Interestingly, I would highlight that in medical school, we are taught to really associate the leukemias, including pediatric leukemias, with genetic underpinnings, perhaps more so than any other cancer (expect HBOC or Lynch Syndrome probably). So at least there is some traction in this capacity!
Glad to hear that. The current NCCN guidelines for pediatric ALL only recommend considering germline testing when there's suspicion of syndromic presentation, e.g. Down Syndrome or Li-Fraumeni.
They do cite a 2019 Clinical Oncology review that highlights germline risk conferred by mutations in three genes PAX5, ETV6, and IKZF1.
I'd like for the practice to get to a point
where specific germline leukemia panels or WGS/WES for all pediatric leukemias is the norm. And for all pediatric cancers eventually too.
Interestingly, I would highlight that in medical school, we are taught to really associate the leukemias, including pediatric leukemias, with genetic underpinnings, perhaps more so than any other cancer (expect HBOC or Lynch Syndrome probably). So at least there is some traction in this capacity!
Glad to hear that. The current NCCN guidelines for pediatric ALL only recommend considering germline testing when there's suspicion of syndromic presentation, e.g. Down Syndrome or Li-Fraumeni.
They do cite a 2019 Clinical Oncology review that highlights germline risk conferred by mutations in three genes PAX5, ETV6, and IKZF1.
I'd like for the practice to get to a point
where specific germline leukemia panels or WGS/WES for all pediatric leukemias is the norm. And for all pediatric cancers eventually too.
Great synopsis of the field!
Scary...but thank you for your work on this issue, Stetson!