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This chapter reviews the primary molecular subgroups of endometrial carcinoma: somatic copy-number alteration low or nonspecific molecular profiler (CNL or NSMP), somatic copy-number high or p53 abnormal (CNH or p53abn), microsatellite instability hypermutated or mismatch repair deficiency (MSI-H or MMRd), and POLE ultramutated (POLEmut). It delves into the clinicopathologic features of each group, explaining their impact on the International Federation of Gynecology and Obstetrics (FIGO) 2023 staging and treatment plans. Testing modalities and common pitfalls are highlighted. Additionally, the chapter explores the rare “multiple classifier” group as well as uncommon tumor types which currently reside in the NSMP group but merit individual consideration. The practical and cost-effective implementation of this knowledge, along with areas of uncertainty, is also addressed.

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Molecular Classification of Endometrial Carcinoma and Its Clinical Application

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  • 发表日期：

    2025年

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  • Anne Mills,
  • Eyas Alzayadneh,
  • Wenxin Zheng

摘要

This chapter reviews the primary molecular subgroups of endometrial carcinoma: somatic copy-number alteration low or nonspecific molecular profiler (CNL or NSMP), somatic copy-number high or p53 abnormal (CNH or p53abn), microsatellite instability hypermutated or mismatch repair deficiency (MSI-H or MMRd), and POLE ultramutated (POLEmut). It delves into the clinicopathologic features of each group, explaining their impact on the International Federation of Gynecology and Obstetrics (FIGO) 2023 staging and treatment plans. Testing modalities and common pitfalls are highlighted. Additionally, the chapter explores the rare “multiple classifier” group as well as uncommon tumor types which currently reside in the NSMP group but merit individual consideration. The practical and cost-effective implementation of this knowledge, along with areas of uncertainty, is also addressed.