Abstract
Endometrial stromal tumors (ESTs) include endometrial stromal nodule (ESN), low-grade endometrial stromal sarcoma (LG-ESS), high-grade endometrial stromal sarcoma (HG-ESS), and undifferentiated uterine sarcoma (UUS). Since these are rare tumor types, there is an unmet clinical need for the systematic therapy of advanced LG-ESS or HG-ESS. Cytogenetic and molecular advances in ESTs have shown that multiple recurrent gene fusions are present in a large proportion of LG-ESSs, and HG-ESSs are identified by the tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon (YWHAE)-family with sequence similarity 22 (FAM22) fusion. Recently, a group of ESSs harboring both zinc finger CCCH domain-containing protein 7B (ZC3H7B)-B-cell lymphoma 6 corepressor (BCOR) fusion and internal tandem duplication (ITD) of the BCOR gene have been provisionally classified as HG-ESSs. In this review, we firstly describe current knowledge about the molecular characteristics of recurrent aberrant proteins and their roles in the tumorigenesis of LG-ESSs and HG-ESSs. Next, we summarize the possibly shared signal pathways in the tumorigenesis of LG-ESSs and HG-ESSs, and list potentially actionable targets. Finally, based on the above discussion, we propose a few promising therapeutic strategies for LG-ESSs and HG-ESSs with recurrent gene alterations.
概要
子宫内膜间质肿瘤(EST)是一组较为少见的肿瘤,包括子宫内膜间质结节(ESN)、低级别子宫内膜间质肉瘤(LG-ESS)、高级别子宫内膜间质肉瘤(HG-ESS)和未分化子宫肉瘤(UUS),其中进展期LG-ESS、HG-ESS和UUS缺少有效的全身治疗。细胞遗传学和分子生物学研究发现,多数LG-ESS和所有HG-ESS携带再现性基因改变。本文重点描述了LG-ESS和HG-ESS中已知的再现性基因改变和相应的分子改变及其在肿瘤发生发展中的作用,总结了不同分子改变可能共享的信号途径及可作用的靶点,并提出针对可作用靶点、用于LG-ESS和HG-ESS全身治疗的策略
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This work was supported by the WU JIEPING MEDICAL FOUNDATION (No. 320.6750.18489), China.
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Chunhong WANG conducted this review. Chunhong WANG and Chunhui LI contributed to the writing and editing of the manuscript. Both authors have read and approved the final manuscript and, therefore, have full access to all the data in the study and take responsibility for the integrity and security of the data.
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Chunhui LI and Chunhong WANG declare that they have no conflict of interest.
This article does not contain any studies with human or animal subjects performed by either of the authors.
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Li, C., Wang, C. LG-ESSs and HG-ESSs: underlying molecular alterations and potential therapeutic strategies. J. Zhejiang Univ. Sci. B 22, 633–646 (2021). https://doi.org/10.1631/jzus.B2000797
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DOI: https://doi.org/10.1631/jzus.B2000797
Key words
- Low-grade endometrial stromal sarcoma (LG-ESS)
- High-grade endometrial stromal sarcoma (HG-ESS)
- Molecular genetics
- Therapeutics