Department of Medicine, University of California San Francisco, Fresno campus. Fresno, CA, United States.
Genomic Testing Cooperative, Irvine, CA, United States.
Cancer Treat Res Commun. 2021;27:100310. doi: 10.1016/j.ctarc.2021.100310. Epub 2021 Jan 30.
Primary central nervous system lymphoma (PCNSL) is a rare type of non-Hodgkin lymphoma. Previous studies have identified MYD88, CD79b and PIM1 as the most common genetic mutations in PCNSL. The extent to which mutations vary by ethnicity is unknown. The purpose of this study was to describe differences in genetic mutations and survival by Hispanic ethnicity in PCNSL.
30 patients with PCNSL were examined for mutations in 275 genes by DNA analysis and 1408 genes by RNA analysis utilizing next generation sequencing.
60% of patients were Hispanic. 125 different mutated genes were detected. The most commonly affected genes were: MYD88 (44%), CARD11 (21%), CD79b (17%), PIM1 (17%) and KMT2D (17%) . MYD88 mutation was less frequent in Hispanic patients (27% vs 66%, P=.02). More Hispanic patients had >3 mutated genes (89% vs 55 %. P=.03). Two-year progression-free survival (PFS) and overall survival (OS) in Hispanic vs. non-Hispanic patients (PFS 60% vs 27%, P=.09), (OS 60% vs 36%, P=.23). MYD88, CARD11, PIM1, and KMT2D were not associated with significant differences in OS or PFS. CD79b mutation correlated with superior 2-yr PFS (P=.04).
We identified highly recurrent genetic alterations in PCNSL. Our data suggest that heterogeneity in some mutations may be related to ethnicity. There was no statistically significant difference in 2-yr PFS and OS in our Hispanic patients. Studies on larger population may further help to describe differences in tumor biology, and outcomes in Hispanic patients.
原发性中枢神经系统淋巴瘤(PCNSL)是一种罕见的非霍奇金淋巴瘤。先前的研究已经确定 MYD88、CD79b 和 PIM1 是 PCNSL 中最常见的遗传突变。不同种族的突变程度尚不清楚。本研究的目的是描述 PCNSL 中西班牙裔患者的遗传突变和生存差异。
通过 DNA 分析和利用下一代测序对 1408 个基因进行 RNA 分析,对 30 例 PCNSL 患者进行了 275 个基因的突变检测。
60%的患者为西班牙裔。检测到 125 个不同的突变基因。受影响最常见的基因是:MYD88(44%)、CARD11(21%)、CD79b(17%)、PIM1(17%)和 KMT2D(17%)。MYD88 突变在西班牙裔患者中较少见(27%比 66%,P=0.02)。更多的西班牙裔患者有>3 个突变基因(89%比 55%,P=0.03)。西班牙裔与非西班牙裔患者的 2 年无进展生存率(PFS)和总生存率(OS)(PFS 60%比 27%,P=0.09),(OS 60%比 36%,P=0.23)无统计学差异。MYD88、CARD11、PIM1 和 KMT2D 与 OS 或 PFS 无显著相关性。CD79b 突变与 2 年 PFS 显著相关(P=0.04)。
我们在 PCNSL 中发现了高度复发的遗传改变。我们的数据表明,某些突变的异质性可能与种族有关。我们的西班牙裔患者 2 年 PFS 和 OS 无统计学差异。在更大的人群中进行的研究可能有助于进一步描述西班牙裔患者肿瘤生物学和结局的差异。