Utility of next generation sequencing to unequivocally establish clonality in synchronous vs metastatic endometrial and ovarian carcinomas

IF 1.2 Q3 OBSTETRICS & GYNECOLOGY

Gynecologic Oncology Reports Pub Date : 2024-10-02 DOI:10.1016/j.gore.2024.101524

Michelle Greenman , Stefania Bellone , Tobias Hartwich , Natalia Buza , Alessandro D. Santin

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Abstract

Background

Synchronous endometrial and ovarian carcinomas represent up to 10% of all endometrial and ovarian tumors. These are diagnostically challenging cases to determine if they represent dual primary tumors or related metastatic tumors.

Case

A 48-year-old was diagnosed with synchronous primary ovarian and endometrial malignancies on pathology based on traditional morphological parameters. However, following next generation sequencing (NGS) of tumors from both the uterus and ovary, the malignancies were unequivocally recognized as primary uterine tumor metastatic to the ovary using mismatch repair protein expression profile and tumor clonality.

Conclusion

NGS using FDA-approved commercially available platforms is becoming increasingly utilized to understand the genetic landscape of tumors and select the appropriate targeted therapies for improved outcomes. Simultaneous sequencing of synchronous endometrial and ovarian carcinomas may represent the new gold standard to unequivocally demonstrate tumor clonal relationships, properly classify disease as well as guide the most appropriate adjuvant treatment in these challenging cases.

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利用新一代测序技术明确确定同步性与转移性子宫内膜癌和卵巢癌的克隆性

背景同步性子宫内膜癌和卵巢癌占所有子宫内膜和卵巢肿瘤的 10%。病例一名 48 岁的患者根据传统的形态学参数被病理诊断为同步原发性卵巢和子宫内膜恶性肿瘤。然而，在对来自子宫和卵巢的肿瘤进行新一代测序（NGS）后，利用错配修复蛋白表达谱和肿瘤克隆性，这些恶性肿瘤被明确认定为转移至卵巢的原发性子宫肿瘤。同步子宫内膜癌和卵巢癌的同步测序可能代表着新的黄金标准，可明确显示肿瘤克隆关系、对疾病进行正确分类，并指导这些具有挑战性的病例进行最合适的辅助治疗。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Gynecologic Oncology Reports OBSTETRICS & GYNECOLOGY-

CiteScore

2.00

自引率

0.00%

发文量

183

审稿时长

41 days

期刊介绍： Gynecologic Oncology Reports is an online-only, open access journal devoted to the rapid publication of narrative review articles, survey articles, case reports, case series, letters to the editor regarding previously published manuscripts and other short communications in the field of gynecologic oncology. The journal will consider papers that concern tumors of the female reproductive tract, with originality, quality, and clarity the chief criteria of acceptance.