Michiels J J, Mallios-Zorbala H, Prins M E, Hählen K, Hagemeijer A
Br J Haematol. 1986 Nov;64(3):425-33. doi: 10.1111/j.1365-2141.1986.tb02199.x.
Thirteen patients with simple monosomy 7 presented with pallor in 11, easy bruisability in five, splenomegaly in four, no infections, refractory anaemia in all, granulocytopenia in seven, monocytosis in three, leucocytosis in four and thrombocytopenia in eight. Peripheral blood and bone marrow findings were consistent with myelodysplastic syndrome (MDS) type I in three, type II in two, type III in two, type IV in three and acute myelofibrosis in three patients. Transformations to acute leukaemia in seven patients were M2 in one, M4 in four, megakaryoblastic in one and undifferentiated in one. Lack of chromosome 7 in 12-85% of analysed cells at initial presentation of MDS progressed to nearly 100% during blastic transformation. At that time an additional change in the long arm of chromosome 3 was seen in two patients and trisomy 8 in 6% of analysed cells in a third case. The median survival time was 12 months for MDS and 3 months for acute leukaemia. Simple monosomy 7 appears to be largely confined to young children and elderly people.
13例单纯7号染色体单体患者中，11例有面色苍白，5例有易瘀斑，4例有脾肿大，无感染，所有患者均有难治性贫血，7例有粒细胞减少，3例有单核细胞增多，4例有白细胞增多，8例有血小板减少。外周血和骨髓检查结果显示，3例符合I型骨髓增生异常综合征（MDS），2例符合II型，2例符合III型，3例符合IV型，3例符合急性骨髓纤维化。7例患者转化为急性白血病，其中1例为M2型，4例为M4型，1例为巨核细胞型，1例为未分化型。MDS初诊时，12 - 85%的分析细胞中缺乏7号染色体，在 blast 转化期间进展至近100%。此时，2例患者出现3号染色体长臂的额外改变，第三例患者6%的分析细胞中出现8号染色体三体。MDS的中位生存时间为12个月，急性白血病为3个月。单纯7号染色体单体似乎主要局限于幼儿和老年人。
