Savola Paula, Rajala Hanna, Mustjoki Satu
Duodecim. 2016;132(15):1328-35.
Large granular lymphocyte (LGL) leukemia is a chronic hematological disease, in which the diseased cells consist of clonal large, mature T or NK cells. Major symptoms and findings of the disease include anemia, neutropenia and rheumatoid arthritis. Immunosuppressive treatments, such as methotrexate, usually relieve the symptoms in patients. In LGL leukemia, next-generation sequencing has recently revealed mutations in the STAT3 and STAT5B genes that lead to the activation of these proteins. Similar mutations have been detected in hereditary autoimmune diseases, disorders of bone marrow and malignancies of lymphocyte origin.
大颗粒淋巴细胞（LGL）白血病是一种慢性血液疾病，患病细胞由克隆性大的成熟T细胞或NK细胞组成。该疾病的主要症状和表现包括贫血、中性粒细胞减少和类风湿性关节炎。免疫抑制治疗，如甲氨蝶呤，通常可缓解患者症状。在LGL白血病中，新一代测序最近发现STAT3和STAT5B基因发生突变，导致这些蛋白质激活。在遗传性自身免疫性疾病、骨髓疾病和淋巴细胞源性恶性肿瘤中也检测到类似突变。
