46-Year-Old Female
ATM GERMLINE AND ALK FUSION SOMATIC RESULTS

“The germline ATM and somatic ALK fusion molecular findings in this individual with pancreatic cancer have a tremendous impact on not only her treatment but also her family.” -Dr. Paul Walker, Chief Medical Officer, Former Director of Thoracic Oncology at East Carolina University

Germline mutations will be found in up to 17% of individuals with pancreatic cancer. The majority will be BRCA1/BRCA2, with 2-3% ATM germline mutations. Identifying these mutations has a profound lifesaving impact on any identified affected first-degree relatives who undergo recommended focused pancreatic cancer EUS and MRI screening.

The detection of ALK gene fusion radically changes the treatment approach from a group-standard, non-specific chemotherapy to a far more effective individually targeted oral ALK tyrosine kinase inhibitor. NTRK, ROS1, RET and NRG1 fusions can also occur. As tumor biology becomes the cancer treatment focus beyond just the anatomy, the same targeted, tissue-agnostic treatment can be effective across many different cancers. Although rarely within the group, for this individual the ALK fusion (and for all with a rare N of 1 oncogene driver mutation) individually targeted therapy is 100% the right choice.An exceptional response is just the right therapy. With more tissue and plasma NGS testing for your patients, you will begin to see what you did not know before. The result is precision oncology guiding  personalized cancer treatment. 

“In this case ALK TKI is recommended along with germline testing and focused pancreatic screening of possibly affected first-degree relatives. Without the germline and somatic molecular testing, none of this would be known. This was the right treatment for the patient, and a potential lifesaving gift for her family!” – Dr. Paul Walker, Chief Medical Officer, Former Director of Thoracic Oncology at East Carolina University

Sources:
– JCCN, Volume 17, Number 5.5
– Goggins M, et al. Gut 2020;69:7–17. doi:10.1136/gutjnl-2019-319352
– JCO™ Precision Oncology 1, July 20, 2020 from 045.025.056.125
– The Lancet Oncology, Volume 21, Issue 4

CIRCULOGENE’S comprehensive pancreatic panel is a noninvasive technique that can be combined with traditional tissue biopsy to track cell-free DNA and detect disease biomarkers in blood faster and more accurately.