一例粘液性边界卵巢肿瘤病例报告，复发为高拷贝数改变的浸润性癌。

IF 0.5 Q4 ONCOLOGY International Cancer Conference Journal Pub Date : 2024-09-17 eCollection Date: 2024-10-01 DOI:10.1007/s13691-024-00722-1

Emi Wakazono, Mana Taki, Koichi Watanabe, Koji Yamanoi, Ryusuke Murakami, Nobuyuki Kakiuchi, Ken Yamaguchi, Junzo Hamanishi, Sachiko Minamiguchi, Seishi Ogawa, Masaki Mandai

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摘要

粘液性边界卵巢肿瘤（MBOTs）复发率极低，预后良好，尤其是在早期阶段，但有些MBOTs偶尔会复发并进展为粘液性卵巢癌（MOCs）。在此，我们介绍一例在 3 年内复发为浸润性 MOC 的 MBOT。为了研究MBOT发展为MOC的原因，我们对病例进行了全外显子组测序，发现MBOT和复发的MOC中KRAS、CDKN2A和TP53的突变和拷贝数改变相同。与原发性 MBOT 相比，复发性 MOC 的拷贝数改变量更大。这些发现表明，MBOT 可能是通过复发发展为 MOC 的，而拷贝数改变负担的增加可能是其主要驱动因素。还有人认为，MBOT中已经存在的TP53突变可能是导致MOC的拷贝数改变增加的原因：在线版本包含补充材料，可在10.1007/s13691-024-00722-1上获取。

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A case report of mucinous borderline ovarian tumor with recurrence as invasive carcinoma with high copy number alterations.

Mucinous borderline ovarian tumors (MBOTs) have a very low recurrence rate and a good prognosis, especially in the early stages, but some MBOTs occasionally recur with the progression to mucinous ovarian carcinomas (MOCs). Here, we present a case of MBOT that recurred as invasive MOC within 3 years. To examine the reason for the progression from MBOT to MOC, whole-exome sequencing of our case identified identical mutations and copy number alterations in KRAS, CDKN2A, and TP53 in both the MBOT and recurrent MOC. The recurrent MOC had a greater copy number alteration burden compared to the primary MBOT. These findings suggest that MBOT may have progressed to MOC via recurrence, wherein the increased burden of copy number alterations could be its key driver. It was also suggested that TP53 mutations already present in MBOT may contribute to the increased copy number alterations leading to MOC.

Supplementary information: The online version contains supplementary material available at 10.1007/s13691-024-00722-1.

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来源期刊

International Cancer Conference Journal ONCOLOGY-

自引率

14.30%

发文量

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)