Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Department of Internal Medicine, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
Am J Hematol. 2022 Aug;97(8):1005-1012. doi: 10.1002/ajh.26595. Epub 2022 May 30.
Long-term follow up of prospective studies has shown that continuous Bruton's tyrosine kinase inhibitor (BTKi) therapy leads to durable remissions in previously untreated patients with TP53-altered chronic lymphocytic leukemia (CLL); however, it is unknown how variant allele frequency (VAF) of TP53 mutation (TP53-m) or percentage of cells with deletion of chromosome 17p [del(17p)] influences efficacy of firstline BTKi. We performed a retrospective analysis of 130 patients with CLL with baseline del(17p) and/or TP53-m treated with BTKi with or without the BCL2 inhibitor venetoclax (VEN) and with or without CD20 antibody in the firstline setting. A total of 104/130 (80%) patients had del(17p). TP53-m was noted in 89/110 (81%) patients tested; there were 101 unique TP53-m with an available VAF. The 4-year progression-free survival (PFS) and overall survival (OS) rates were 72.9% and 83.6%. No baseline characteristics including IGHV mutation status and number of TP53 alterations were associated with significant differences in PFS or OS, though a trend toward shorter PFS with increasing karyotypic complexity (hazard ratio 1.08, p = .066) was observed. Del(17p) was identified in <25% of cells in 26/104 (25%) of patients, and 28/101 (28%) of TP53-m were low-burden with a VAF of <10%; outcomes of these patients were similar to those with high-burden lesions. This study suggests that low-burden TP53 alterations should not be ignored when assessing genomic risk in CLL in the era of targeted therapy.
前瞻性研究的长期随访表明,对于未经治疗的 TP53 改变的慢性淋巴细胞白血病(CLL)患者,持续的 Bruton 酪氨酸激酶抑制剂(BTKi)治疗可导致持久缓解;然而,尚不清楚 TP53 突变(TP53-m)的变异等位基因频率(VAF)或 17p 染色体缺失[del(17p)]的细胞百分比如何影响一线 BTKi 的疗效。我们对 130 例基线时存在 del(17p)和/或 TP53-m 的 CLL 患者进行了回顾性分析,这些患者在一线治疗中接受了 BTKi 治疗,联合或不联合 BCL2 抑制剂 venetoclax(VEN),联合或不联合 CD20 抗体。共有 130 例患者中的 104 例(80%)存在 del(17p)。在 110 例接受检测的患者中,TP53-m 见于 89 例(81%);共有 101 个独特的 TP53-m,其中有可用的 VAF。4 年无进展生存率(PFS)和总生存率(OS)分别为 72.9%和 83.6%。尽管观察到核型复杂性增加与 PFS 缩短呈趋势(风险比 1.08,p =.066),但包括 IGHV 突变状态和 TP53 改变数量在内的基线特征与 PFS 或 OS 无显著差异。在 104 例患者中,有 26 例(25%)患者的 del(17p)细胞占比<25%,101 例 TP53-m 中有 28 例(28%)为低负担,VAF<10%;这些患者的结局与高负担病变患者相似。这项研究表明,在靶向治疗时代,评估 CLL 中的基因组风险时,不应忽视低负担的 TP53 改变。