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子宫内膜癌的基因组分析及其与子宫内膜癌疾病扩散范围的关系。

Genomic profiling of endometrial cancer and relationship with volume of endometrial cancer disease spread.

作者信息

Sullivan Stephanie A, Hawkins Gabriel, Zhao Xiobai, Jo Heejoon, Hayes Neil, Deng Xiaoyan, Bandyopadhyay Dipankar, Bae-Jump Victoria L, Rossi Emma C

机构信息

University of North Carolina at Chapel Hill, United States.

Department of Obstetrics and Gynecology, United States.

出版信息

Gynecol Oncol Rep. 2021 Feb 9;36:100720. doi: 10.1016/j.gore.2021.100720. eCollection 2021 May.

DOI:10.1016/j.gore.2021.100720
PMID:33732849
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7940789/
Abstract

OBJECTIVES

Lymph node (LN) metastasis and genomic profiles are important prognostic factors in endometrial cancer (EMCA). However, the prognostic significance of low volume metastasis found in sentinel lymph nodes (SLN) is unknown. We sought to determine if genomic mutations were associated with metastatic volume.

METHODS

Surgically staged women with EC who were enrolled in both a SLN clinical trial and tumor sequencing protocol were eligible. Relevant targets were enriched by a custom designed Agilent SureSelect hybrid capture enrichment library using standard protocols. Three specific gene mutations were evaluated, in the primary tumor of patients with LN negative, LN positive and ITC disease.

RESULTS

42 patients were eligible; of these, 7 (16.7%) had ITC only and 7 (16.7%) had micrometastatic or macrometastatic (LN positive) disease. No differences were seen in TP53, between groups. All ITC patients with mutations were of non-endometrioid histology (2/7). Deeper myometrial invasion and lymph vascular space invasion were more likely to occur in the LN positive group (p < 0.01 for both). No patients with ITC had a recurrence in a median 67.7 months of follow-up since surgery.

CONCLUSIONS

This pilot investigation did not identify differences between frequency of mutations in tumors and volume of LN metastasis. Low number of ITC limited the ability to detect genomic differences, however mutations appeared to align with expected histology. More work is needed to define the relationship between genomic mutations, histology, ITC, and prognosis.

摘要

目的

淋巴结(LN)转移和基因组特征是子宫内膜癌(EMCA)重要的预后因素。然而,前哨淋巴结(SLN)中发现的低容量转移的预后意义尚不清楚。我们试图确定基因组突变是否与转移体积相关。

方法

纳入参加SLN临床试验和肿瘤测序方案的接受手术分期的EC女性患者。使用标准方案,通过定制设计的安捷伦SureSelect杂交捕获富集文库富集相关靶点。评估了LN阴性、LN阳性和ITC疾病患者原发肿瘤中的三种特定基因突变。

结果

42例患者符合条件;其中,7例(16.7%)仅有ITC,7例(16.7%)有微转移或大转移(LN阳性)疾病。各组间TP53无差异。所有有突变的ITC患者均为非子宫内膜样组织学类型(2/7)。LN阳性组更易发生肌层浸润加深和淋巴管间隙浸润(两者p均<0.01)。自手术以来,中位随访67.7个月,ITC患者均未复发。

结论

这项初步研究未发现肿瘤突变频率与LN转移体积之间存在差异。ITC数量少限制了检测基因组差异的能力,然而突变似乎与预期的组织学类型相符。需要更多研究来明确基因组突变、组织学、ITC和预后之间的关系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bc8/7940789/1b2bfb572bf1/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bc8/7940789/38b30aacebe0/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bc8/7940789/1e0d71d406ba/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bc8/7940789/1b2bfb572bf1/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bc8/7940789/38b30aacebe0/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bc8/7940789/1e0d71d406ba/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3bc8/7940789/1b2bfb572bf1/gr3.jpg

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Molecular Classification of the PORTEC-3 Trial for High-Risk Endometrial Cancer: Impact on Prognosis and Benefit From Adjuvant Therapy.PORTEC-3 试验高危子宫内膜癌的分子分类:对预后的影响和辅助治疗的获益。
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High-grade Endometrial Carcinomas: Morphologic and Immunohistochemical Features, Diagnostic Challenges and Recommendations.高级别子宫内膜癌:形态学和免疫组化特征、诊断挑战与建议
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