伴PDGFRB重排髓系肿瘤继发性间质性肺炎1例  

Myeloid neoplasm with the abnormality of PDGFRB gene secondary interstitial pneumonia:A case report

作　　者：刘贵钱 欧阳若芸[1] 陈平[1] 刘婷 周莉[1] 沈冲 LIU Guiqian;OUYANG Ruoyun;CHEN Ping;LIU Ting;ZHOU Li;SHEN Chong(Department of Respiratory and Critical Care Medicine,Second Xiangya Hospital,Central South University,Changsha 410011,China)

机构地区：[1]中南大学湘雅二医院呼吸与危重症医学科,长沙410011

出　　处：《中南大学学报（医学版）》2020年第3期345-348,共4页Journal of Central South University ：Medical Science

基　　金：国家重点临床专科建设项目(2012-650);湖南省财政厅产业研发项目(2015-83)。

摘　　要：1例伴PDGFRB重排髓系肿瘤继发性间质性肺炎的66岁男性患者以干咳、活动后气促起病;2年前肺部高分辨率CT(high-resolution computed tomography,HRCT)示肺间质性病变,未查找到明确病因,诊断为特发性肺纤维化。此次住院期间HRCT提示肺间质性病变较前明显进展,且外周血嗜酸性粒细胞显著增高,骨髓融合基因检测ETV6-PDGFRB阳性,确诊为PDGFRB重排髓系肿瘤继发性间质性肺炎。PDGFRB重排髓系肿瘤是一种较罕见的血液系统肿瘤,以髓系增生异常、嗜酸性粒细胞增多、PDGFRB基因重排为主要特征,多为男性,常有脾肿大,少数有肝、皮肤、心以及其他器官组织损害。对本病的治疗目前首选酪氨酸激酶抑制药伊马替尼。We report a case of myeloid neoplasm with the abnormality of PDGFRB gene secondary interstitial pneumonia. A 66-year-old male complained dry cough and shortness of breath after regular activities. Two years ago, high-resolution computerized tomography(HRCT)showed interstitial lung diseases, and no clear etiology was found. At that time, the diagnosis was idiopathic pulmonary fibrosis. In the period of hospitalization, the interstitial lung disease was significantly advanced, and the peripheral blood eosinophil was significantly increased. ETV6-PDGFRB fusion genes was positive detected by FISH.Myeloid neoplasm with the abnormality of PDGFRB gene was diagnosed. The patient was treated with the tyrosine kinase inhibitor-imatinib mesylate which is the first choice for this disease currently. Myeloid neoplasm with the abnormality of PDGFRB gene is a rare hematologic tumor characterized by myeloid dysplasia, eosinophilia, and PDGFR gene rearrangement. Most of this tumor occurs in male, often with splenomegaly, and a few have damages in liver, skin, heart, and other organ tissues.

关 键 词：髓系肿瘤 PDGFRB基因 克隆性嗜酸性粒细胞增高症 间质性肺炎 治疗 

分 类 号：R563.13[医药卫生—呼吸系统] R733.3[医药卫生—内科学]