检查 用于确定免疫球蛋白重链 (IgVH) 突变状态和其他基因突变(例如 TP53),以辅助预后和治疗决策。[23]National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: chronic lymphocytic leukemia/small lymphocytic lymphoma. Oct 2017 [internet publication].https://www.nccn.org/professionals/physician_gls/pdf/cll.pdf[1]Swerdlow SH, Campo E, Pileri SA, et al. The 2016 revision of the World Health Organization classification of lymphoid neoplasms. Blood. 2016 May 19;127(20):2375-90.http://www.bloodjournal.org/content/127/20/2375.longhttp://www.ncbi.nlm.nih.gov/pubmed/26980727?tool=bestpractice.com
有 TP53 突变的患者预后特别差。[9]Zenz T, Eichhorst B, Busch R, et al. TP53 mutation and survival in chronic lymphocytic leukemia. J Clin Oncol. 2010 Oct 10;28(29):4473-9.http://www.ncbi.nlm.nih.gov/pubmed/20697090?tool=bestpractice.com 此外,这些患者对标准化疗方案耐药。携带突变 IgVH 的患者预后良好并且对化疗有良好反应。[25]Thompson PA, Tam CS, O'Brien SM, et al. Fludarabine, cyclophosphamide, and rituximab treatment achieves long-term disease-free survival in IGHV-mutated chronic lymphocytic leukemia. Blood. 2016 Jan 21;127(3):303-9.http://www.bloodjournal.org/content/127/3/303.longhttp://www.ncbi.nlm.nih.gov/pubmed/26492934?tool=bestpractice.com[26]Rossi D, Terzi-di-Bergamo L, De Paoli L, et al. Molecular prediction of durable remission after first-line fludarabine-cyclophosphamide-rituximab in chronic lymphocytic leukemia. Blood. 2015 Oct 15;126(16):1921-4.http://www.bloodjournal.org/content/126/16/1921.longhttp://www.ncbi.nlm.nih.gov/pubmed/26276669?tool=bestpractice.com[27]Fischer K, Bahlo J, Fink AM, et al. Long-term remissions after FCR chemoimmunotherapy in previously untreated patients with CLL: updated results of the CLL8 trial. Blood. 2016 Jan 14;127(2):208-15.http://www.bloodjournal.org/content/127/2/208.longhttp://www.ncbi.nlm.nih.gov/pubmed/26486789?tool=bestpractice.com
其他可能具有临床相关性的突变包括 NOTCH1、SF3B1、ATM 和 BIRC3;但是,它们在指导 CLL 管理方面的作用需要进一步调查。[1]Swerdlow SH, Campo E, Pileri SA, et al. The 2016 revision of the World Health Organization classification of lymphoid neoplasms. Blood. 2016 May 19;127(20):2375-90.http://www.bloodjournal.org/content/127/20/2375.longhttp://www.ncbi.nlm.nih.gov/pubmed/26980727?tool=bestpractice.com[11]Eichhorst B, Robak T, Montserrat E, et al.; ESMO Guidelines Committee. Chronic lymphocytic leukemia: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2015;26(suppl 5):v78-v84.http://annonc.oxfordjournals.org/content/26/suppl_5/v78.full.pdf+htmlhttp://www.ncbi.nlm.nih.gov/pubmed/26314781?tool=bestpractice.com[24]Rossi D, Gaidano G. The clinical implications of gene mutations in chronic lymphocytic leukaemia. Br J Cancer. 2016 Apr 12;114(8):849-54.https://www.nature.com/articles/bjc201678http://www.ncbi.nlm.nih.gov/pubmed/27031852?tool=bestpractice.com