Germline predisposition to hematopoietic malignancies

There is increased appreciation for the role that germline mutations play in conferring risk for hematopoietic malignancies. These mutations can be identified using comprehensive testing and can often be surmised by mutational studies performed on tumor cells. Ongoing studies are investigating the frequency of germline mutations in particular patient populations as well as the role that these mutations play in particular cell populations.
After viewing this lecture, participants should be able to:
1. Identify which patients are at high risk of having a germline mutation.
2. Understand the elements of testing platforms that constitute comprehensive testing.
3. Discuss clinical features that are unique to particular germline predisposition syndromes.

Lucy Godley, MD, PhD
Professor of Medicine, Hematology and Oncology
University of Chicago School of Medicine

01/22/20

[dcantwell]

What a great informed daughter of the patient! I love it. Sometimes it takes a new set of eyes on a complex problem to help solve it using a different lens ❤

[dcantwell]

What is the out of pocket cost with no insurance for germline variant testing?

[dcantwell]

Do you ever check for germline mutations if the patient has a related condition such as multiple autoimmune diseases then develops LGL leukemia might have a germline predisposition when the patient is known to already have 5 somatic GOF mutations found in a bone marrow biopsy related to the LGL leukemia and rheumatoid arthritis one somatic mutation is stat3 GOF.