Suzui Riku, Taki Mana, Kitamura Sachiko, Sunada Masumi, Yamanoi Koji, Murakami Ryusuke, Yamaguchi Ken, Hamanishi Junzo, Minamiguchi Sachiko, Mandai Masaki
Department of Gynecology and Obstetrics, Kyoto University Graduate School of Medicine, 54 Shogoin Kawahara-Cho, Sakyo-Ku, Kyoto, 606-8507 Japan.
Department of Diagnostic Pathology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Int Cancer Conf J. 2024 Sep 17;13(4):515-519. doi: 10.1007/s13691-024-00721-2. eCollection 2024 Oct.
SMARCA4-deficient tumors have been reported in various organs and are associated with a poor prognosis. SMARCA4-deficient undifferentiated uterine sarcoma (SDUS) was first described in 2018. Conversely, loss of SMARCA4 (BRG1) expression, as observed by immunostaining, has been observed in several cases of undifferentiated endometrial carcinoma. SDUS has considerable morphologic overlap with undifferentiated endometrial carcinoma, while there are differences in their clinicopathological features. Here, we present two cases of SMARCA4-deficient uterine tumors in patients in their 20 s: SDUS () and undifferentiated endometrial carcinoma without SMARCA4 nuclear expression (). Using comprehensive genome profiling, we found that both cases had mutations, with tumor mutation burdens of 0 and 68 Muts/Mb, respectively. had multiple lung metastases 9 months after surgery. We treated the patients with combination of an immune checkpoint inhibitor (pembrolizumab) and a multikinase inhibitor (lenvatinib), and the response to the treatment was stable. This study presents the first report on the response to immune checkpoint inhibitor and multikinase inhibitor in SDUS.
The online version contains supplementary material available at 10.1007/s13691-024-00721-2.
已有报道称，SMARCA4缺陷型肿瘤存在于多个器官中，且与预后不良相关。SMARCA4缺陷型未分化子宫肉瘤（SDUS）于2018年首次被描述。相反，在几例未分化子宫内膜癌病例中，通过免疫染色观察到了SMARCA4（BRG1）表达缺失。SDUS与未分化子宫内膜癌在形态学上有相当大的重叠，但其临床病理特征存在差异。在此，我们报告两例20多岁患者的SMARCA4缺陷型子宫肿瘤病例：SDUS（）和无SMARCA4核表达的未分化子宫内膜癌（）。通过综合基因组分析，我们发现两例病例均有 突变，肿瘤突变负荷分别为0和68个突变/Mb。 在术后9个月出现了多处肺转移。我们用免疫检查点抑制剂（帕博利珠单抗）和多激酶抑制剂（乐伐替尼）联合治疗这两名患者，治疗反应稳定。本研究首次报道了SDUS对免疫检查点抑制剂和多激酶抑制剂的反应。
在线版本包含可在10.1007/s13691-024-00721-2获取的补充材料。
