METHODS: Here we report a case of 16-year-old male diagnosed with a de novo pre-B-ALL. Molecular approaches (array-based multicolor banding (aMCB) and array comparative genomic hybridization (aCGH)) were applied, and a unique complex karyotype involving six chromosomes was identified. It included three previously unreported chromosomal aberrations: dicentric dic(9;20;X), deletion del(7)(p22.2p15.2) and dicentric dic(7;13). The dicentric dic(9;20;X) also led to monoallelic loss of tumor suppressor gene CDKN2A. After successful chemotherapeutic treatment the patient experienced a relapse with a secondary ALL without complex karyotype but a deletion del(19)(p13). Unfortunately, the patient died after 17 months of the initial diagnosis.
CONCLUSIONS: To the best of our knowledge, a comparable childhood ALL associated with such complex karyotype and deletion del(19)(p13) in secondary ALL was not previously reported. Thus, the complex karyotype with dicentrc dic(9;20;X) seems to indicate for a poor prognosis.
方法:在此,我们报告一例16岁男性,诊断为从头前B-ALL。应用分子方法(基于阵列的多色条带(aMCB)和阵列比较基因组杂交(aCGH)),并鉴定了涉及六个染色体的独特复杂核型。它包括三个以前未报告的染色体畸变:双心dic(9;20;X),缺失del(7)(p22.2p15.2)和双中心dic(7;13)。双中心dic(9;20;X)也导致抑癌基因CDKN2A的单等位基因丢失。在成功的化疗治疗后,患者经历了继发性ALL的复发,没有复杂的核型,但缺失del(19)(p13)。不幸的是,患者在初步诊断17个月后死亡.
结论:据我们所知,以前没有报道过与继发性ALL中此类复杂核型和缺失del(19)(p13)相关的儿童ALL.因此,复杂的核型与dicentrcdic(9;20;X)似乎表明预后不良。