Segges P, Braggio E, Minnicelli C, Hassan R, Zalcberg I R, Maiolino A
Centro de Transplante de Medula =ssea, Instituto Nacional de Câncer, RJ, Rio de Janeiro, Brasil.
Department of Hematology and Oncology, Mayo Clinic in Arizona, Scottsdale, AZ, USA.
Braz J Med Biol Res. 2016;49(5):e5034. doi: 10.1590/1414-431X20155034. Epub 2016 Apr 8.
Genetic abnormalities are critical prognostic factors for patients diagnosed with multiple myeloma (MM). This retrospective, multicenter study aimed to contribute with the genetic and clinical characterization of MM patients in a country with continental dimensions such as Brazil. Genetic abnormalities were assessed by cIg-fluorescent in situ hybridization (cIg-FISH) in a series of 152 MM patients (median age 55 years, 58.5% men). Overall, genetic abnormalities were detected in 52.7% (80/152) of patients. A 14q32 rearrangement was detected in 33.5% (n=51), including t(11;14), t(4;14) and t(14;16) in 18.4, 14.1, and 1% of cases, respectively. del(13q) was identified in 42.7% (n=65) of patients, of whom 49.2% (32/65) presented a concomitant 14q32 rearrangement. del(17p) had a frequency of 5.2% (n=8). del(13q) was associated with high plasma cell burden (≥50%, P=0.02), and del(17p) with advanced ISS stages (P=0.05) and extramedullary disease (P=0.03). t(4;14) was associated with advanced Durie-Salmon stages (P=0.008), renal insufficiency (P=0.01) and was more common in patients over 60 years old. This study reports similar frequencies of genetic abnormalities to most series worldwide, whereas the t(14;16) and del(17p), two high risk factors for newly diagnosed patients, exhibited lower frequencies. Our results expand the knowledge on the molecular features of MM in Brazil, a country where innovative therapies that could overcome a poor prognosis for some genetic abnormalities are not always available.
基因异常是诊断为多发性骨髓瘤（MM）患者的关键预后因素。这项回顾性多中心研究旨在对巴西这样幅员辽阔国家的MM患者进行基因和临床特征分析。通过细胞免疫荧光原位杂交（cIg-FISH）对152例MM患者（中位年龄55岁，男性占58.5%）进行基因异常评估。总体而言，52.7%（80/152）的患者检测到基因异常。14q32重排在33.5%（n = 51）的患者中被检测到，其中t(11;14)、t(4;14)和t(14;16)分别在18.4%、14.1%和1%的病例中出现。42.7%（n = 65）的患者检测到del(13q)，其中49.2%（32/65）同时存在14q32重排。del(17p)的发生率为5.2%（n = 8）。del(13q)与高浆细胞负荷（≥50%，P = 0.02）相关，del(17p)与国际分期系统（ISS）晚期（P = 0.05）和髓外疾病（P = 0.03）相关。t(4;14)与Durie-Salmon分期晚期（P = 0.008）、肾功能不全（P = 0.01）相关，且在60岁以上患者中更常见。本研究报告的基因异常频率与全球大多数系列相似，而新诊断患者的两个高危因素t(14;16)和del(17p)的频率较低。我们的结果扩展了对巴西MM分子特征的认识，在巴西，能够克服某些基因异常不良预后的创新疗法并不总是可用。
