Department of Hematology, Institute of Hematology and Transfusion Medicine, Warsaw, Poland.
Cytogenetic Laboratory, Department of Diagnostic Hematology, Institute of Hematology and Transfusion Medicine, Warsaw, Poland
Pol Arch Intern Med. 2020 Jun 25;130(6):483-491. doi: 10.20452/pamw.15316. Epub 2020 Apr 27.
Prognosis of patients with newly diagnosed multiple myeloma (MM), a third most common hematological cancer, is dependent on baseline cytogenetics. However, little is known about the prognostic significance of cytogenetic evolution (CE) at the time between the diagnosis and relapse of MM.
Here, we retrospectively analyzed the prognostic impact of CE detected in a routine interphase fluorescence in situ hybridization (FISH) test in a cohort of patients with MM.
Among 650 patients evaluated with the FISH MM panel at our center between 2014 and 2019, we identified 29 individuals with MM who had been tested twice, at the time of diagnosis and relapse. Cytogenetic evolution was defined as the acquisition or loss of at least 1 cytogenetic abnormality at relapse (FISH2) compared with the baseline test result (FISH1).
Cytogenetic evolution was seen in 14 patients (48%), whereas 15 had stable cytogenetics. Acquired chromosome 17p deletion (del[17p]) was the most common type of CE, found in 7 patients (24%). In univariable analysis, stable cytogenetics predicted longer overall survival (median not reached vs 3.8 years; hazard ratio [HR], 0.15; P = 0.04; median follow‑up of 3.1 years) and longer overall survival after FISH2 (median not reached vs 0.8 years; HR, 0.13; P = 0.002; median follow‑up of 0.6 years). In multivariable analysis, acquired del(17p) predicted shorter progression‑free survival and the overall survival after FISH2 (HR, 9.3 and 18.8; P = 0.005 and P = 0.004, respectively).
Presence of CE and, particularly, the acquisition of new del(17p) at relapse, negatively affect the outcome of MM. Therefore, re‑evaluation of FISH at MM relapse should be included in routine clinical practice.
新诊断的多发性骨髓瘤（MM）是第三大常见血液系统恶性肿瘤，患者的预后取决于基线细胞遗传学。然而，人们对 MM 诊断与复发之间的细胞遗传学演变（CE）的预后意义知之甚少。
在此，我们回顾性分析了在本中心于 2014 年至 2019 年期间接受常规间期荧光原位杂交（FISH）检测的 MM 患者队列中 CE 的预后影响。
在我们中心接受 FISH MM 面板检测的 650 例患者中，我们确定了 29 例在诊断和复发时接受了两次检测的 MM 患者。与基线检测结果（FISH1）相比，复发时获得或丢失至少 1 种细胞遗传学异常定义为 CE（FISH2）。
14 例患者（48%）发生 CE，15 例患者细胞遗传学稳定。获得性 17p 染色体缺失（del[17p]）是最常见的 CE 类型，见于 7 例患者（24%）。在单变量分析中，细胞遗传学稳定预示着更长的总生存期（中位未达到 vs 3.8 年；危险比[HR]，0.15；P = 0.04；中位随访时间 3.1 年）和 FISH2 后更长的总生存期（中位未达到 vs 0.8 年；HR，0.13；P = 0.002；中位随访时间 0.6 年）。在多变量分析中，获得性 del（17p）预测无进展生存期和 FISH2 后总生存期更短（HR，9.3 和 18.8；P = 0.005 和 P = 0.004）。
CE 的存在，特别是在复发时获得新的 del（17p），对 MM 的预后产生负面影响。因此，应在常规临床实践中纳入 MM 复发时 FISH 的重新评估。
