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Abstract：
BACKGROUND: About 25 years ago, the acquired chromosome abnormality dicentric dic(9;20)(p11 ~ 13;q11) was seen described as a non-random aberration in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Yet, about 200 cases were reported. However, dicentric dic(9;20) is a subtle abnormality which easily may be mixed up with monosomy 20 and/or del(9p). The dicentric dic(9;20) can be found as a sole chromosomal abnormality or can be masked within complex rearrangements; also, a dicentric dic(9;20) is often associated with mono- or biallelic loss of CDKN2A gene.
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.
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.
摘要：
背景：大约25年前，获得性染色体异常双中心dic（9;20）（p11〜13;q11）被认为是B细胞前体急性淋巴细胞白血病（BCP-ALL）的非随机畸变。然而，报告约200例。然而,双心dic（9;20）是一种微妙的异常，很容易与20和/或del（9p）混合。双中心dic（9;20）可以被发现为唯一的染色体异常，或者可以在复杂的重排中被掩盖;双中心dic（9;20）通常与CDKN2A基因的单或双等位基因丢失有关。
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。
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。
