SMARCA4-deficient uterine tumors in young women: response to immune checkpoint inhibitors.

IF 0.5 Q4 ONCOLOGY International Cancer Conference Journal Pub Date : 2024-09-17 eCollection Date: 2024-10-01 DOI:10.1007/s13691-024-00721-2

Riku Suzui, Mana Taki, Sachiko Kitamura, Masumi Sunada, Koji Yamanoi, Ryusuke Murakami, Ken Yamaguchi, Junzo Hamanishi, Sachiko Minamiguchi, Masaki Mandai

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Abstract

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 (Case 1) and undifferentiated endometrial carcinoma without SMARCA4 nuclear expression (Case 2). Using comprehensive genome profiling, we found that both cases had SMARCA4 mutations, with tumor mutation burdens of 0 and 68 Muts/Mb, respectively. Case 1 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.

Supplementary information: The online version contains supplementary material available at 10.1007/s13691-024-00721-2.

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年轻女性SMARCA4缺陷子宫肿瘤：对免疫检查点抑制剂的反应。

据报道，SMARCA4缺陷肿瘤存在于多种器官，且预后较差。SMARCA4缺陷型未分化子宫肉瘤（SDUS）于2018年首次被描述。相反，通过免疫染色观察到的SMARCA4（BRG1）表达缺失也出现在多例未分化子宫内膜癌中。SDUS与未分化子宫内膜癌在形态上有相当多的重叠，而在临床病理特征上却存在差异。在此，我们介绍了两例20多岁患者的SMARCA4缺失性子宫肿瘤：SDUS（病例 1）和无 SMARCA4 核表达的未分化子宫内膜癌（病例 2）。通过全面的基因组图谱分析，我们发现这两个病例都有 SMARCA4 突变，肿瘤突变负荷分别为 0 和 68 Muts/Mb。病例 1 在术后 9 个月出现多发性肺转移。我们对患者进行了免疫检查点抑制剂（pembrolizumab）和多激酶抑制剂（lenvatinib）联合治疗，治疗反应稳定。该研究首次报道了SDUS患者对免疫检查点抑制剂和多激酶抑制剂的反应：在线版包含补充材料，可在10.1007/s13691-024-00721-2上查阅。

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International Cancer Conference Journal ONCOLOGY-

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14.30%

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期刊介绍： This online-only journal publishes original case reports on all types of cancer. In particular, we welcome not only case reports of educational value in the diagnosis and treatment of cancers, but also reports on molecularly analyzed cancer cases, including gene mutations, gene fusions, gene expression, and changes in copy number, regardless of their known clinical significance. Assessing the molecular analysis of a tumor usually requires a “cancer conference” in which experts from various fields discuss it. Even if the authors and their respective “cancer conference” were unable to determine the clinical significance of molecular changes at the time of submission and publication, their data may provide evidence that will help the scientific community develop precision medicine solutions in the future. We welcome case reports with reviews of the literature on similar cases, as they are more useful and valuable to readers than are reports of rare cases. International Cancer Conference Journal is the official publication of the Japan Society of Clinical Oncology (JSCO). - Presents an online-only collection of original case reports on all types of cancer - In particular, welcomes molecularly analyzed cancer cases - The Official Publication of the Japan Society of Clinical Oncology (JSCO)