JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia
JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia
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DOI：
10.1182/blood-2005-05-1800
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发表时间：
2005-11-15
期刊：
影响因子：
20.3
通讯作者：
Issa, JPJ
中科院分区：
文献类型：
--
作者：
Jelinek, J;Oki, Y;Issa, JPJ
最近在慢性骨髓增生性疾病（MPDs）中发现了JAK2 （Janus kinase 2）酪氨酸激酶的1849G>T激活突变。它在其他血液肿瘤中的作用尚不清楚。我们开发了一种定量焦磷酸测序法，并分析了374例血液肿瘤样本。该突变常见于真性红细胞增多症（PV）（86%）和骨髓纤维化（95%），但在有PV或骨髓纤维化先例的急性髓性白血病（AML）中不太常见（14例患者中有5例[36%]）。16例费城染色体（Ph）阴性的慢性髓性白血病（CML）患者中有3例（19%）、11例巨核细胞性AML患者中有2例（18%）、52例慢性髓单核细胞白血病患者中有7例（13%）、68例骨髓增生异常综合征患者中有1例（1%）检测到JAK2突变。Ph+CML（99例）、AML M0-M6（28例）、急性淋巴细胞白血病（20例）未发现突变。我们得出结论，JAK2 1849G>T突变在Ph- MPD中很常见，但对这些疾病的急性期转化并不重要，并且在侵袭性白血病中通常很少见。
An activating 1849G>T mutation of JAK2 (Janus kinase 2) tyrosine kinase was recently described in chronic myeloproliferative disorders (MPDs). Its role in other hematologic neoplasms is unclear. We developed a quantitative pyrosequencing assay and analyzed 374 samples of hematologic neoplasms. The mutation was frequent in polycythemia vera (PV) (86%) and myelofibrosis (95%) but less prevalent in acute myeloid leukemia (AML) with an antecedent PV or myelofibrosis (5 [36%] of 14 patients). JAK2 mutation was also detected in 3 (19%) of 16 patients with Philadelphia-chromosome (Ph)-negative chronic myelogenous leukemia (CML), 2 (18%) of 11 patients with megakaryocytic AML, 7 (13%) of 52 patients with chronic myelomonocytic leukemia, and 1 (1%) of 68 patients with myelodysplastic syndromes. No mutation was found in Ph+CML (99 patients), AML M0-M6 (28 patients), or acute lymphoblastic leukemia (20 patients). We conclude that the JAK2 1849G>T mutation is common in Ph- MPD but not critical for transformation to the acute phase of these diseases and that it is generally rare in aggressive leukemias.