Harris Rachel L, Harrison Christine J, Martineau Mary, Taylor Kerry E, Moorman Anthony V
Cancer Sciences Division, University of Southampton, MP 822, Duthie Building, Southampton General Hospital, SO16 6YD Southampton, UK.
Cancer Genet Cytogenet. 2004 Jan 15;148(2):159-62. doi: 10.1016/s0165-4608(03)00272-3.
Acute lymphoblastic leukemia (ALL) is characterized by recurrent clonal chromosomal abnormalities, with numerical abnormalities being a common feature especially among children. Case reports in the literature suggest that one such recurrent numerical abnormality is the gain of chromosome 5 (trisomy 5) as the sole abnormality; due to the rarity of these cases, however, little is known about their incidence, clinical features, and prognosis. We have identified seven cases with trisomy 5 as the sole or primary chromosomal abnormality from a total of 3,400 karyotypes collected in the Leukaemia Research Fund UK Cancer Cytogenetics Group Karyotype Database. All cases had a precursor B-cell immunophenotype and there was a male predominance. Five patients were children aged between 7 and 14 years old. Four of the six patients with a reasonable follow-up period had relapsed, indicating a poor prognosis. We conclude that trisomy 5 as the sole numerical abnormality occurs predominantly in older children, may be associated with a poor outcome, and may represent a distinct, albeit rare, cytogenetic subgroup in ALL.
急性淋巴细胞白血病（ALL）的特征是反复出现克隆性染色体异常，其中数目异常是常见特征，在儿童中尤为如此。文献中的病例报告表明，一种这样反复出现的数目异常是单独的5号染色体增加（5号染色体三体）；然而，由于这些病例罕见，对其发病率、临床特征和预后知之甚少。我们从英国白血病研究基金会癌症细胞遗传学组核型数据库收集的3400个核型中，鉴定出7例以5号染色体三体作为唯一或主要染色体异常的病例。所有病例均为前体B细胞免疫表型，且以男性为主。5例患者为7至14岁的儿童。在有合理随访期的6例患者中，有4例复发，提示预后不良。我们得出结论，单独的5号染色体三体主要发生在大龄儿童中，可能与不良预后相关，并且可能代表ALL中一个独特的、尽管罕见的细胞遗传学亚组。
