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Poster highlights research on clinically actionable gene fusions in pediatric cancer samples using Arima Hi-C technology

SAN DIEGO, Calif. and KANSAS CITY, Mo. (April 6, 2022) Arima Genomics, the leader in 3D genomics, and Children’s Mercy Kansas City, a top pediatric health system, today announced that they will be presenting a poster at the American Association for Cancer Research (AACR) Annual Meeting to be held April 8-13, 2022, in New Orleans, La. The poster will outline research using Arima Genomics’ Hi-C sequencing to detect clinically actionable gene fusions in archived pediatric cancer specimens.

The research sought to evaluate the effectiveness of Arima Genomics’ Hi-C sequencing in the unbiased detection of gene fusions. Researchers analyzed five samples from individuals with pediatric alveolar rhabdomyosarcoma (ARMS) tumors with known gene fusions of clinical significance, as well as two pediatric leukemia samples without detectable gene fusions based on prior cytogenetic and NGS-based testing. Researchers used formalin fixed paraffin embedded (FFPE) tissue samples from five ARMS tumors and cryopreserved blasts from two leukemia cases for analysis with Arima-HiC+ sample preparation followed by short-read sequencing using an Illumina HiSeq 2500 system. The Arima Genomics Hi-C workflow was able to detect all previously identified gene fusions in the ARMS samples and previously undetected gene fusions in the pediatric leukemia samples.

“Gene fusions are known to have oncogenic effects in various cancers, yet it can be difficult to fully understand structural variation using many of the techniques widely used in clinical testing today. In each of the samples we tested in this study, we were able to detect clinically relevant structural variation, both validating prior findings and identifying previously undetected gene fusions,” said Midhat Farooqi, M.D., Ph.D., Director, Molecular Oncology at the Center for Pediatric Genomic Medicine, Children’s Mercy and the Children’s Mercy Research Institute. “Our research illustrates the potential for using Hi-C sequencing technology in providing actionable molecular diagnostic information about gene fusions to clinicians caring for cancer patients.”

“This research shows the value of 3D genomics using Arima Genomics’ technology in detecting clinically important structural variants in FFPE samples and elucidating previously undetected genetic drivers of disease,” said Anthony Schmitt, Ph.D., Senior Vice President of Science at Arima Genomics. “We hope that as the scientific community continues to develop a better understanding of structural variation in cancer, these tools will open the door to improved biomarker development, patient stratification, diagnostics, and ultimately the development of novel targeted therapeutics.”

About the Poster Presentation

Title:  Identification of clinically relevant gene fusions in archived pediatric solid and liquid tumor samples using Arima-HiC sequencing

Authors: Kristin Sikkink, Ph.D., (Arima Genomics), Derek Reid (Arima Genomics), Anthony Schmitt, Ph.D., (Arima Genomics), Midhat Farooqi, M.D., Ph.D. (Children’s Mercy Hospital), Atif Ahmed, M.D. (Children’s Mercy Hospital)

Location: American Association for Cancer Research (AACR) Annual Meeting, New Orleans Convention Center, Exhibit Halls D-H, Poster Section 13, to be displayed Tuesday, April 12, 2022, 9:00 am – 12:30 pm.

For more information, visit https://arimagenomics.com/events/aacr2022/

Funding Support: This work was made possible through generous financial support provided by the Black & Veatch Foundation, Big Slick, and Braden’s Hope for Childhood Cancer, as well as the Department of Pathology & Laboratory Medicine at Children’s Mercy.


About Arima Genomics

Arima Genomics, Inc. is advancing life sciences research through the power of 3D genomics by providing unparalleled access to the sequence and structure of any genome. Arima Genomics offers the most advanced technologies for preserving the structural organization of the genome to drive discovery in genome biology and human health. To learn more, visit www.arimagenomics.com and connect with us on Twitter, LinkedIn, and YouTube.

About Children’s Mercy Kansas City

Founded in 1897, Children’s Mercy is a leading independent children’s health organization dedicated to holistic care, translational research, educating caregivers and breakthrough innovation to create a world of well-being for all children. With not-for-profit hospitals in Missouri and Kansas, and numerous specialty clinics in both states, Children’s Mercy provides the highest level of care for children from birth through the age of 21. U.S. News & World Report has repeatedly ranked Children’s Mercy as one of “America’s Best Children’s Hospitals.” For the fifth consecutive time in a row, Children’s Mercy has achieved Magnet nursing designation, awarded to only about 8% of all hospitals nationally, for excellence in quality care. More than 850 pediatric subspecialists, researchers and faculty across more than 40 subspecialties are actively involved in clinical care, pediatric research and education of the next generation of pediatric subspecialists. Thanks to generous philanthropic and volunteer support, Children’s Mercy provides hope, comfort and the prospect of brighter tomorrows to every child who passes through its doors. Visit Children’s Mercy and the Children’s Mercy Research Institute to learn more, and follow us on Facebook, LinkedIn, TwitterInstagram and YouTube for the latest news and videos.


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