Legües María Eugenia, Morales Paulina, Valenzuela Mercedes, Encina Andrea, Martí María José, Bascuñán Claudia, Cornejo Paulina, Peña Camila, Undurraga María Soledad
Laboratorio de Citogenética, Sección Hematología, Hospital del Salvador, Santiago, Chile.
Unidad de Hematología Clínica, Hospital del Salvador, Santiago, Chile.
Rev Med Chil. 2019;147(1):61-64. doi: 10.4067/S0034-98872019000100061.
Cytogenetic abnormalities observed in the bone marrow of patients with multiple myeloma (MM) are an important prognostic factor for risk stratification.
To investigate karyotype characteristics and frequency of the high-risk cytogenetic abnormalities t(4;14), t(14;16) and del(17p) in Chilean patients with MM.
We studied 30 patients with MM by conventional cytogenetics (CC) and fluorescent in situ hybridization of plasma cells selected using cytoplasmic immunoglobulin staining (cIg-FISH).
Overall, the two techniques in combination allowed us to identify clonal genetic abnormalities in 47% of patients. The t(4;14) abnormality was observed in 19% of patients, del(17p) was observed in 10% of patients, and t(14;16) was not detected.
Our results showed frequencies of high-risk abnormalities similar to those reported abroad. Cytogenetic studies should be performed routinely for all MM patients at the moment of diagnosis.
在多发性骨髓瘤（MM）患者骨髓中观察到的细胞遗传学异常是风险分层的重要预后因素。
研究智利MM患者中高危细胞遗传学异常t(4;14)、t(14;16)和del(17p)的核型特征及频率。
我们通过传统细胞遗传学（CC）和使用细胞质免疫球蛋白染色选择的浆细胞荧光原位杂交（cIg-FISH）对30例MM患者进行了研究。
总体而言，两种技术相结合使我们能够在47%的患者中识别出克隆性遗传异常。19%的患者观察到t(4;14)异常，10%的患者观察到del(17p)，未检测到t(14;16)。
我们的结果显示高危异常的频率与国外报道的相似。在诊断时，应为所有MM患者常规进行细胞遗传学研究。
