费城染色体阳性急性髓系白血病的从头分子特征。
Molecular characterization of de novo Philadelphia chromosome-positive acute myeloid leukemia.
机构信息
Department of Hematopathology, The University of Texas M. D. Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX 77030, USA.
出版信息
Leuk Lymphoma. 2013 Jan;54(1):138-44. doi: 10.3109/10428194.2012.701739. Epub 2012 Jul 9.
Philadelphia chromosome-positive (Ph+) acute myeloid leukemia (AML) is a controversial diagnosis, as others propose that it represents chronic myelogenous leukemia in blast phase (CML-BP). NPM1 mutations occur in 25-35% of patients with AML but are absent in patients with CML. Conversely, ABL1 mutations occur in 25% of imatinib-naive patients with CML-BP but are not described in patients with AML. We analyzed for NPM1 and ABL1 mutations in nine Ph+ patients with AML and five patients with CML-BP initially presenting in BP. In six cases of Ph+ AML, we screened for a panel of gene mutations using Sequenome(®)-based methods including AKT1, AKT2, AKT3, BRAF, EGFR, GNAQ, GNAS, IDH1, IDH2, KRAS, MET, NRAS, PIK3CA and RET. Two of nine (22%) patients with Ph+ AML had NPM1 mutations and were alive 36 and 71 months after diagnosis. All cases of Ph+ AML were negative for ABL1 and other gene mutations. One (20%) patient with CML-BP had ABL1 mutation; no patients had NPM1 mutations. These data suggest that Ph+ AML is distinct from CML-BP.
费城染色体阳性（Ph+）急性髓系白血病（AML）是一个有争议的诊断，因为其他人认为它代表慢性髓系白血病的急变期（CML-BP）。NPM1 突变发生在 25-35%的 AML 患者中，但不存在于 CML 患者中。相反，ABL1 突变发生在 25%的初发急变期 CML-BP 的伊马替尼初治患者中，但在 AML 患者中未被描述。我们分析了 9 例 Ph+AML 患者和 5 例初发急变期 CML-BP 患者的 NPM1 和 ABL1 突变。在 6 例 Ph+AML 中，我们使用基于 Sequenome（®）的方法筛选了一组基因突变，包括 AKT1、AKT2、AKT3、BRAF、EGFR、GNAQ、GNAS、IDH1、IDH2、KRAS、MET、NRAS、PIK3CA 和 RET。9 例 Ph+AML 中有 2 例（22%）患者存在 NPM1 突变，诊断后 36 和 71 个月仍存活。所有 Ph+AML 病例均为 ABL1 和其他基因突变阴性。1 例（20%）CML-BP 患者存在 ABL1 突变；无患者存在 NPM1 突变。这些数据表明 Ph+AML 与 CML-BP 不同。
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