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DOI 10.1038/s41588-022-01082-3

Медицинская библиотека · Nature genetics · 2022

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

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, Grand Challenge PRECISION consortium, Thompson Alastair M, Wesseling Jelle, Sawyer Elinor J

СтатьяПоддержка исследования: вне правительства СШАПоддержка NIH: внешняя программаПоддержка правительства СШАПеревод пока не подготовлен

Аннотация

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.

Для цитирования: 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, Grand Challenge PRECISION consortium, Thompson Alastair M, Wesseling Jelle, Sawyer Elinor J. Genomic analysis defines clonal relationships of ductal carcinoma in situ and recurrent invasive breast cancer.. Nature genetics. 2022. DOI: 10.1038/s41588-022-01082-3.

Предметные рубрики MeSH

Biomarkers, TumorBreast NeoplasmsCarcinoma, Ductal, BreastCarcinoma, Intraductal, NoninfiltratingFemaleGenomicsHumansNeoplasm Recurrence, Local
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