小柯机器人

英国伦敦国王学院Elinor J. Sawyer团队近期取得重要工作进展，他们通过基因组分析确定了原位导管癌和复发浸润性乳腺癌的克隆关系。该项研究成果2022年6月9日在线出版于《自然—遗传学》杂志上。

为了解决这个问题，研究人员对95名患者的初始DCIS病变和成对的侵袭性复发肿瘤进行了基因组分析，并在部分病例中进行了单细胞DNA测序。他们的数据显示，在75%的病例中，侵袭性复发与最初的DCIS克隆相关，这表明在初始治疗期间肿瘤细胞没有被清除。然而，令人惊讶的是，18%的病例与DCIS无关，代表新的独立谱系，7%的病例是模棱两可的。 这些知识对于DCIS的准确风险评估、治疗降级策略和预测性生物标志物的识别至关重要。

据介绍，原位导管癌(DCIS)是最常见的浸润前乳腺癌，尽管经过治疗，仍有一小部分(5-10%)的DCIS患者发展为后续浸润性疾病。一个基本的生物学问题是，侵袭性疾病是源于初始DCIS的肿瘤细胞，还是代表新的无关疾病。

附：英文原文

Title: Genomic analysis defines clonal relationships of ductal carcinoma in situ and recurrent invasive breast cancer

Author: Lips, Esther H., Kumar, Tapsi, Megalios, Anargyros, Visser, Lindy L., Sheinman, Michael, Fortunato, Angelo, Shah, Vandna, Hoogstraat, Marlous, Sei, Emi, Mallo, Diego, Roman-Escorza, Maria, Ahmed, Ahmed A., Xu, Mingchu, van den Belt-Dusebout, Alexandra W., Brugman, Wim, Casasent, Anna K., Clements, Karen, Davies, Helen R., Fu, Liping, Grigoriadis, Anita, Hardman, Timothy M., King, Lorraine M., Krete, Marielle, Kristel, Petra, de Maaker, Michiel, Maley, Carlo C., Marks, Jeffrey R., Menegaz, Brian A., Mulder, Lennart, Nieboer, Frank, Nowinski, Salpie, Pinder, Sarah, Quist, Jelmar, Salinas-Souza, Carolina, Schaapveld, Michael, Schmidt, Marjanka K., Shaaban, Abeer M., Shami, Rana, Sridharan, Mathini, Zhang, John, Stobart, Hilary, Collyar, Deborah, Nik-Zainal, Serena, Wessels, Lodewyk F. A., Hwang, E. Shelley, Navin, Nicholas E., Futreal, P. Andrew, Thompson, Alastair M., Wesseling, Jelle, Sawyer, Elinor J.

Issue&Volume: 2022-06-09

Abstract: Ductal carcinoma in situ (DCIS) is the most common form of preinvasive breast cancer and, despite treatment, a small fraction (5–10%) of DCIS patients develop subsequent invasive disease. A fundamental biologic question is whether the invasive disease arises from tumor cells in the initial DCIS or represents new unrelated disease. To address this question, we performed genomic analyses on the initial DCIS lesion and paired invasive recurrent tumors in 95 patients together with single-cell DNA sequencing in a subset of cases. Our data show that in 75% of cases the invasive recurrence was clonally related to the initial DCIS, suggesting that tumor cells were not eliminated during the initial treatment. Surprisingly, however, 18% were clonally unrelated to the DCIS, representing new independent lineages and 7% of cases were ambiguous. This knowledge is essential for accurate risk evaluation of DCIS, treatment de-escalation strategies and the identification of predictive biomarkers.

DOI: 10.1038/s41588-022-01082-3

Source: https://www.nature.com/articles/s41588-022-01082-3

Nature Genetics：《自然—遗传学》，创刊于1992年。隶属于施普林格·自然出版集团，最新IF：41.307
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投稿链接：https://mts-ng.nature.com/cgi-bin/main.plex