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幼年型慢性粒细胞白血病(JCML)是婴儿或少年中一种罕见的疾病。该病患者有和成人CML不同的临床、血液学和细胞遗传学特点,以淋巴结肿大,湿疹样改变,病程早期即有血小板减少,马利兰疗效差和Ph染色体缺如为特征。已知c-abl和bcr基因融合是导致真正CML的关键性改变,应用分子探针可确认CML,而不论其是否有可见的染色体重排。本文报道1例JCML的细胞遗传学和分子生物学研究结果。患者系8个月男婴,具有JCML的临床和血液学特点,未加治疗而于确诊后4天死于心力衰竭。骨髓细胞染色体显带分析揭示正常核型。患者白血病细胞DNA分别用BglⅡ、BamHI和
Juvenile chronic myeloid leukemia (JCML) is a rare disease in infants or young adults. This patient has different clinical, hematological and cytogenetic characteristics than adult CML and is characterized by lymphadenopathy, eczematous changes, early thrombocytopenia, poor efficacy of Maryland, and absence of Ph chromosome. Fusion of c-abl and bcr genes is known to be a key change that leads to true CML, using molecular probes to confirm CML regardless of whether it has a visible chromosomal rearrangement. This paper reports a case of JCML cytogenetics and molecular biology research results. The patient, an 8-month-old baby boy with clinical and hematologic features of JCML, died of heart failure 4 days after diagnosis. Chromosome banding analysis of bone marrow cells revealed normal karyotypes. Patients with leukemia cell DNA were Bgl Ⅱ, BamHI and