RAS基因相关性自身免疫淋巴增殖性疾病1例并文献复习  

RAS-associated autoimmune lymphoproliferative disorder:A case report and literature review

作　　者：姜健[1] 步晓洁 张秋业[1] 孙立荣[1] 赵艳霞[1] JIANG Jian;BU Xiaojie;ZHANG Qiuye;SUN Lirong;ZHAO Yanxia(Department of Pediatrics Hematology,The Affi-liated Hospital of Qingdao University,Qingdao 266003,China)

机构地区：[1]青岛大学附属医院儿童血液肿瘤科,山东青岛266003

出　　处：《精准医学杂志》2024年第5期452-454,458,共4页Journal of Precision Medicine

基　　金：山东省医药卫生科技发展计划项目(2017WS003)。

摘　　要：目的探讨RAS基因相关自身免疫淋巴增殖性疾病(Ras-associated autoimmune lymphoproliferative disorders,RALD)的临床特征及诊疗方法。方法分析2019年本院诊治的1例RALD患者的临床资料,以基因NRAS、KRAS或RALD为检索词,检索PubMed、中国知网、万方数据库2000年1月—2023年11月RAS基因变异相关文献并进行复习。结果患者因“发现血小板减少1.5年,反复发热1.5月”收住院。查体:轻度贫血貌,腹部膨隆,肝脏肋下5 cm,质韧,脾脏肋下3 cm。CD4-CD8-细胞的比例占淋巴细胞的2.3%。NK细胞脱颗粒功能下降。基因检测:存在NRAS基因2号外显子c.38G>A、p.G13D体细胞突变。共检索到RALD患者32例,其中NRAS基因体细胞突变致RALD有13例,KRAS基因体细胞突变致RALD有19例。32例RALD患者主要特征包括脾脏肿大,免疫性贫血,血小板减少,高丙种球蛋白血症,单核细胞增多,双阴性T细胞比例正常或轻度升高。结论RALD患者的临床特征为肝脾肿大、存在自身免疫现象等,基因分析有助于该疾病的诊断。Objective To investigate the clinical features and diagnosis and treatment of RAS-associated autoimmune lymphoproliferative disorder(RALD).Methods We reported the clinical data of a case of RALD diagnosed and treated in our hospital in 2019,and reviewed relevant literature on RAS variation retrieved using the keywords“NRAS”,“KRAS”,and“RALD”through PubMed,CNKI,and Wanfang Data between January 2000 and November 2023.Results The patient was hospitalized due to recurrent fevers for 1.5 months with a 1.5 years history of thrombocytopenia.The physical signs included an appearance of mild anemia,an abdominal bulge,a hard liver palpable up to 5 cm below the costal margin,and the spleen edge up to 3 cm below the costal margin.CD4-CD8-cells accounted for 2.3%of lymphocytes.The degranulation of NK cells decreased.Gene sequencing detected a somatic mutation in exon 2 of the NRAS gene c.38G>A(p.G13D).A total of 32 cases of RALD were retrieved,including 13 cases caused by NRAS somatic mutations and 19 cases caused by KRAS somatic mutations.The main clinical features of the 32 patients included splenomegaly,autoimmune anemia,thrombocytopenia,hypergammaglobulinemia,mononuc-leosis,a normal or slightly elevated proportion of double-negative T cells.Conclusion RALD is characterized by hepatosplenomegaly and autoimmunity,and gene testing is helpful for its diagnosis.

关 键 词：基因 RAS 突变 自身免疫疾病 淋巴组织增殖性疾病 

分 类 号：R593.2[医药卫生—内科学]