{"id":240693,"date":"2026-02-05T07:20:25","date_gmt":"2026-02-05T12:20:25","guid":{"rendered":"https:\/\/today.uconn.edu\/?p=240693"},"modified":"2026-02-11T12:06:09","modified_gmt":"2026-02-11T17:06:09","slug":"1-of-3-in-the-us-for-advanced-brain-spine-tumor-diagnostics","status":"publish","type":"post","link":"https:\/\/today.uconn.edu\/2026\/02\/1-of-3-in-the-us-for-advanced-brain-spine-tumor-diagnostics\/","title":{"rendered":"1 of 4 in the US for Advanced Brain, Spine Tumor Diagnostics"},"content":{"rendered":"

\"Healthcare<\/a>An advanced method of diagnosing brain and spine tumors known as methylome profiling enables targeted treatment with previously unattainable levels of precision.<\/p>\n

In 2017, UConn Health\u2019s Division of Neurosurgery (today the Department of Neurosurgery<\/a>) started a campus-wide clinical precision genomics initiative. Through the Department of Neurosurgery and the Department of Pathology and Laboratory Medicine<\/a>, UConn Health, in partnership with The Jackson Laboratory for Genomic Medicine<\/a> (JAX), validated state-of-the art methylome profiling. This made it one of four locations in the country with the capability to provide this advanced diagnostic method on-site.<\/p>\n

The precision genomics clinical initiative for brain and spine tumors is advanced biweekly through a multidisciplinary conference by Dr. Kevin Becker<\/a>, director of medical neuro-oncology and assistant professor in the Department of Neurosurgery.<\/p>\n

\"Dr.<\/a>
Dr. Qian Wu is a professor of pathology and laboratory medicine and the chief of anatomic pathology and autopsy service at UConn Health. (Tina Encarnacion\/UConn Health photo)<\/figcaption><\/figure>\n

\u201cWe are sending our samples to JAX, but JAX not only receives our samples, they are capable of receiving the samples from the world through the initiative established at UConn Health,\u201d says Dr. Qian Wu<\/a>, UConn Health\u2019s neuropathologist, who combines her expertise with that of JAX to gain a greater understanding of the brain tumor cells\u2019 biology.<\/p>\n

Methylome profiling classifies brain tumors using a machine-learning algorithm based on DNA methylation patterns, which is now the World Health Organization\u2019s standard for classifying central nervous system tumors.<\/p>\n

\u201cThis technology is very powerful, because it provides accurate diagnosis and reclassifies some of the brain tumors that we previously had just diagnosed based on less advanced methods,\u201d Wu says. \u201cEvery brain and spine tumor diagnosis is attached with molecular signatures of that tumor. So this opens the doors to targeted therapy. Molecular testing of these tumors became an essential part of diagnosis, and methylation tumor classifiers allow further precise tumor classification.\u201d<\/p>\n

\"portrait<\/a>
Melissa Kelly is director of the Advanced Precision Medicine Laboratory at the Jackson Laboratory for Genomic Medicine. (JAX photo)<\/figcaption><\/figure>\n

Medical centers around the U.S. send their tumor samples to the National Cancer Institute for methylation profiling, but the NCI can take six to eight weeks to return results. Wu\u2019s collaborator at JAX is Melissa Kelly<\/a>, who directs the JAX Advanced Precision Medicine Laboratory<\/a>, where results are reported within two weeks.<\/p>\n

\u201cUsing the methylation signatures of a tumor can provide a more accurate and specific diagnosis than standard histopathologic assessment alone, and combined with other technologies, such as NGS, methylation profiling can guide physicians toward the best treatment\/care plan for their patients,\u201d Kelly says. \u201cWe also turn the methylation profiling results around in two weeks or less, which means patients can get answers quickly and start critical therapies sooner.\u201d<\/p>\n

In addition to serving on UConn Health\u2019s brain tumor board, Wu is part of the Maine Cancer Genomics Initiative, a JAX molecular brain tumor board with national experts that seeks to expand access to precision cancer care in the underserved regions.<\/p>\n

\u201cOur collaboration with JAX raises UConn\u2019s clinical service in the fields of neuropathology, neurosurgery, and neuro-oncology to a national\/international level,\u201d Wu says. \u201cI think this is the beginning of a new era. The expansion of the clinical departments of neurology and neurosurgery in combination with the modern technology available at JAX sets the stage for future endeavors, such as clinical trials.\u201d<\/p>\n

\u201cCancer diagnosis has evolved from conventional morphology to integration with immunophenotyping and molecular profiling of tumors,\u201d says Dr. Enrique Ballesteros<\/a>, chair of UConn Health\u2019s Department of Pathology and Laboratory Medicine. \u201cSubspecialist pathologists can best manage and integrate this information with prognostic and therapeutic significance to optimize patient care. Dr. Wu provides this valuable neuropathology service for the diagnosis of brain and spine tumors.\u201d<\/p>\n

\"Dr.<\/a>
Dr. Ketan Bulsara is chair of UConn Health\u2019s Department of Neurosurgery. (Janine Gelineau\/ UConn Health photo)<\/figcaption><\/figure>\n

Wu, one of fewer than 10 neuropathologists in Connecticut, and the only one at UConn Health, says the number of brain and spine tumor patients treated at UConn Health has increased exponentially.<\/p>\n

\u201cThe development of methylome profiling through a multidisciplinary team at UConn Health in collaboration with JAX lab provides unparalleled diagnostic and then treatment options for patients with brain and spine tumors,\u201d says Dr. Ketan Bulsara<\/a>, chair of the Department of Neurosurgery. \u201cDr. Wu has emerged as a national and international leader in his arena as we continue to provide patients care second to none now and continue to shape the future of treatments.\u201d<\/p>\n

Learn more about the Brain and Spine Institute at UConn Health.<\/a><\/p>\n

Watch the JAX video \u201cJAX in Motion | Precision Brain Cancer Diagnosis”:<\/p>\n