University of Chicago Medicine physicians are leaders in the study of familial risk for blood cancers (hematologic malignancies).
In some cases, blood cancers — leukemia, myelodysplastic syndrome (MDS), lymphoma and multiple myeloma — are related to inherited genetic factors. Among these, the genes responsible for inherited forms of acute leukemia and myelodysplastic syndrome are the best characterized. For example, the following three genes are known to cause inherited forms of MDS and acute leukemia:
- RUNX1 gene: MDS, acute myeloid leukemia (AML) and T-cell acute lymphoblastic leukemia
- CEBPA gene: AML
- GATA2 gene: MDS and AML
Our Hematologic Malignancies Cancer Risk and Prevention Clinic offers personalized risk assessment for patients and families who may be at increased risk for developing cancers of the blood due to genetic factors. Our services include:
- Hematologic malignancies cancer risk assessment and genetic testing
- Cancer prevention counseling and strategies
- Urgent evaluation to help identify optimal hematopoietic stem cell donors for individuals with hematologic disorders and potential family histories that raises concerns
- Long term follow-up for individuals with known or suspected familial MDS/acute leukemia syndromes
Evaluation and risk assessment are offered for individuals or families who have the following in their medical history:
- A personal and family history of longstanding blood count abnormalities of unknown cause
- A personal history of a blood cancer with one or more relatives who also have blood cancers
- A known familial MDS/acute leukemia syndrome such as:
- Familial platelet disorder with propensity for myeloid malignancies (RUNX1 mutation)
- Familial MDS/AML due to GATA2 mutation
- Familial AML due to CEBPA mutation
- Telomere syndromes or other inherited bone marrow failure conditions
