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A Personalized Cancer Therapy Heals a Patient with Advanced Pancreas Cancer

Johns Hopkins

Culling together the results of several genetic research projects, Kimmel Cancer Center researchers and clinicians were able to develop a personalized treatment that has one pancreas cancer patient symptom free for three years and counting.

This dramatic outcome stemmed from new research that used personalized genome sequencing on an individual with a hereditary form of pancreatic cancer to locate the gene mutation responsible for initiating the disease. The discovery marked the first use of a genome scanning system to uncover suspect mutations in normal inherited genes.

It revealed the culprit as a gene called PALB2 which stands for “partner and co-localizer of BRCA2.” PALB2 seems to disrupt BRAC2 interactions that are critical to DNA repair. Alterations to the BRCA2 gene were linked in research done years earlier to ten percent or more of pancreas cancers and found to make pancreas cancers more responsive to treatment with the FDA-approved drugs mytomycin C and cisplatin.

Investigators observed that a personalized xenograft (a mouse implanted with a tumor sample) was having a remarkable response to the drug mytomycin C and cisplatin. The tumor sample used in the xenograft came from a patient who had advanced pancreatic cancer that was virtually unstoppable with standard therapies. Genetic analysis of the patient’s tumor revealed an inactive PALB2 gene. Based on these findings, the patient was treated with several cycles of the two drugs, and went from having just three months to live to symptom free.

While there is much work left to do, this work illustrates the potential of personalized cancer medicine to improve cancer therapy.

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