Genome evolution in ductal carcinoma <i>in situ</i>: invasion of the clones

Casasent, Anna; Edgerton, Mary E.; Navin, Nicholas E.

doi:10.1002/path.4840

Cited by 76 publications

(68 citation statements)

References 125 publications

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“…The molecular characterization of tumours also has the potential to give insight into mechanisms of resistance to therapies and tumour heterogeneity (Burrell and Swanton, 2014; Carter et al ., 2017; Casasent et al ., 2017; Jamal‐Hanjani et al ., 2015; Navin, 2015). Circulating tumour cells (CTCs) found in the blood of patients with cancer are being evaluated for clinical utility as a liquid biopsy that can facilitate molecular characterization of the patient's disease (Carter et al ., 2017; Diaz and Bardelli, 2014; Fusi et al ., 2013; Krebs et al ., 2014; Rothwell et al ., 2016).…”

Section: Introductionmentioning

confidence: 99%

Molecular analysis of single circulating tumour cells following long‐term storage of clinical samples

et al. 2017

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The CellSearch® semiautomated CTC enrichment and staining system has been established as the ‘gold standard’ for CTC enumeration with CellSearch® CTC counts recognized by the FDA as prognostic for a number of cancers. We and others have gone on to show that molecular analysis of CellSearch® CTCs isolated shortly after CellSearch® enrichment provides another valuable layer of information that has potential clinical utility including predicting response to treatment. Although CellSearch® CTCs can be readily isolated after enrichment, the process of analysing a single CellSearch® patient sample, which may contain many CTCs, is both time‐consuming and costly. Here, we describe a simple process that will allow storage of all CellSearch®‐enriched cells in glycerol at −20 °C for up to 2 years without any measurable loss in the ability to retrieve single cells or in the genome integrity of the isolated cells. To establish the suitability of long‐term glycerol storage for single‐cell molecular analysis, we isolated individual CellSearch®‐enriched cells by DEPArray™ either shortly after CellSearch® enrichment or following storage of matched enriched cells in glycerol at −20 °C. All isolated cells were subjected to whole‐genome amplification (WGA), and the efficacy of single‐cell WGA was evaluated by multiplex PCR to generate a Genome Integrity Index (GII). The GII results from 409 single cells obtained from both ‘spike‐in’ controls and clinical samples showed no statistical difference between values obtained pre‐ and postglycerol storage and that there is no further loss in integrity when DEPArray™‐isolated cells are then stored at −80 °C for up to 2 years. In summary, we have established simple yet effective ‘stop‐off’ points along the CTC workflow enabling CTC banking and facilitating selection of suitable samples for intensive analysis once patient outcomes are known.

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Section: Introductionmentioning

confidence: 99%

Molecular analysis of single circulating tumour cells following long‐term storage of clinical samples

et al. 2017

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“…The selective manipulation can be done using platforms like DEParray and Rarecyte, but these can be applied only when the cells were enriched from the processed blood samples, by which the enrichment step causes loss in the rare samples . Laser microdissection techniques also have been utilized to process CTCs after capture, but their throughput is too low, and the ultraviolet (UV) beam used not only limits the throughput by burning the cell periphery but also causes damage to the cells . Even for microdissection using infrared (IR) light, which uses direct contact methods, cell debris or nonselected cells may cross‐contaminate the targeted cells .…”

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confidence: 99%

“…[19,20] Laser microdissection techniques also have been utilized to process CTCs after capture, [21] but their throughput is too low, and the ultraviolet (UV) beam used not only limits the throughput by burning the cell periphery but also causes damage to the cells. [22] Even for microdissection using infrared (IR) light, which uses direct contact methods, cell debris or nonselected cells may cross-contaminate the targeted cells. [23,24] Because of the heterogeneous nature of CTCs, it is important to analyze each different profile of the CTCs separately in an efficient and selective manner.…”

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confidence: 99%

Whole Genome Sequencing of Single Circulating Tumor Cells Isolated by Applying a Pulsed Laser to Cell‐Capturing Microstructures

Kim

Lee

et al. 2019

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Single cell analysis of heterogeneous circulating tumor cells (CTCs), by which the genomic profiles of rare single CTCs are connected to the clinical status of cancer patients, is crucial for understanding cancer metastasis and the clinical impact on patients. However, the heterogeneity in genotypes and phenotypes and rarity of CTCs have limited extensive single CTC genome research, further hindering clinical investigation. Despite recent efforts to build platforms that separate CTCs, the investigation on CTCs is difficult due to the lack of a retrieval process at the single cell level. In this study, laser‐induced isolation of microstructures on an optomechanically‐transferrable‐chip and sequencing (LIMO‐seq) is applied for whole genome sequencing of single CTCs. Also, the whole genome sequences and the molecular profiles of the isolated single cells from the whole blood of a breast cancer patient are analyzed.

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“…In-depth genetic studies of DCIS and synchronous IBC reported intra-tumoral genetic heterogeneity and genetic differences between DCIS and synchronous IBC [1, 2]. Based on these findings, an evolutionary bottleneck selection model has been proposed [3, 4]. According to this theory, distinct subclones with specific genetic changes are selected during the transition from DCIS to invasive disease.…”

mentioning

confidence: 99%

“…This leads to differences in the prevalence of specific mutations between the neoplastic DCIS cells and invasive counterpart [3, 5, 6]. In contrast to this model, a multiclonal evolution theory has been proposed, which assumes that multiple subclones in DCIS co-migrate during the transition from DCIS to IBC [4, 7]. To increase our understanding of DCIS progression, we performed massive parallel sequencing of synchronous DCIS and IBC.…”

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confidence: 99%

Progression of ductal carcinoma in situ to invasive breast cancer: comparative genomic sequencing

et al. 2018

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Several models have been described as potential mechanisms for the progression of ductal carcinoma in situ (DCIS) to invasive breast cancer (IBC). The aim of our study was to increase our understanding of DCIS progression by using massive parallel sequencing of synchronous DCIS and IBC. We included patients with synchronous DCIS and IBC (n = 4). Initially, IBC and normal tissue were subjected to whole exome sequencing. Subsequently, targeted sequencing was performed to validate those tumor-specific variants identified by whole exome sequencing. Finally, we analyzed whether those specific variants of the invasive component were also present in the DCIS component. There was a high genomic concordance between synchronous DCIS and IBC (52 out of 92 mutations were present in both components). However, the remaining mutations (40 out of 92) were restricted to the invasive component. The proportion of tumor cells with these mutations was higher in the invasive component compared to the DCIS component in a subset of patients. Our findings support the theory that the progression from DCIS to IBC could be driven by the selection of subclones with specific genetic aberrations. This knowledge improves our understanding of DCIS progression, which may lead to the identification of potential markers of progression and novel therapeutic targets in order to develop a more personalized treatment of patients with DCIS.

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Genome evolution in ductal carcinoma in situ: invasion of the clones

Cited by 76 publications

References 125 publications

Molecular analysis of single circulating tumour cells following long‐term storage of clinical samples

Molecular analysis of single circulating tumour cells following long‐term storage of clinical samples

Whole Genome Sequencing of Single Circulating Tumor Cells Isolated by Applying a Pulsed Laser to Cell‐Capturing Microstructures

Progression of ductal carcinoma in situ to invasive breast cancer: comparative genomic sequencing

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