Riku Suzui, Mana Taki, Sachiko Kitamura, Masumi Sunada, Koji Yamanoi, Ryusuke Murakami, Ken Yamaguchi, Junzo Hamanishi, Sachiko Minamiguchi, Masaki Mandai
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Using comprehensive genome profiling, we found that both cases had <i>SMARCA4</i> mutations, with tumor mutation burdens of 0 and 68 Muts/Mb, respectively. <i>Case 1</i> 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.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s13691-024-00721-2.</p>","PeriodicalId":13703,"journal":{"name":"International Cancer Conference Journal","volume":null,"pages":null},"PeriodicalIF":0.5000,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11465112/pdf/","citationCount":"0","resultStr":"{\"title\":\"SMARCA4-deficient uterine tumors in young women: response to immune checkpoint inhibitors.\",\"authors\":\"Riku Suzui, Mana Taki, Sachiko Kitamura, Masumi Sunada, Koji Yamanoi, Ryusuke Murakami, Ken Yamaguchi, Junzo Hamanishi, Sachiko Minamiguchi, Masaki Mandai\",\"doi\":\"10.1007/s13691-024-00721-2\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>SMARCA4-deficient tumors have been reported in various organs and are associated with a poor prognosis. 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SMARCA4-deficient uterine tumors in young women: response to immune checkpoint inhibitors.
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.
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)
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