\nThis methylome profiling allows us to precisely give a grading of the meningioma.
\n — Dr. Qian Wu<\/cite><\/p>\n<\/blockquote><\/span><\/p>\n<\/p>\n
One of those places is Farmington, Connecticut, where UConn Health and The Jackson Laboratory for Genomic Medicine (JAX) have been collaborating on brain tumor genomic sequencing for the last five years. Most recently, they\u2019re employing this methylome profiling technique and using the data it yields to inform treatment decisions.<\/p>\n
\u201cWe are one of the few centers in the country that can routinely do a 550-gene panel analysis of tumors in almost real-time to guide treatment,\u201d says. Dr. Ketan Bulsara<\/a>, chief of the UConn Health Division of Neurosurgery. \u201cFurthermore, though many centers use the methylation signature of tumors for research purposes, to the best of my knowledge we are one of nine centers in the world and one of four in the United States that is routinely using it for clinical analysis of these tumors to guide treatment.\u201d<\/p>\n
The clinical implementation into treatment paradigms is led by Dr. Kevin Becker, Director of Medical Neuro-Oncology.<\/p>\n
Dr. Qian Wu<\/a>, chief of UConn Health’s anatomic pathology and autopsy service, and Dr. Lei Li<\/a>, JAX clinical laboratory director, are co-collaborators on this initiative. Dr. Erica Shen, a third-year UConn neurosurgery resident, recently presented this at the Society for Neuro-Oncology\u2019s annual meeting Nov. 16-20 in Tampa.<\/p>\n
Dr. Qian Wu, professor of pathology and laboratory medicine, is chief of anatomic pathology and autopsy service at UConn Health. (Photo by Tina Encarnacion)<\/figcaption><\/figure>\n This summer they published findings on their application of targeted genomics to meningiomas, the most common primary central nervous system tumors, in Acta Neurochirurgica<\/em>, the European Journal of Neurosurgery<\/a>.<\/p>\n
\u201cThis methylome profiling allows us to precisely give a grading of the meningioma,\u201d Wu says. \u201cTraditionally, the grading is quite subjective. There are three grades of many, so there\u2019s considerable variability. Those patients who are grade one don\u2019t get any further treatment, but grade twos get radiation. So precise diagnosis is very important for the treatment and the prognosis because the grade ones are considered benign, and grade two and above are considered aggressive.\u201d<\/p>\n
She says the brain tumor diagnostic field has been progressing in recent years by incorporating molecular signatures, enabling diagnosis of different classes of brain tumors.<\/p>\n
\u201cWith the traditional methods, we did not know their molecular signatures,\u201d Wu says. \u201cWe could roughly classify them but not diagnose them with molecular tools.\u201d<\/p>\n
As the clinical laboratory director of the The Jackson Laboratory for Genomic Medicine Clinical Genomics Laboratory in Farmington, Dr. Lei Li oversees both molecular and virology specialties. (www.jax.org)<\/figcaption><\/figure>\n Using the example of one of the most common malignant tumors, known as a glioblastoma, a tissue sampling may suggest a low grade, but molecular tools can detect characteristics that would make it a high-grade tumor, resulting in a much different \u2014 potentially life-saving \u2014treatment and prognosis.<\/p>\n
\u201cBecause of the close collaboration between pathology, neurosurgery, and neuro-oncology, we also receive a lot of feedback from the clinic about how useful genomic tools are to clinicians to help them refine their diagnosis and help guide the patient\u2019s treatment,\u201d Li says.<\/p>\n
The JAX-UConn Health collaboration performs genomic sequencing of all brain tumors, and the institutions\u2019 multidisciplinary brain tumor board discusses the results at its biweekly meeting.<\/p>\n
\u201cDr. Li\u2019s expertise in running the molecular analysis enables us to get our patients\u2019 samples evaluated,\u201d Wu says. \u201cWhat\u2019s more is that the quality of the UConn brain tumor board is really greatly enhanced by this state-of-the-art molecular component.\u201d<\/p>\n
An added benefit is JAX\u2019s rich database for clinical trials potentially available for patients based on their mutations.<\/p>\n
\u201cAll these data together really enhance UConn\u2019s capabilities of providing precise diagnosis as well as better treatment choices for the patients,\u201d Wu says. \u201cWe really can anticipate that all this together will draw patients to UConn for the best treatments available.\u201d<\/p>\n
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