ATM mutation in aggressive uterine adenosarcoma in which systemic chemotherapies had remarkable effects.

IF 0.5 Q4 ONCOLOGY
International Cancer Conference Journal Pub Date : 2023-01-12 eCollection Date: 2023-04-01 DOI:10.1007/s13691-022-00591-6
Misaki Koyama, Ken Yamaguchi, Yoshitsugu Chigusa, Koji Yamanoi, Mana Taki, Masumi Sunada, Akihito Horie, Junzo Hamanishi, Sachiko Minamiguchi, Masaki Mandai
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引用次数: 0

Abstract

Uterine adenosarcoma is a rare gynecologic malignancy, and 10-25% of the cases exhibit clinically aggressive behaviors. Although TP53 mutations are frequently identified in high-grade adenosarcomas of the uterus, definitive gene alterations have not been identified in uterine adenosarcomas. Specifically, no reports have described mutations in homologous recombination deficiency-related genes in uterine adenosarcomas. This study presents a case of uterine adenosarcoma without sarcomatous overgrowth but with TP53 mutation that exhibited clinically aggressive behaviors. The patient had an ATM mutation, which is a gene associated with homologous recombination deficiency, and exhibited a good response against platinum-based chemotherapy and possible therapeutic target by poly(ADP-ribose) polymerase inhibitors.

全身化疗效果显著的侵袭性子宫腺肉瘤中的 ATM 突变。
子宫腺肉瘤是一种罕见的妇科恶性肿瘤,10%-25%的病例具有临床侵袭性。虽然在子宫高级别腺肉瘤中经常发现 TP53 突变,但在子宫腺肉瘤中尚未发现明确的基因改变。特别是,还没有报告描述子宫腺肉瘤中存在同源重组缺陷相关基因的突变。本研究介绍了一例无肉瘤过度生长但有TP53突变的子宫腺肉瘤,临床表现为侵袭性行为。该患者有一个与同源重组缺陷相关的基因ATM突变,对铂类化疗反应良好,并可能是多(ADP-核糖)聚合酶抑制剂的治疗靶点。
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来源期刊
自引率
14.30%
发文量
57
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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