Liquid biopsy data reveals “intriguing” association between ESR1 mutations, HER2 alterations and prognosis

Bologna, Italy and Huntingdon Valley, Pa., May 28, 2019 -- Menarini Silicon Biosystems, the pioneer of liquid biopsy and single cell technologies, announced today that two studies using the company’s CELLSEARCH^® Circulating Tumor Cell (CTC) test provided preliminary insight into the impact of liquid biopsy on metastases and prognosis for patients with metastatic breast cancer (MBC). The studies involving CELLSEARCH, considered the gold standard in liquid biopsy technology, will be presented at the upcoming annual meeting of the American Society of Clinical Oncology (ASCO).

In both studies, researchers from Northwestern University used the FDA-cleared CELLSEARCH system to isolate CTCs in the same population of 85 MBC patients. In the first study, they explored the role of CTCs and circulating tumor DNA (ctDNA) in predicting metastatic sites. Researchers found that mutations in ESR1 were associated with liver metastases. In addition, patients with both hormone receptor-positive MBC and ESR1 mutations also had bone metastases, as did patients with high CTC counts (≥ 5 CTCs/7.5 mL blood).

“We currently do not have any biomarker to predict where metastases will occur. As a result, every patient with metastatic breast cancer receives the same monitoring and treatments even though we know some patients with specific sites of recurrence may be more resistant to some specific interventions,” said study coauthor Massimo Cristofanilli, M.D., F.A.C.P., Associate Director of Translational Research at the Robert H. Lurie Medical Research Center, Northwestern University. “These results are quite intriguing, and we should continue to investigate whether patients with certain mutations or CTC characteristics that appear to be more prone to develop visceral metastasis can be better directed to more tailored imaging monitoring and personalized targeted therapies.”

In the second study, researchers analyzed isolated CTCs and cell-free DNA (cfDNA) from the same patient population to investigate the impact of biological tumor characteristics on prognosis. They found that patients whose cfDNA harbored ESR1 mutations and HER2 alterations had a higher number of CTCs and higher average number of metastatic sites than patients whose cfDNA did not. Patients with both mutations in ESR1 and alterations in HER2 had the worst overall survival.

“While these results are preliminary, we hope to verify that this combination of ESR1 mutations and HER2 alterations results in more aggressive MBC,” said study coauthor Lorenzo Gerratana, M.D., a research fellow in medical oncology with the Robert H. Lurie Medical Research Center, Northwestern University and University of Udine, Italy. “In the future, this could potentially expand the role of liquid biopsy for enumerating CTCs and monitoring metastatic prognosis.”

CELLSEARCH is the first and only clinically validated blood test cleared by the FDA for detecting and enumerating CTCs to aid physicians in managing patients with metastatic breast, prostate, and colorectal cancers* when used in conjunction with other clinical methods of monitoring. The test is also approved by the China Food & Drug Administration for use in monitoring patients with MBC.

“There is already a large body of research showing that the CELLSEARCH CTC test provides clinically actionable information,” said Fabio Piazzalunga, President and CEO of Menarini Silicon Biosystems, Inc. “While still exploratory, these studies represent another important step in advancing precision medicine for metastatic breast cancer.” 

The CELLSEARCH System is the most extensively studied CTC technology, with research published in more than 650 peer-reviewed publications. Providing valuable information to help physicians make patient-management decisions along with other clinical monitoring methods, the CELLSEARCH CTC test is performed at a reference laboratory using the CELLSEARCH System. CELLSEARCH CTC testing can be used throughout a given therapy for metastatic breast, colorectal, and prostate cancer to monitor a patient’s status by showing if their prognosis is favorable.

To learn more about the CELLSEARCH System, ASCO annual meeting attendees can visit Menarini Silicon Biosystems at Booth #4111.

POSTER PRESENTATION: Can the enumeration of circulating tumor cells (CTCs) and the characterization of circulating tumor DNA (ctDNA) provide insight into organ tropism in metastatic breast cancer? (Abstract #3038)

Lead Author: Lorenzo Gerratana, M.D.; Department of Medicine, University of Udine

Session Title: Developmental Therapeutics and Tumor Biology (Nonimmuno)
Date: Saturday, June 1, 2019
Time:  8:00 am – 11:00 am
Location: Hall A
Poster Board #30

POSTER PRESENTATION: Association of HER2 alterations and ESR1 mutations in cell-free DNA (cfDNA) with circulating tumor cells (CTCs), multiple metastasis, and prognosis in stage III/IV breast cancer (BCa) (Abstract #1036)

Lead Author: Qiang Zhang, M.D., Ph.D.; Robert H. Lurie Comprehensive Cancer Center, Northwestern University

Session Title: Breast Cancer - Metastatic
Date: Sunday, June 2, 2019
Time:  8:00 am – 11:00 am
Location: Hall A
Poster Board #117

About Menarini Silicon Biosystems

Menarini Silicon Biosystems, based in Bologna, Italy, and Huntingdon Valley (PA), USA, develops technologies and products that help researchers understand the biological complexity of disease through the study of single cells. The company manufactures and markets the DEPArray NxT, the only image-based digital cell-sorting and isolation platform that enables clinical researchers to conduct molecular analyses on live or fixed cells with single-cell precision. In 2017 Menarini Silicon Biosystems purchased all the assets and relevant business related to the CELLSEARCH® Circulating Tumor Cell (CTC) System. The integration of CELLSEARCH and DEPArray provides an end-to-end workflow solution** for the enumeration, isolation, and molecular characterization of CTCs from a simple blood test in the clinical research setting. This will help drive the clinical utility and correlation of CTCs with the effectiveness of specific therapies. Menarini Silicon Biosystems is a wholly owned subsidiary of the Menarini Group, a multinational pharmaceutical, biotechnology and diagnostics company headquartered in Florence, Italy, with a heritage of over 130 years and over 17,000 employees in more than 100 countries.

*For more information on the full intended use and limitations of CELLSEARCH system, please refer to the Instructions for Use at https://documents.cellsearchctc.com/.

**The workflow described is for research use only. Not for use in diagnostic procedures. The performance characteristics, safety, and effectiveness of the workflow have not been established and are not cleared or approved by the FDA.