Use of Liquid Biopsy to Detect &lt;i&gt;PIK3CA&lt;/i&gt; Mutation in Metastatic Breast Cancer

Nakai, Masami; Yamada, Takeshi; Sekiya, Kenta; Sato, Ai; Hankyo, Meishi; Kuriyama, Satoru; Takahashi, Goro; Kurita, Tomoyuki; Yanagihara, Keiko; Yoshida, Hiroshi; Ohashi, Ryuji; Takei, Hiroyuki

doi:10.1272/jnms.jnms.2022_89-107

Cited by 6 publications

(5 citation statements)

References 24 publications

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“…The characterization of the different circulating biomarkers and the integration with the analyses of their mutational profiles could provide a new, more complete, reliable, and longitudinally repeatable tool in oncology. Different studies have been conducted in this direction, but most of them took into account two of the circulating biomarkers at the time, such as ctDNA and CTCs [ 43 ], ctDNA and EVs [ 44 ], or the comparison of one circulating biomarker with tissue [ 45 , 46 ]. In this study, we attempted to compare PIK3CA mutations in the metastatic BC clinical setting within three components of liquid biopsy, i.e., ctDNA, CTCs including “non-conventional” CTCs, and EVs isolated from four patients.…”

Section: Discussionmentioning

confidence: 99%

Targeting PIK3CA Actionable Mutations in the Circulome: A Proof of Concept in Metastatic Breast Cancer

Cardinali

Luca

Tasso

et al. 2022

IJMS

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The study of circulating cancer-derived components (circulome) is considered the new frontier of liquid biopsy. Despite the recognized role of circulome biomarkers, their comparative molecular profiling is not yet routine. In advanced breast cancer (BC), approximately 40% of hormone-receptor-positive, HER2-negative BC cases harbor druggable PIK3CA mutations suitable for combined alpelisib/fulvestrant treatment. This pilot study investigates PIK3CA mutations in circulating tumor DNA (ctDNA), tumor cells (CTCs), and extracellular vesicles (EVs) with the aim of determining which information on molecular targetable profiling could be recollected in each of them. The in-depth molecular analysis of four BC patients demonstrated, as a proof-of-concept study, that it is possible to retrieve mutational information in the three components. Patient-specific PIK3CA mutations were found in both tissue and ctDNA and in 3/4 cases, as well as in CTCs, in the classical population (large-sized CD45−/EpCAM+/− cells), and/or in the “non-conventional” sub-population (smaller-sized CD44+/EpCAM−/CD45− cells). Consistent mutational profiles of EVs with CTCs suggest that they may have been released by CTCs. This preliminary evidence on the molecular content of the different circulating biomaterials suggests their possible function as a mirror of the intrinsic heterogeneity of BC. Moreover, this study demonstrates, through mutational assessment, the tumor origin of the different CTC sub-populations sustaining the translational value of the circulome for a more comprehensive picture of the disease.

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Section: Discussionmentioning

confidence: 99%

Targeting PIK3CA Actionable Mutations in the Circulome: A Proof of Concept in Metastatic Breast Cancer

Cardinali

Luca

Tasso

et al. 2022

IJMS

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“…LB potentiates obtaining the complete molecular picture of the tumor and, thus, enhances more precise clinical decisions ( 5 , 77 ). Indeed, a number of studies successfully consolidate the significance of LB in BC ( 78 – 81 ) and other cancers too ( 82 , 83 ). Biomarkers detected via LB in biofluid samples provide an attractive alternative to biomarkers identified in tissues.…”

Section: Liquid Biopsy In Breast Cancermentioning

confidence: 99%

Potential utility of miRNAs for liquid biopsy in breast cancer

et al. 2022

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Breast cancer (BC) remains the most prevalent malignancy due to its incidence rate, recurrence, and metastasis in women. Conventional strategies of cancer detection– mammography and tissue biopsy lack the capacity to detect the complete cancer genomic landscape. Besides, they often give false- positive or negative results. The presence of this and other disadvantages such as invasiveness, high-cost, and side effects necessitates developing new strategies to overcome the BC burden. Liquid biopsy (LB) has been brought to the fore owing to its early detection, screening, prognosis, simplicity of the technique, and efficient monitoring. Remarkably, microRNAs (miRNAs)– gene expression regulators seem to play a major role as biomarkers detected in the samples of LB. Particularly, miR-21 and miR-155 among other possible candidates seem to serve as favorable biomarkers in the diagnosis and prognosis of BC. Hence, this review will assess the potential utility of miRNAs as biomarkers and will highlight certain promising candidates for the LB approach in the diagnosis and management of BC that may optimize the patient outcome.

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“…PIK3CA encodes for the p110a subunit of PI3K. PIK3CA mutations are associated with worse prognosis [ 80 ], although they confer sensitivity to PI3K inhibitors (PI3Ki) such as taselisib, alpelisib, buparlisib and copanlisib [ 71 , 81 , 82 ]. The majority of PIK3CA mutations are truncal mutations, including H1047R/L, N345K, G1049R, E545K and E542K, but others are subclonal [ 76 , 77 ].…”

Section: Ctdna In Metastatic Breast Cancermentioning

confidence: 99%

Role of ctDNA in Breast Cancer

Sant

Bernat-Peguera

Felip

et al. 2022

Cancers

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Breast cancer is currently classified by immunohistochemistry. However, technological advances in the detection of circulating tumor DNA (ctDNA) have made new options available for diagnosis, classification, biological knowledge, and treatment selection. Breast cancer is a heterogeneous disease and ctDNA can accurately reflect this heterogeneity, allowing us to detect, monitor, and understand the evolution of the disease. Breast cancer patients have higher levels of circulating DNA than healthy subjects, and ctDNA can be used for different objectives at different timepoints of the disease, ranging from screening and early detection to monitoring for resistance mutations in advanced disease. In early breast cancer, ctDNA clearance has been associated with higher rates of complete pathological response after neoadjuvant treatment and with fewer recurrences after radical treatments. In metastatic disease, ctDNA can help select the optimal sequencing of treatments. In the future, thanks to new bioinformatics tools, the use of ctDNA in breast cancer will become more frequent, enhancing our knowledge of the biology of tumors. Moreover, deep learning algorithms may also be able to predict breast cancer evolution or treatment sensitivity. In the coming years, continued research and the improvement of liquid biopsy techniques will be key to the implementation of ctDNA analysis in routine clinical practice.

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Use of Liquid Biopsy to Detect <i>PIK3CA</i> Mutation in Metastatic Breast Cancer

Cited by 6 publications

References 24 publications

Targeting PIK3CA Actionable Mutations in the Circulome: A Proof of Concept in Metastatic Breast Cancer

Targeting PIK3CA Actionable Mutations in the Circulome: A Proof of Concept in Metastatic Breast Cancer

Potential utility of miRNAs for liquid biopsy in breast cancer

Role of ctDNA in Breast Cancer

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