文章：

染色体13异常的预后意义及新诊断多发性骨髓瘤中多种细胞遗传学高危异常的存在

Prognostic implications of abnormalities of chromosome 13 and the presence of multiple cytogenetic high-risk abnormalities in newly diagnosed multiple myeloma

原文发布日期：2017-09-01

DOI: 10.1038/bcj.2017.83

类型: Original Article

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英文摘要：

Fluorescence in situ hybridization evaluation is essential for initial risk stratification in multiple myeloma. While the presence of specific cytogenetic high-risk abnormalities (HRA) is known to confer a poor prognosis, less is known about the cumulative effect of multiple HRA. We studied 1181 patients with newly diagnosed multiple myeloma who received novel agents as first-line therapy. High-risk abnormalities were defined as t(4;14), t(14;16), t(14;20) and del(17p). There were 884 patients (75%) without any HRA and 297 patients (25%) with HRA, including 262 (22%) with one HRA and 35 (3%) with two HRA. The presence of one HRA (versus zero, hazard ratio (HR) 1.65, 95% confidence interval (CI) 1.32–2.05, p<0.001) and the presence of two HRA (versus zero, HR 3.15, 95% CI 2.00–4.96, p<0.001) were of prognostic significance after adjusting for other prognostic factors. Abnormalities of chromosome 13 were of prognostic significance independent of the established HRA: Monosomy 13 (HR 1.27, 95% CI 1.04–1.56, P=0.022) and del(13q) (HR 0.48, 95% CI 0.28–0.81, P=0.006) with opposite effects. Patients with HRA experienced worse overall survival suggesting a cumulative adverse effect of multiple HRA. Abnormalities of chromosome 13 were of prognostic significance after adjusting for other prognostic factors.

摘要翻译： 

荧光原位杂交评估对多发性骨髓瘤的初始风险分层至关重要。虽然已知特定细胞遗传学高危异常的存在预示不良预后，但关于多重高危异常累积效应的研究较少。我们研究了1181例接受新药作为一线治疗的新诊断多发性骨髓瘤患者。高危异常定义为t(4;14)、t(14;16)、t(14;20)和del(17p)。884例患者（75%）未携带任何高危异常，297例（25%）携带高危异常，其中262例（22%）携带一种高危异常，35例（3%）携带两种高危异常。经其他预后因素校正后，携带一种高危异常（相较于零种，风险比1.65，95%置信区间1.32-2.05，p<0.001）与携带两种高危异常（相较于零种，风险比3.15，95%置信区间2.00-4.96，p<0.001）均具有预后意义。13号染色体异常在调整既定高危异常后仍显示独立预后价值：13号染色体单体（风险比1.27，95%置信区间1.04-1.56，P=0.022）与13q缺失（风险比0.48，95%置信区间0.28-0.81，P=0.006）呈现相反效应。携带高危异常患者总生存期更差，提示多重高危异常存在累积负面效应。在调整其他预后因素后，13号染色体异常仍具有预后意义。

原文链接：

Prognostic implications of abnormalities of chromosome 13 and the presence of multiple cytogenetic high-risk abnormalities in newly diagnosed multiple myeloma