Wan T S K, Ma S K, Au W Y, Liu H S Y, Chan J C W, Chan L C
Division of Hematology, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, People's Republic of China.
Cancer Genet Cytogenet. 2003 Jan 15;140(2):170-3. doi: 10.1016/s0165-4608(02)00684-2.
We describe a case of acute promyelocytic leukemia (APL) with t(15;17)(q22;q12) and trisomy 21 as an additional change in a patient who died at relapse after achieving complete remission (CR) for the duration of 20 months. A survey of 42 cases of APL with cytogenetic study performed at our institutionover the past 10 years showed 12 cases (28.6%) having chromosomal changes in addition to t(15;17). Trisomy 8 and trisomy 21 as additional changes were noted in 4 and 2 cases, respectively, with one patient showing both trisomies simultaneously. Two cases showed t(15;17) in hyperdiploid clones. Among the 10 patients with follow-up data, all eventually relapsed and none achieved continuous complete remission 1. Survival analysis performed in APL patients with adequate follow-up data showed no significant difference in overall and disease free survival between those with and without additional cytogenetic changes. After excluding cases with one induction death, the overall survival was significantly in favor of the group without additional cytogenetic abnormalities (P = 0.022). Late relapses may therefore be significantly more common in APL patients with additional cytogenetic abnormalities, and may not be reflected by analysis focused at three-year survival only. As APL is now considered a curable disease, any confirmed long-term survival impact of additional cytogenetic changes is expected to have important management implications.
我们描述了一例急性早幼粒细胞白血病（APL）患者，其核型为t(15;17)(q22;q12)，并伴有21号染色体三体作为额外改变。该患者在达到完全缓解（CR）20个月后复发死亡。对我院过去10年进行细胞遗传学研究的42例APL病例进行调查显示，12例（28.6%）除t(15;17)外还存在染色体改变。分别有4例和2例额外改变为8号染色体三体和21号染色体三体，1例患者同时出现这两种三体。2例在超二倍体克隆中显示t(15;17)。在有随访数据的10例患者中，全部最终复发，无一例实现持续完全缓解。对有充分随访数据的APL患者进行生存分析显示，有额外细胞遗传学改变和无额外细胞遗传学改变的患者在总生存期和无病生存期方面无显著差异。排除1例诱导期死亡病例后，无额外细胞遗传学异常组的总生存期明显更优（P = 0.022）。因此，有额外细胞遗传学异常的APL患者晚期复发可能明显更常见，仅关注三年生存期的分析可能无法反映这一点。由于现在认为APL是一种可治愈的疾病，额外细胞遗传学改变对长期生存的任何已证实影响预计将对治疗管理具有重要意义。
