Department of Medical Oncology, National Cancer Center Hospital, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan.
Course of Advanced Clinical Research of Cancer, Juntendo University Graduate School of Medicine, 3-1-3 Hongoh, Bunkyo-ku, Tokyo, 113-0033, Japan.
BMC Cancer. 2021 Oct 21;21(1):1131. doi: 10.1186/s12885-021-08869-3.
The V-Akt murine thymoma viral oncogene (AKT) 1 (E17K) is a subfamily of serine/threonine protein kinases that affects the survival, proliferation, and invasion of cancer cells. The clinicopathological features and frequencies in Asian populations with AKT1 mutations in breast and endometrial cancers are unclear. Hence, we aimed to determine the frequencies and relationships between clinicopathological features and AKT1 mutations in Asian women with cancer.
We extracted DNA from 311 and 143 samples derived from patients with breast and endometrial cancers to detect the AKT1 point mutation (hotspot), E17K. We examined correlations between clinicopathological features and AKT1 mutation status.
The frequency of AKT1 mutations in breast cancer was 7.4%, and they were found more frequently in human epidermal growth factor receptor 2 (HER2)-negative breast cancer subtypes, although this was not statistically significant (P = 0.08). The frequency of AKT1 mutations in endometrial cancer was 4.1%, and the mutations were histologically detected only in endometrioid types. However, AKT1 mutations did not correlate with relapse-free or overall survival of patients with breast or endometrial cancer.
AKT1 mutations are associated with HER2-negative subtype in breast cancer and in endometrial cancer with endometrioid histology. The frequencies of AKT1 mutations in breast and endometrial cancers were similar between Asian and other regional women. The frequency of mutations is too low in both tumor types to talk about predictive significance.
V-Akt 鼠胸腺瘤病毒癌基因 1（AKT1）（E17K）是丝氨酸/苏氨酸蛋白激酶亚家族，影响癌细胞的存活、增殖和侵袭。亚洲人群乳腺癌和子宫内膜癌中 AKT1 突变的临床病理特征和频率尚不清楚。因此，我们旨在确定亚洲女性癌症患者中 AKT1 突变的频率及其与临床病理特征的关系。
我们从 311 例和 143 例乳腺癌及子宫内膜癌患者的样本中提取 DNA，以检测 AKT1 点突变（热点）E17K。我们检查了临床病理特征与 AKT1 突变状态之间的相关性。
乳腺癌中 AKT1 突变的频率为 7.4%，在人表皮生长因子受体 2（HER2）阴性的乳腺癌亚型中更为常见，尽管这没有统计学意义（P=0.08）。子宫内膜癌中 AKT1 突变的频率为 4.1%，突变仅在子宫内膜样型中组织学上检测到。然而，AKT1 突变与乳腺癌或子宫内膜癌患者的无复发生存或总生存无关。
AKT1 突变与乳腺癌的 HER2 阴性亚型和子宫内膜癌的子宫内膜样组织学相关。亚洲和其他地区女性乳腺癌和子宫内膜癌中 AKT1 突变的频率相似。两种肿瘤类型的突变频率都太低，无法谈论预测意义。
