The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia
The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia
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DOI：
10.1182/blood-2005-05-1898
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发表时间：
2005-11-15
期刊：
影响因子：
20.3
通讯作者：
Deininger, MWN
中科院分区：
文献类型：
--
作者：
Levine, RL;Loriaux, M;Deininger, MWN
已在造血和非造血恶性肿瘤中发现了酪氨酸激酶的激活突变。最近，我们和其他人在骨髓增生性疾病（MPD）真性红细胞增多症、原发性血小板增多症和骨髓纤维化的髓样化生中发现了Janus激酶2（JAK 2）酪氨酸激酶的一个复发性体细胞激活突变（JAK 2 V617 F）。我们使用直接序列分析来确定JAK 2 V617 F突变是否存在于急性髓性白血病（AML）、慢性粒单核细胞白血病（CMML/非典型慢性髓性白血病（aCML））、骨髓增生异常综合征（MDS）、B系急性淋巴细胞白血病（ALL）、T细胞ALL和慢性淋巴细胞白血病（CLL）中。对222例AML患者的分析在4例AML患者中发现了JAK 2 V617 F突变，其中3例先前患有MPD。在116例CMML/a CIVIL样本中的9例（7.8%）和48例MDS样本中的2例（4.2%）中鉴定出JAK 2 V617 F突变。我们没有在B系ALL（n = 83）、T细胞ALL（n = 93）或CLL（n = 45）中鉴定出JAK 2 V617 F疾病等位基因。这些数据表明JAK 2 V617 F等位基因存在于急性和慢性骨髓恶性肿瘤中，但不存在于淋巴恶性肿瘤中。
Activating mutations in tyrosine kinases have been identified in hematopoietic and nonhematopoietic malignancies. Recently, we and others identified a single recurrent somatic activating mutation (JAK2V617F) in the Janus kinase 2 (JAK2) tyrosine kinase in the myeloproliferative disorders (MPDs) polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. We used direct sequence analysis to determine if the JAK2V617F mutation was present in acute myeloid leukemia (AML), chronic myelomonocytic leukemia (CMML/atypical chronic myelogenous leukemia (aCML), myelodysplastic syndrome (MDS), B-lineage acute lymphoblastic leukemia (ALL), T-cell ALL, and chronic lymphocytic leukemia (CLL). Analysis of 222 patients with AML identified JAK2V617F mutations in 4 patients with AML, 3 of whom had a preceding MPD. JAK2V617F mutations were identified in 9 (7.8%) of 116 CMML/a CIVIL samples, and in 2 (4.2%) of 48 MDS samples. We did not identify the JAK2V617F disease allele in B-lineage ALL (n = 83), T-cell ALL (n = 93), or CLL (n = 45). These data indicate that the JAK2V617F allele is present in acute and chronic myeloid malignancies but not in lymphoid malignancies.