Ohsaka Akimichi, Hisa Tomoko
Department of Transfusion Medicine, Juntendo University School of Medicine, Tokyo, Japan.
Acta Haematol. 2002;107(4):224-9. doi: 10.1159/000058319.
We report a case of atypical chronic myeloid leukemia who showed leukocytosis with immature granulocytes and dysplastic features but no monocytosis or basophilia. Cytogenetic analysis by conventional G-banding showed an abnormal clone, which was interpreted as 46,X,-Y,+der(?)t(?;1)(?;q?1), and no Philadelphia chromosome. Reverse transcription-polymerase chain reaction did not show either major or minor BCR-ABL chimeric mRNA. Spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) refined the karyotype to 46,X,der(Y)t(Y;1)(q11.1 or.2;q12). The der(Y)t(Y;1) abnormality was reported previously in 9 cases and associated with myelodysplastic syndrome or chronic myeloproliferative disorders. SKY in combination with the standard banding method and FISH may be useful for exploring undefined chromosome abnormalities in hematological disorders.
我们报告一例非典型慢性髓系白血病患者，其表现为白细胞增多伴未成熟粒细胞及发育异常特征，但无单核细胞增多或嗜碱性粒细胞增多。通过传统G显带进行的细胞遗传学分析显示一个异常克隆，其被解释为46,X,-Y,+der(?)t(?;1)(?;q?1)，且无费城染色体。逆转录聚合酶链反应未显示主要或次要的BCR-ABL嵌合mRNA。光谱核型分析（SKY）和荧光原位杂交（FISH）将核型精确为46,X,der(Y)t(Y;1)(q11.1或.2;q12)。der(Y)t(Y;1)异常先前在9例病例中报道过，与骨髓增生异常综合征或慢性髓系增殖性疾病相关。SKY联合标准显带方法和FISH可能有助于探索血液系统疾病中不明的染色体异常。
