Miura I, Hamanaka S C, Hashimoto K, Nishinari T, Nimura T, Mamiya S, Miura A B
Third Department of Internal Medicine, Akita University School of Medicine.
Rinsho Ketsueki. 1993 Apr;34(4):478-83.
The authors report a de novo AML (M2) patient associated with 5q- as the sole karyotypic abnormality. A 76-year-old woman was referred to our hospital because of anemia and leukocytosis. On examination a neck lymph node was enlarged, but neither the liver nor the spleen could be palpated. The hemoglobin level was 7.1g/dl, the mean corpuscular volume 102fl and the white-cell count was 256.1 x 10(3)/microliters with 87% blast cells. The platelet count was 10.9 x 10(4)/microliters. The bone marrow was hypercellular with 79.8% blast cells and showed dysmegakaryocytopoietic features (hypolobulation, multiple separated nuclei and micromegakaryocytes). Blast cells gave a positive reaction for peroxidase and alpha NB esterase which was not blocked by NaF. The diagnosis of AML (M2) was made but she died before chemotherapy. Autopsy revealed general hemorrhagic tendency and leukemic cell infiltration. Chromosome analysis of the bone marrow showed 46,XX,del(5) (q13q31). Electron micrographs revealed increase of micromegakaryocytes as small as myelocytes and aggregation of demarcation membranes in some megakaryocytes. This may suggest that some molecular changes, instead of karyotypic evolution, contributed to a leukemic transition from the 5q- syndrome to AML with 5q- as the sole abnormality.
作者报告了一例初发急性髓系白血病（M2型）患者，其唯一的核型异常为5号染色体长臂缺失（5q-）。一名76岁女性因贫血和白细胞增多症转诊至我院。检查发现颈部淋巴结肿大，但未触及肝脏和脾脏。血红蛋白水平为7.1g/dl，平均红细胞体积为102fl，白细胞计数为256.1×10³/微升，原始细胞占87%。血小板计数为10.9×10⁴/微升。骨髓细胞增生明显活跃，原始细胞占79.8%，并显示出巨核细胞生成异常特征（分叶过少、多个分离的细胞核和小巨核细胞）。原始细胞过氧化物酶和α萘酚丁酸酯酶染色呈阳性，且不被氟化钠阻断。诊断为急性髓系白血病（M2型），但她在化疗前死亡。尸检显示有全身出血倾向和白血病细胞浸润。骨髓染色体分析显示为46,XX,del(5)(q13q31)。电子显微镜检查发现有小至髓细胞大小的小巨核细胞增多，部分巨核细胞内分界膜聚集。这可能提示某些分子改变而非核型演变促成了从5q-综合征向以5q-为唯一异常的急性髓系白血病的白血病转化。
