1Leukaemia Research Immunodiagnostics Unit, Nuffield Department of Clinical Laboratory Sciences, University of Oxford, John Radcliffe Hospital, Oxford, UK.
Haematologica. 2010 Apr;95(4):670-3. doi: 10.3324/haematol.2009.011817. Epub 2009 Dec 16.
Mutations in the C-terminal region of nucleophosmin in acute myeloid leukemia (AML) result in aberrant cytoplasmic nucleophosmin (cNPM) in leukemic blast cells which is detectable by immunocytochemistry in bone marrow trephine (BMT) biopsy sections. We tested whether cNPM is detectable by immunocytochemistry in air-dried smears of AML with nucleophosmin1 (NPM1) mutations. An immunoalkaline phosphatase method was developed using the OCI-AML3 cell line, known to have mutated NPM1, and assessed on blood and marrow smears of 60 AML cases. NPM was detectable in all blast cell nucleoli and cNPM in 21 of 31 of NPM1 mutated and 15 of 29 wild-type cases. Paired air-dried smears and BMT biopsies from the same case (mutated and wild-type) gave discrepancies in cNPM expression and there was no correlation in 10 of 22 cases. Due to the high false positive and negative rates for cNPM in cell smears, this method should not be used as a surrogate for NPM1 mutations in AML.
核仁磷酸蛋白（Nucleophosmin，NPM）在急性髓系白血病（AML）中的 C 端区域发生突变，导致白血病原始细胞中出现异常的细胞质核仁磷酸蛋白（cytoplasmic nucleophosmin，cNPM），可通过骨髓活检切片中的免疫细胞化学检测到。我们检测了是否可通过免疫细胞化学检测 NPM1 突变的 AML 中空气干燥涂片上的 cNPM。使用已知存在 NPM1 突变的 OCI-AML3 细胞系开发了免疫碱性磷酸酶法，并在 60 例 AML 病例的血液和骨髓涂片中进行了评估。在 31 例 NPM1 突变和 29 例野生型病例中，所有原始细胞核仁中均可检测到 NPM，在 21 例 NPM1 突变和 15 例野生型病例中可检测到 cNPM。来自同一病例（突变型和野生型）的配对空气干燥涂片和 BMT 活检在 cNPM 表达上存在差异，在 22 例中有 10 例无相关性。由于细胞涂片上 cNPM 的假阳性和假阴性率较高，因此该方法不应作为 AML 中 NPM1 突变的替代方法。
