Bigoni R, Cuneo A, Roberti M G, Moretti S, De Angeli C, Dabusti M, Campioni D, del Senno L, Biondi A, Chaplin T, Young B D, Castoldi G
Dipartimento di Scienze Biomediche e Terapie Avanzate, Università di Ferrara, Italy.
Leukemia. 1999 May;13(5):704-7. doi: 10.1038/sj.leu.2401391.
A diagnosis of pro-B acute lymphoblastic leukemia (ALL) with CD15+ was made in a 42-year-old woman, 12 months after the treatment of uterine adenocarcinoma by carboplatinum, anthracyclines, etoposide and radiotherapy. Molecular cytogenetic studies revealed a karyotype with multiple chromosome changes, including the t(4;11)(q21;q23) and a 17p-chromosome, with MLL disruption and 17p13/p53 gene deletion in 86% of the cells. A p53 exon 6 mutation was documented, resulting in p53 protein stabilization, with 20% of the cells reacting with the 1801 anti-p53 monoclonal antibody. Dual-color FISH using MLL and p53 probes was performed on peripheral blood smears, providing direct evidence of the involvement of the blast cells and of the granulocytic lineage. Only a partial, shortlasting response was obtained by induction treatment, confirming that a poor prognosis is associated with therapy-related ALL with the 4;11 translocation.
一名42岁女性被诊断为伴有CD15+的前B细胞急性淋巴细胞白血病（ALL），这是在她接受卡铂、蒽环类药物、依托泊苷及放疗治疗子宫腺癌12个月后出现的。分子细胞遗传学研究显示其核型存在多个染色体改变，包括t(4;11)(q21;q23)和一条17号染色体短臂缺失，86%的细胞存在MLL基因断裂及17p13/p53基因缺失。记录到p53外显子6突变，导致p53蛋白稳定，20%的细胞与1801抗p53单克隆抗体发生反应。对外周血涂片进行使用MLL和p53探针的双色荧光原位杂交，为原始细胞和粒细胞系受累提供了直接证据。诱导治疗仅获得部分、短暂的反应，证实伴有4;11易位的治疗相关ALL预后不良。
