On August 4, 2020 Menarini Silicon Biosystems, the pioneer of liquid biopsy technology, reported two new studies describing genetic changes in circulating cancer cells that may improve cancer prognosis and help guide treatment (Press release, Menarini Silicon Biosystems, AUG 4, 2020, View Source [SID1234562854]). These studies were presented as posters at the June 22-24 virtual annual meeting II of the American Association for Cancer Research (AACR) (Free AACR Whitepaper) . Menarini’s CELLSEARCH and DEPArrayTM NxT technologies were used to capture and isolate the circulating tumor cells for analysis. In one study, Massimo Cristofanilli, M.D., F.A.C.P., 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*. The scientists then sequenced the genetic codes of each of those cells.
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Previously, Dr. 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," said Dr. 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*. 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," explained Dr. 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," said Fabio Piazzalunga, President and CEO of Menarini Silicon Biosystems, Inc.
CELLSEARCH** is the first and only clinically validated blood test cleared by the U.S. Food & Drug Administration (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. The test is also approved by the China Food & Drug Administration for use in monitoring patients with Metastatic Breast Cancer (MBC). The CELLSEARCH System is the most extensively studied CTC technology, with research published in more than 650 peer-reviewed publications.
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.