Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
J Natl Cancer Inst. 2022 Nov 14;114(11):1545-1548. doi: 10.1093/jnci/djac119.
Low-stage, low-grade endometrioid endometrial carcinoma (EEC), the most common histologic type of endometrial cancer, typically has a favorable prognosis. A subset of these cancers, however, displays an aggressive clinical course with early recurrences, including distant relapses. All statistical tests were 2-sided. Using a combination of whole-exome and targeted capture sequencing of 65 FIGO stage IA and IB grade 1 EECs treated with surgery alone, we demonstrate that chromosome 1q gain (odds ratio [OR] = 8.09, 95% confidence interval [CI] = 1.59 to 54.6; P = .02), PIK3CA mutation (OR = 9.16, 95% CI = 1.95 to 61.8; P = .01), and DNA mismatch repair-deficient molecular subtype (OR = 7.92, 95% CI = 1.44 to 87.6; P = .02) are independent predictors of early recurrences within 3 years in this patient population. Chromosome 1q gain was validated in an independent dataset of stage I grade 1 EECs subjected to whole-exome sequencing. Our findings expand on the repertoire of genomic parameters that should be considered in the evaluation of patients with low-stage, low-grade EEC.
低分期、低分级子宫内膜样腺癌(EEC)是子宫内膜癌最常见的组织学类型,通常具有良好的预后。然而,这些癌症中的一部分具有侵袭性的临床病程,包括早期复发和远处转移。所有统计检验均为双侧检验。通过对 65 例接受单纯手术治疗的 FIGO 分期 IA 和 IB 级 1 型 EEC 患者进行全外显子组和靶向捕获测序的组合分析,我们证实染色体 1q 增益(优势比 [OR] = 8.09,95%置信区间 [CI] = 1.59 至 54.6;P =.02)、PIK3CA 突变(OR = 9.16,95% CI = 1.95 至 61.8;P =.01)和 DNA 错配修复缺陷分子亚型(OR = 7.92,95% CI = 1.44 至 87.6;P =.02)是该患者人群中 3 年内早期复发的独立预测因子。在接受全外显子组测序的 I 期 1 级 EEC 独立数据集上验证了染色体 1q 增益。我们的研究结果扩展了基因组参数的范围,这些参数在评估低分期、低分级 EEC 患者时应予以考虑。