Shin Sang-Yong, Eom Hyeon-Seok, Sohn Ji Yeon, Lee Hyewon, Park Boram, Joo Jungnam, Jang Ja-Hyun, Lee Mi-Na, Kim Jung Kwon, Kong Sun-Young
Department of Laboratory Medicine, Center for Diagnostic Oncology and Translational Epidemiology Research Branch, Hospital and Research Institute, National Cancer Center, Goyang, Korea.
Department of Hematology-Oncology, Center for Hematologic Malignancy, National Cancer Center, Goyang, Korea; Department of System Cancer Science, Graduate School of Cancer Science and Policy, National Cancer Center, Goyang, Korea.
Clin Lymphoma Myeloma Leuk. 2017 Mar;17(3):159-164.e2. doi: 10.1016/j.clml.2016.12.001. Epub 2016 Dec 26.
Cytogenetic analysis aides in risk stratification for patients with multiple myeloma (MM). Although several cytogenetic aberrations have been reported to be prognostic, less is known about the association between the presence of monosomies and prognosis. The present study evaluated the prevalence and prognostic implications of monosomies in patients with MM.
Karyotypes were determined using conventional cytogenetics and fluorescence in situ hybridization (FISH). The prognostic effect of monosomies was evaluated by comparison with the clinical factors in MM patients with normal karyotypes.
Karyotypes were successfully determined in 167 of the 170 patients with MM. Of these 167 patients, 52 (31.1%) had abnormal karyotypes. Univariable analyses showed that a normal karyotype, hypodiploidy, monosomies of chromosomes 13 and 16, deletion or monosomy of 13q14, and loss of X detected by metaphase analysis were each associated with reduced progression-free survival (P < .05 for each). Univariable analyses showed that a normal karyotype, hypodiploidy, monosomies of chromosomes 13 and 16, deletion or monosomy of 13q14 detected by metaphase analysis and FISH-determined RB1 (13q)/TP53 (17p) deletion were each associated with reduced overall survival (P < .05 for each). Multivariable analysis showed that hypodiploidy detected by metaphase analysis was independently prognostic of shorter progression-free survival (P < .05 for each) and that hypodiploidy, monosomy 16, and loss of Y chromosome and FISH-determined TP53 (17p) deletion were associated with reduced overall survival (P < .05 for each).
In addition to known cytogenetic abnormalities, such as monosomy 13, hypodiploidy, and TP53 (17p) deletion, monosomy 16 and loss of the Y chromosome have adverse prognostic implications in patients with MM.
细胞遗传学分析有助于对多发性骨髓瘤(MM)患者进行风险分层。尽管已有多种细胞遗传学异常被报道具有预后价值,但关于单体存在与预后之间的关联了解较少。本研究评估了MM患者中单体的发生率及其预后意义。
采用传统细胞遗传学和荧光原位杂交(FISH)技术确定核型。通过与核型正常的MM患者的临床因素进行比较,评估单体的预后作用。
170例MM患者中有167例成功确定了核型。在这167例患者中,52例(31.1%)核型异常。单因素分析显示,核型正常、亚二倍体、13号和16号染色体单体、13q14缺失或单体以及中期分析检测到的X染色体缺失均与无进展生存期缩短相关(每项P <.05)。单因素分析显示,核型正常、亚二倍体、13号和16号染色体单体、中期分析和FISH检测确定的13q14缺失或单体以及RB1(13q)/TP53(17p)缺失均与总生存期缩短相关(每项P <.05)。多因素分析显示,中期分析检测到的亚二倍体是无进展生存期缩短的独立预后因素(每项P <.05),亚二倍体、16号单体、Y染色体缺失以及FISH检测确定的TP53(17p)缺失与总生存期缩短相关(每项P <.05)。
除了已知的细胞遗传学异常,如13号染色体单体、亚二倍体和TP53(17p)缺失外,16号染色体单体和Y染色体缺失对MM患者具有不良预后意义。