Two new studies used Menarini Silicon Biosystems’ liquid biopsy technology to learn more about genetic changes in circulating cancer cells that may improve prognosis and help guide treatment. These studies, presented as posters at the June 22-24 virtual annual meeting II of the American Association for Cancer Research, utilized Menarini’s CellSearch and DEPArray NxT technologies to capture circulating tumor cells for analysis. In one study, Massimo Cristofanilli, MD, associate director of translational research at the Robert H. Lurie Cancer Center of Northwestern University, and colleagues collected blood samples from 239 patients with stage III/IV breast cancer, then isolated and selected more than 200 individual tumor cells from patients with HER2+ cells.1 The scientists then sequenced the genetic codes of each of those cells.
Previously, Cristofanilli had shown that one specific genetic change in circulating tumor cells, the overexpression of a gene called HER2, was associated with more aggressive metastatic cancer and a worse prognosis. The new study revealed additional genetic alterations that occur more frequently in metastatic breast cancer cells, the most important being a genetic variant called the PTPN1 mutation. “The new findings are exciting because they deepen our understanding of the mechanisms underlying the critical process of cancer metastasis,” says Cristofanilli. “The genetic alterations we found also could lead to the development of drugs that specifically target the mutations to improve the treatment of this deadly disease.” In the second study, scientists led by Claudio Forcato, PhD, head of the bioinformatics unit at Menarini Silicon Biosystems, captured, isolated, and sequenced circulating cancer cells from three patients with multiple myeloma.2 They then looked for a genetic phenomenon called “loss-of-heterozygosity” (LoH), in which one of the two alleles that are normally found at a specific spot in the genetic code is lost. They found such LoH events in the cancer cells from all of the multiple myeloma patients. “Our results suggest that loss-of-heterozygosity may be pervasive in multiple myeloma and may offer a prognostic and predictive biomarker for the disease,” explains Forcato. “These two new studies show how our technologies are advancing the understanding of cancers like metastatic breast cancer and multiple myeloma, and may lead to improved, more personalized treatment options for patients with these diseases,” says Fabio Piazzalunga, president and CEO of Menarini Silicon Biosystems. CellSearch is the first and only clinically validated blood test cleared by the FDA for detecting and counting CTCs to aid physicians in managing patients with metastatic breast, prostate, and colorectal cancers when used in conjunction with other clinical methods of monitoring. DEPArray NxT is an 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. For more information, visit Menarini Silicon Biosystems. References 1. Zhang Q, Gerratana L, Pivarski KL, et al. Genetic heterogeneity profiling for HER2 positive single circulating tumor cell (CTC) in metastatic breast cancer (MBC) by application of DEPArray System and single cell DNA sequencing for HER2 positive single circulating tumor cell (CTC) in metastatic breast cancer (MBC) by application DEPArray system and single cell DNA sequencing. Presented at American Association for Cancer Research 2020 Annual Meeting; June 22, 2020. Available at https://www.abstractsonline.com/pp8/#!/9045/presentation/4361. Accessed August 9, 2020. 2. Forcato C, Ferrarini A, Buson G, et al. Analysis of low-pass sequencing data reveals extensive loss-of-heterozygosity in circulating multiple myeloma cells. Presented at American Association for Cancer Research 2020 Annual Meeting; June 22, 2020. Available at https://www.abstractsonline.com/pp8/#!/9045/presentation/2058. Accessed August 9, 2020. Featured image: Circulating tumor cells. Courtesy Menarini Silicon Biosystems.