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早在50年前,血液学家就注意到再生障碍性贫血(aplastic anemia,AA)与其他克隆性造血疾病相关,引发著名的“Dameshek之谜”[1-2]。此后,X染色体灭活式样分析以及细胞遗传学研究相继揭示AA骨髓偏颇造血和经常出现染色体核型异常,证明其克隆性造血特征。与其他原发恶性血液肿瘤克隆性造血发生机制并不完全相同,AA骨髓造血干祖细胞池极度萎缩和免疫发病机制的病理生理背景在其克隆造血的发生、发展中同样发挥重要作用,赋予AA克隆性造血独特特性。现代分子遗
As early as 50 years ago, hematologists noticed that aplastic anemia (AA) was associated with other clonal hematopoiesis and triggered the famous “mystery of Dameshek” [1-2]. Since then, the X chromosome inactivation style analysis and cytogenetic studies have revealed AA bone marrow hematopoietic hematopoietic and often appear abnormal karyotype, to prove its clonal hematopoietic characteristics. The pathogenesis of clonal hematopoiesis is not completely the same as that of other primary hematologic malignancies. The pathophysiological background of AA bone marrow hematopoietic stem and progenitor cell pool and the pathogenesis of immune suppression play an important role in the occurrence and development of clonal hematopoiesis. AA Clonal hematopoietic unique characteristics. Modern molecular legacy