Tsuchiya H, Kaneko Y, Seguchi S, Matsui Y, Matsuyama T, Matsuda I
Department of Pediatrics, Kumamoto University School of Medicine, Japan.
Cancer Genet Cytogenet. 1993 Oct 1;70(1):17-20. doi: 10.1016/0165-4608(93)90125-6.
We treated a 16-month-old girl with myelodysplastic syndrome (MDS; refractory anemia with excess of blasts subtype, RAEB by FAB classification) that developed into acute megakaryoblastic leukemia (ANLL-M7). The blast cells were positive for CD41 shown by flow cytometry and for platelet peroxidase by electron microscopy. Cytogenetically, five kinds of abnormal karyotypes were apparent at the initial visit and karyotypic progression (clonal evolution) was also evident. These karyotypes were considered to be derived from the putative original clone, 48,XX, +6, +21. The observed karyotypes were considered 50,XX, +4,add(4)(q31), +6,add(7)(p22),add(10)(q24),add(12)(q11), +20, +21, + mar[karyotype A];48,XX,add(4)(q31), +6,add(10)(q24),add(12)(q11), +21 [karyotype B];48,XX, +6,t(6;13)(p23;q14), +21 [karyotype C];51,XX, +X, t(6;13)(p23;q14), + der(6)t(6;13)(p23;q14), +21, +21, + mar [karyotype D]; and 49,XX, +X, -3,t(6;13)(p23;q14), +der(6)t(6;13)(p23;q14), -12, +21, +21, + mar [karyotype E]. It seems karyotypes B and C were derived from the putative clone; karyotype B developed into karyotype A; and karyotype C developed into karyotype E through karyotype D. After development of ANLL-M7, the cytogenetic study showed a karyotype with further karyotypic progression. The patient was treated with high-dose cytosine arabinoside (HD AraC) followed by allogeneic bone marrow transplantation. Despite intensive care, she died 3 months after the transplantation.
我们治疗了一名16个月大的患有骨髓增生异常综合征（MDS；根据FAB分类为原始细胞增多的难治性贫血亚型，RAEB）的女孩，该疾病发展为急性巨核细胞白血病（ANLL-M7）。流式细胞术显示原始细胞CD41呈阳性，电子显微镜显示血小板过氧化物酶呈阳性。细胞遗传学方面，初诊时可见五种异常核型，核型进展（克隆演化）也很明显。这些核型被认为源自假定的原始克隆48,XX, +6, +21。观察到的核型分别为50,XX, +4,add(4)(q31), +6,add(7)(p22),add(10)(q24),add(12)(q11), +20, +21, + mar[核型A]；48,XX,add(4)(q31), +6,add(10)(q24),add(12)(q11), +21[核型B]；48,XX, +6,t(6;13)(p23;q14), +21[核型C]；51,XX, +X, t(6;13)(p23;q14), + der(6)t(6;13)(p23;q14), +21, +21, + mar[核型D]；以及49,XX, +X, -3,t(6;13)(p23;q14), +der(6)t(6;13)(p23;q14), -12, +21, +21, + mar[核型E]。似乎核型B和C源自假定的克隆；核型B发展为核型A；核型C通过核型D发展为核型E。ANLL-M7发生后，细胞遗传学研究显示核型有进一步的核型进展。该患者接受了大剂量阿糖胞苷（HD AraC）治疗，随后进行了异基因骨髓移植。尽管进行了精心护理，但她在移植后3个月死亡。
