Laboratoire d'Oncologie Moléculaire, Centre de Recherche en Cancérologie de Marseille, UMR1068 Inserm, Institut Paoli-Calmettes, Marseille, France.
Genes Chromosomes Cancer. 2012 Aug;51(8):743-55. doi: 10.1002/gcc.21960. Epub 2012 Apr 9.
Since the discovery of the JAK2V617F tyrosine kinase-activating mutation several genes have been found mutated in nonchronic myeloid leukemia (CML) myeloproliferative neoplasms (MPNs), which mainly comprise three subtypes of "classic" MPNs; polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF). We searched for mutations in ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 genes in 149 non-CML MPNs, including 127 "classic" MPNs cases. JAK2 was mutated in 100% PV, 66% ET and 68% MF. We found a high incidence of ASXL1 mutation in MF patients (20%) and a low incidence in PV (7%) and ET (4%) patients. Mutations in the other genes were rare (CBL, DNMT3A, IDH2, MPL, SF3B1, SUZ12, NF1) or absent (IDH1).
自发现 JAK2V617F 酪氨酸激酶激活突变以来，已经发现了几种非慢性髓性白血病（CML）骨髓增生性肿瘤（MPN）中的基因突变，这些突变主要包括三种“经典”MPN 亚型：真性红细胞增多症（PV）、原发性血小板增多症（ET）和骨髓纤维化（MF）。我们在 149 例非 CML MPN 中，包括 127 例“经典”MPN 病例中，搜索了 ASXL1、CBL、DNMT3A、IDH1、IDH2、JAK2、MPL、NF1、SF3B1、SUZ12 和 TET2 基因的突变。JAK2 在 100%的 PV、66%的 ET 和 68%的 MF 中发生突变。我们发现 MF 患者的 ASXL1 突变发生率较高（20%），而 PV（7%）和 ET（4%）患者的突变发生率较低。其他基因的突变很少见（CBL、DNMT3A、IDH2、MPL、SF3B1、SUZ12、NF1）或不存在（IDH1）。
