嗜酸性胞质,细胞核呈卵圆形,或有纵向核沟,呈咖啡豆样,核仁不明显,伴有大量淋巴细胞、嗜酸性粒细胞浸润。免疫组化显示:5例肿瘤细胞CD1α、S100、Langerin均阳性,Ki67增殖指数均大于15%,其中最高达70%。经分子检测的4例病例均未检出BRAF V600E和MAP2K1基因突变。结论甲状腺LCH罕见,多数病例为多系统LCH累及甲状腺,常表现为甲状腺无痛性肿大,治疗方法常为外科手术切除。病理表现为大量朗格汉斯细胞及嗜酸性粒细胞弥漫成片,伴有正常甲状腺滤泡结构破坏。分子学改变上存在BRAF V600E和MAP2K1低突变率的特点。Objective To summarize the clinical and pathological characteristics of Langerhans cell histiocytosis(LCH)involving thyroid gland.Methods We reviewed 5 cases of histologically confirmed LCH with thyroid gland involvement in Huashan Hospital,Fudan University from Jun 2017 to Nov 2022 and analyzed their clinicopathological features.Results There were 1 male and 4 females aged from 29 to 54 years,with a median age of 31 years.Ultrasound showed hypoechoic nodules of thyroid.Morphologically,there were a large number of Langerhans cells,which contained abundant eosinophilic cytoplasm.The nucleus was oval,or had deeply grooved nuclei,which was like coffee beans.The nucleolus was not obvious,accompanied by a variable number of lymphocytes and eosinophils infiltration.The lesional cells were positive for CD1α,S100,Langerin,and Ki67 proliferation index was more than 15%,of which the highest was 70%.The tested 4 cases were all BRAF V600E and MAP2K1 gene mutation negative.Conclusion Cases limited to the thyroid were exceedingly rare.Most cases occurred in patients with multifocal disease.The clinical manifestations were painless enlargement of the thyroid gland.Surgical resection was a common treatment.Pathological manifestations included a large number of Langerhans cells and eosinophils diffused with the destruction of normal thyroid follicular structures.There was a characteristic of low mutation rates in BRAF V600E and MAP2K1 genes.

关 键 词：朗格汉斯细胞组织细胞增生症(LCH) 甲状腺疾病 病理学 

分 类 号：R365[医药卫生—病理学]