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ORIGINAL RESEARCH article

Front. Oncol.
Sec. Breast Cancer
Volume 14 - 2024 | doi: 10.3389/fonc.2024.1434526
This article is part of the Research Topic Unraveling the Mysteries of Genome Instability: Potential Causes and Implications in Human Diseases View all articles

The value of chromosome instability detected by low-pass whole-genome sequencing in preoperative prediction of sentinel lymph node metastasis in breast cancer

Provisionally accepted
Jian Zheng Jian Zheng Fen Xu Fen Xu Guangying Li Guangying Li Moubin Lin Moubin Lin Hua Hao Hua Hao *
  • Yangpu Hospital, School of Medicine, Tongji University, Shanghai, China

The final, formatted version of the article will be published soon.

    Background Breast cancer is a malignancy characterized by chromosomal instability (CIN). This study aimed to examine the potential diagnostic value of chromosomal instability, detected by low-pass whole-genome sequencing (LPWGS), in the preoperative evaluation of sentinel lymph node metastasis (SLNM) in breast cancer. Methods A retrospective investigation of clinical records from 29 patients with breast cancer revealed two distinct groups based on sentinel lymph node biopsy (SLNB) results: the SLN metastasis group (24 cases) and the SLN non-metastasis group (five cases). CIN and CIN scores were evaluated using LPWGS. An analysis of univariate data and binary logistic regression was employed to identify factors influencing SLNM, and a curve with receiver operating characteristics (ROC) was constructed to assess the diagnostic utility of CIN in predicting SLNM. Results A significant association between the SLNM and CIN high groups was observed in breast cancer (P=0.011). The CIN score in the metastasis group (17,665.055±8,630.691) was higher than that in the non-metastasis group (9,247.973±3,692.873), demonstrating a significant difference (P=0.044). Univariate binary logistic regression analysis indicated that CIN was a significant predictor for SLNM (odds ratio: 4.036, 95% CI: 1.015-16.047, P=0.048). The AUC of CIN for preoperative diagnosis of SLNM was 0.808 (95%CI: 0.635-0.982, P=0.033), with a sensitivity value of 67.0% and specificity of 100.0% at a threshold of 13,563. Conclusion Detecting CIN through LPWGS demonstrates diagnostic potential in predicting SLNM in patients with breast cancer before surgery. This approach offers a novel method for assessing axillary lymph node status in clinical practice.

    Keywords: Chromosomal Instability, Low-pass whole-genome sequencing, Invasive breast cancer, Sentinel lymph node metastasis, receiver operating characteristics

    Received: 18 May 2024; Accepted: 05 Sep 2024.

    Copyright: © 2024 Zheng, Xu, Li, Lin and Hao. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Hua Hao, Yangpu Hospital, School of Medicine, Tongji University, Shanghai, China

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