Suzuki S, Hashino S, Yoshida S, Chiba K, Izumiyama K, Kurosawa M, Musashi M, Asaka M
Third Department of Internal Medicine, Hokkaido University, School of Medicine, Kita-15, Nishi-7, Kita-ku, Sapporo 060-8638, Japan.
Ann Hematol. 2002 Oct;81(10):605-8. doi: 10.1007/s00277-002-0531-y. Epub 2002 Oct 2.
We report a case of leukemic transformation from myelodysplastic syndrome (MDS) with a sole chromosome abnormality of del11(p11-13). The patient had been diagnosed as having MDS (refractory anemia with excess of blast cells, RAEB) in May 1998. At that time, cytogenetic analysis of bone marrow cells showed a normal karyotype. The patient received sequential chemotherapy with low-dose cytosine arabinoside (AraC) and macrophage colony-stimulating factor (M-CSF). Complete remission was obtained with this treatment, but the disease gradually progressed after June 1999. Cytogenetical analysis showed del11(p11-13) in 6 of 40 cells analyzed at that time, and the disease had evoluted to overt leukemia in December 1999 with a gradual increase in the abnormal clone. Furthermore, mRNA of the WT1 gene located at chromosome 11p13 was overexpressed during leukemic transformation, whereas it was not detected at the time of the initial diagnosis of MDS (RAEB) in May 1998. It was thought that this chromosome deletion and overexpression of WT1 resulted in the leukemic transformation in this patient. This is the first case report of del11(p11-13) being considered to be the primary cause of leukemic transformation from MDS.
我们报告一例骨髓增生异常综合征（MDS）白血病转化病例，其唯一的染色体异常为del11(p11 - 13)。该患者于1998年5月被诊断为患有MDS（原始细胞过多的难治性贫血，RAEB）。当时，骨髓细胞的细胞遗传学分析显示核型正常。患者接受了小剂量阿糖胞苷（AraC）和巨噬细胞集落刺激因子（M - CSF）的序贯化疗。通过该治疗获得了完全缓解，但在1999年6月后疾病逐渐进展。当时对40个细胞进行的细胞遗传学分析显示，其中6个细胞存在del11(p11 - 13)，并且在1999年12月疾病已演变为明显的白血病，异常克隆逐渐增加。此外，位于11号染色体p13的WT1基因的mRNA在白血病转化期间过度表达，而在1998年5月MDS（RAEB）初始诊断时未检测到。据认为，这种染色体缺失和WT1的过度表达导致了该患者的白血病转化。这是首例认为del11(p11 - 13)是MDS白血病转化主要原因的病例报告。
