Spirito Francesca R, Mancini Marco, Derme Valentina, Cimino Giuseppe, Testi Anna Maria, Tafuri Agostino, Vitale Antonella, Foà Robin
Dipartimento di Biotecnologie Cellulari ed Ematologia, University La Sapienza, Via Benevento 6, 00161 Rome, Italy.
Cancer Genet Cytogenet. 2003 Jul 1;144(1):69-72. doi: 10.1016/s0165-4608(02)00924-x.
Trisomy 13 occurring as a single cytogenetic abnormality has been associated with undifferentiated or biphenotypic acute leukemias and with an adverse prognostic outcome. We describe for the first time a case of B-cell common acute lymphoblastic leukemia (ALL) with trisomy 13 at diagnosis in an 18-year-old boy. The leukemic cells did not express myelocytic or T-cell associated antigens and no molecular abnormalities were detected. Following treatment, according to the GIMEMA ALL 0496 protocol, the patient achieved a brief (2 months) complete remission. At relapse, cytogenetic analysis showed karyotypic evolution that included two novel subclones carrying a del(6q), a del(7q), and an add(17q) in association with trisomy 13. In addition, immunophenotypic analysis revealed the coexpression of the CD33 and CD7 antigens on common ALL blasts, in accordance with other reported cases that displayed a predominant biphenotypic leukemia profile. The patient failed to obtain a second remission and died soon after due to infective complications. This report indicates that trisomy 13 can be found also in B-lineage ALL and underlines that this cytogenetic abnormality may identify a subgroup of male patients with clonal evolution potential and an adverse clinical outcome.
作为单一细胞遗传学异常出现的13三体综合征与未分化或双表型急性白血病以及不良预后相关。我们首次描述了一名18岁男孩诊断为B细胞普通型急性淋巴细胞白血病（ALL）且伴有13三体的病例。白血病细胞不表达髓细胞或T细胞相关抗原，未检测到分子异常。按照GIMEMA ALL 0496方案进行治疗后，患者实现了短暂（2个月）的完全缓解。复发时，细胞遗传学分析显示核型演变，包括两个新的亚克隆，携带del(6q)、del(7q)和add(17q)并伴有13三体。此外，免疫表型分析显示普通ALL原始细胞上CD33和CD7抗原共表达，这与其他报道的呈现主要双表型白血病特征的病例一致。患者未能获得第二次缓解，随后不久因感染并发症死亡。本报告表明13三体也可在B系ALL中发现，并强调这种细胞遗传学异常可能识别出具有克隆进化潜力和不良临床结局的男性患者亚组。
