鞍区BRAF突变型纤维黄色瘤3例临床病理特征  

Clinicopathological features of BRAF mutant xanthogranuloma in sellar region:report of three cases

作　　者：鲁涛[1] 张学威[2] 王明[2] 钟定荣[1] LU Tao;ZHANG Xue-wei;WANG Ming;ZHONG Dinf-rong(Department of Pathology;Department of Radiology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医院病理科,北京100730 [2]中国医学科学院北京协和医院放射科,北京100730

出　　处：《诊断病理学杂志》2018年第7期481-484,共4页Chinese Journal of Diagnostic Pathology

摘　　要：目的探讨鞍区BRAF突变型纤维黄色瘤患者的临床表现及病理特征。方法回顾性分析北京协和医院2011-08—2014-11间收治的3例鞍区纤维黄色瘤患者的临床资料、头部影像学表现、病理组织形态、免疫组化结果,并复习相关文献。结果 3例中男性1例,女性2例,年龄12~51岁,平均33岁。患者以头痛为主要临床表现。头部磁共振检查显示垂体内占位性病变。3例均经鞍区组织活检证实。病理检查见较多泡沫样组织细胞浸润,散在杜顿多核巨细胞,伴纤维组织增生及散在淋巴细胞和浆细胞浸润;免疫组化:CD68(+),CD1a和S-100(-)。3例实时荧光定量PCR检测BRAF V600E基因突变均为(+)。结论该病罕见,临床表现为头痛,也可无明显头部症状。纤维黄色瘤累及头部时可见鞍区内泡沫样组织细胞浸润及纤维化,需要与垂体瘤及淋巴细胞性垂体炎等疾病鉴别。该病有可能是Erdheim-Chester病早期改变或者局部表现。Objective To explore the clinicopathological features of BRAF mutant xanthogranuloma in the sellar region.Methods The clinical data in 3 cases of xanthogranuloma of the sellar region admitted to Peking Union Medical College Hospital from August 2011 to November 2014 were examined for imaging,pathological histology and immunohistochemical findings,and BRAFV600 E mutation. The related literatures were reviewed. Results Among all 3 cases,there were 1 male and 2 females,ranging from 12 to 15 years old,and the average age was 33 years old. They complained headache.Head MRI demonstrated space-occupying lesion located in the pituitary region. Surgical biopsy of the thoracic tissue was performed in all 3 cases. Microscopically,the lesion was composed of foamy histiocytes and scattered Touton-type giant cells enmeshed in reactive fibrous tissue. Lymphocytes and plasma cells were also found. Immunohistochemically,all the histiocytes were positive for CD68,none of them expressed CD1 a. BRAFV600 E gene mutation was detected by real-time quantitative PCR in all the cases. Conclusions BRAF mutant xanthogranuloma in the sellar region is rare,which clinical manifestation is headache,and some can be no obvious respiratory symptoms. BRAF mutant xanthogranuloma in the sellar region has important alterations,in which foamy histiocytes are enmeshed in reactive fibrous tissue. It should be differentiated from pituitary adenoma and lymphocytic hypophysis. The disease may be an early or local manifestation of Erdheim-Chester disease.

关 键 词：鞍区 BRAF突变 纤维黄色瘤 

分 类 号：R730.262[医药卫生—肿瘤]