McGlynn H, Kapelko K, Baker A, Burnett A, Padua R A
Department of Haematology, University of Wales College of Medicine, Cardiff, UK.
Leuk Res. 1997 Oct;21(10):919-23. doi: 10.1016/s0145-2126(97)00024-6.
The FMS proto-oncogene encodes for the colony stimulating factor-1 receptor expressed on monocytes and B lymphocytes within the peripheral blood system. Allelic loss of the FMS gene occurs in patients with refractory anaemia and the 5q- syndrome associated with the myelodysplastic syndromes. To determine the frequency of FMS gene loss in patients with myeloid malignancy, 50 DNA samples from patients with acute myeloid leukaemia (AML) and 30 samples from haematologically normal samples were analysed using a quantitative Southern blotting technique. Allelic loss of one allele (hemizygous) was detected in five of 18 samples of AM-M4 and eight of 27 samples of AML M1, M2 and M3. In addition, loss of both FMS alleles (homozygous) was demonstrated in three of 18 samples of AML M4 and 0127 samples of AML M1, M2 and M3. One patient with AML M5 and one with AML M6 were assessed although no allelic loss of FMS was detected. Three samples from patients with secondary AML were also analysed and hemizygous loss was detected in one case. Homozygous or hemizygous loss of FMS was not detected in any of 30 DNA samples isolated from haematologically normal individuals. These data indicate that loss of the FMS gene is common in AML, with an increased frequency in those patients with AML subtype M4.
FMS原癌基因编码集落刺激因子-1受体，该受体在外周血系统的单核细胞和B淋巴细胞上表达。FMS基因的等位基因缺失发生在难治性贫血患者以及与骨髓增生异常综合征相关的5q-综合征患者中。为了确定髓系恶性肿瘤患者中FMS基因缺失的频率，使用定量Southern印迹技术分析了50份急性髓系白血病（AML）患者的DNA样本和30份血液学正常样本。在18份AM-M4样本中的5份以及27份AML M1、M2和M3样本中的8份中检测到一个等位基因的缺失（半合子）。此外，在18份AML M4样本中的3份以及27份AML M1、M2和M3样本中的1份中证实了两个FMS等位基因的缺失（纯合子）。评估了1例AML M5患者和1例AML M6患者，尽管未检测到FMS等位基因缺失。还分析了3份继发性AML患者的样本，其中1例检测到半合子缺失。在从血液学正常个体分离的30份DNA样本中，未检测到任何FMS纯合子或半合子缺失。这些数据表明，FMS基因缺失在AML中很常见，在AML M4亚型患者中频率更高。
