Will traditional biopsy be substituted by radiomics and liquid biopsy for breast cancer diagnosis and characterisation?

Pesapane, Filippo; Suter, Matteo B.; Rotili, Anna; Penco, Silvia; Nigro, Olga; Cremonesi, Marta; Bellomi, Massimo; Jereczek‐Fossa, Barbara Alicja; Pinotti, Graziella; Cassano, Enrico

doi:10.1007/s12032-020-01353-1

Cited by 41 publications

(37 citation statements)

References 128 publications

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“…Indeed, with the availability of big data and cutting-edge analysis strategies (such as machine learning), the information coming from tumor genotype and phenotype decoded via imaging (29), may predict treatment failures suggesting a change in treatment strategy earlier than with conventional methods. Nevertheless, it should be noted that such techniques will not substitute tissue biopsy in the near future, since they will require the aid of other parameters to be correctly interpreted and acted upon (52).…”

Section: Resultsmentioning

confidence: 99%

Integrating Liquid Biopsy and Radiomics to Monitor Clonal Heterogeneity of EGFR-Positive Non-Small Cell Lung Cancer

Cucchiara

Valleggi

et al. 2020

Front. Oncol.

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BackgroundEGFR-positive Non-small Cell Lung Cancer (NSCLC) is a dynamic entity and tumor progression and resistance to tyrosine kinase inhibitors (TKIs) arise from the accumulation, over time and across different disease sites, of subclonal genetic mutations. For instance, the occurrence of EGFR T790M is associated with resistance to gefitinib, erlotinib, and afatinib, while EGFR C797S causes osimertinib to lose activity. Sensitive technologies as radiomics and liquid biopsy have great potential to monitor tumor heterogeneity since they are both minimally invasive, easy to perform, and can be repeated over patient’s follow-up, enabling the extraction of valuable information. Yet, to date, there are no reported cases associating liquid biopsy and radiomics during treatment.Case presentationIn this case series, seven patients with metastatic EGFR-positive NSCLC have been monitored during target therapy. Plasma-derived cell free DNA (cfDNA) was analyzed by a digital droplet PCR (ddPCR), while radiomic analyses were performed using the validated LifeX® software on computed tomography (CT)-images. The dynamics of EGFR mutations in cfDNA was compared with that of radiomic features. Then, for each EGFR mutation, a radiomic signature was defines as the sum of the most predictive features, weighted by their corresponding regression coefficients for the least absolute shrinkage and selection operator (LASSO) model. The receiver operating characteristic (ROC) curves were computed to estimate their diagnostic performance. The signatures achieved promising performance on predicting the presence of EGFR mutations (R2 = 0.447, p <0.001 EGFR activating mutations R2 = 0.301, p = 0.003 for T790M; and R2 = 0.354, p = 0.001 for activating plus resistance mutations), confirmed by ROC analysis.ConclusionTo our knowledge, these are the first cases to highlight a potentially promising strategy to detect clonal heterogeneity and ultimately identify patients at risk of progression during treatment. Together, radiomics and liquid biopsy could detect the appearance of new mutations and therefore suggest new therapeutic management.

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Section: Resultsmentioning

confidence: 99%

Integrating Liquid Biopsy and Radiomics to Monitor Clonal Heterogeneity of EGFR-Positive Non-Small Cell Lung Cancer

Cucchiara

Valleggi

et al. 2020

Front. Oncol.

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“…There are now effective lines of treatment for patients with metastatic disease, which can improve symptoms, prevent complications and prolong life [8][9][10][11][12][13]. Furthermore, oligometastatic disease (typically < 5 metastases), may be suitable for aggressive local therapy in combination with systemic treatment.…”

Section: The Approach To the Patient With Suspected Advanced Breast Cmentioning

confidence: 99%

Imaging diagnosis of metastatic breast cancer

et al. 2020

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Numerous imaging modalities may be used for the staging of women with advanced breast cancer. Although bone scintigraphy and multiplanar-CT are the most frequently used tests, others including PET, MRI and hybrid scans are also utilised, with no specific recommendations of which test should be preferentially used. We review the evidence behind the imaging modalities that characterise metastases in breast cancer and to update the evidence on comparative imaging accuracy.

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“…The quantification of heterogeneity relies on identification of various biomarkers, by the use of either tissue biopsy or medical imaging features. While the image-guided biopsies offer excellent spatial resolution for tissue analysis on a cellular scale and allow genetic and molecular sequencing [ 16 ]; however, biopsy is limited by risks of invasive procedures and focal sampling errors and limitation by tumoral characteristics such as small size, location or heterogenous necrosis [ 3 , 13 , 14 ].…”

Section: Why Do We Need Radiomics In the Breast Cancer Care?mentioning

confidence: 99%

“…Moreover, recent technological advances in the field of computation and artificial intelligence (AI) applied to radiomics, hold promise in addressing challenges in its application [ 1 , 2 ]. In breast cancer, radiomics has been recently applied to identify molecular phenotypes and lymph node metastases, to evaluate treatment response and to predict disease survival [ 3 , 4 , 5 , 6 , 7 , 8 ].…”

Section: Introductionmentioning

confidence: 99%

Recent Radiomics Advancements in Breast Cancer: Lessons and Pitfalls for the Next Future

et al. 2021

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Radiomics is an emerging translational field of medicine based on the extraction of high-dimensional data from radiological images, with the purpose to reach reliable models to be applied into clinical practice for the purposes of diagnosis, prognosis and evaluation of disease response to treatment. We aim to provide the basic information on radiomics to radiologists and clinicians who are focused on breast cancer care, encouraging cooperation with scientists to mine data for a better application in clinical practice. We investigate the workflow and clinical application of radiomics in breast cancer care, as well as the outlook and challenges based on recent studies. Currently, radiomics has the potential ability to distinguish between benign and malignant breast lesions, to predict breast cancer’s molecular subtypes, the response to neoadjuvant chemotherapy and the lymph node metastases. Even though radiomics has been used in tumor diagnosis and prognosis, it is still in the research phase and some challenges need to be faced to obtain a clinical translation. In this review, we discuss the current limitations and promises of radiomics for improvement in further research.

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Will traditional biopsy be substituted by radiomics and liquid biopsy for breast cancer diagnosis and characterisation?

Cited by 41 publications

References 128 publications

Integrating Liquid Biopsy and Radiomics to Monitor Clonal Heterogeneity of EGFR-Positive Non-Small Cell Lung Cancer

Integrating Liquid Biopsy and Radiomics to Monitor Clonal Heterogeneity of EGFR-Positive Non-Small Cell Lung Cancer

Imaging diagnosis of metastatic breast cancer

Recent Radiomics Advancements in Breast Cancer: Lessons and Pitfalls for the Next Future

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