Dipartimento di Scienze e Tecnologie Biomediche, Facoltà di Medicina, Università di Udine, Udine, Italy.
Hematol Oncol. 2010 Sep;28(3):151-5. doi: 10.1002/hon.906.
Nucleophosmin 1 (NPM1) is an abundant phosphoprotein mainly located in the nucleolus but also shuttling between the nucleus and cytoplasm. NPM1 has been proposed to be involved in synthesis and processing of ribosomal RNA, regulation of chromatin structure and transport of rRNA and ribosomal proteins. NPM1 gene is considered to be implicated in human cancer as it is a frequent target of genetic alterations, primarily in haematopoietic neoplasms. We describe a case of a therapy-responder acute myeloid leukaemia (AML) patient bearing two novel NPM1 mutations. Cells' transfection studies indicate that the presence of one of these mutations is associated to an abnormal nucleolar structure, suggesting that NPM1 may contribute to the control of nucleolar integrity.
核仁磷酸蛋白 1（Nucleophosmin 1，NPM1）是一种丰富的磷蛋白，主要位于核仁，但也在核和细胞质之间穿梭。NPM1 被认为参与核糖体 RNA 的合成和加工、染色质结构的调节以及 rRNA 和核糖体蛋白的运输。NPM1 基因被认为与人类癌症有关，因为它是遗传改变的常见靶点，主要发生在造血肿瘤中。我们描述了一例对治疗有反应的急性髓系白血病（AML）患者，该患者携带两种新的 NPM1 突变。细胞转染研究表明，其中一种突变的存在与异常的核仁结构有关，提示 NPM1 可能有助于控制核仁的完整性。
