iCare3: Monitoring Circulating Cancer DNA After Chemotherapy in MDS and AML

The greatest challenge in cancer is relapsed disease. Despite best available therapies,
approximately 20% of acute myeloid leukemia (AML) patients and 80% of myelodysplastic
syndrome (MDS) patients die of relapsed disease. Minimal residual disease (MRD) is the main
predictor of refractory disease following chemotherapy. In AML and MDS patients, mutant
allele frequency (MAF) associates with future occurrence of relapse. Current oncology
practice relies on painful bone marrow biopsies and light microscopy to monitor disease
progression, remission, and relapse. Because of the bias in disease sampling and low
sensitivity testing, there is an urgent need for a higher sensitivity test to monitor the
tumor burden in these patients. The Investigator developed a rapid and ultrahigh sensitivity
method to detect cancer-associated mutant alleles. This study will use our droplet digital
PCR (ddPCR) method to quantify and track peripheral blood plasma MAF in MDS and AML patients
before, during and after chemotherapy treatment. Quantification of MAF from fingersticks and
saliva samples will also be performed to determine feasibility of obtaining adequate
circulating tumor DNA (ctDNA) for ddPCR. Results from this project will generate a
non-invasive means to monitor cancer response and progression months before current clinical
methods, and provide an opportunity to intervene before the patient relapses. Furthermore,
establishing a quantitative method to measure cancer burden will empower clinical researchers
to measure biological activity in phase II and III clinical trials of new therapeutic agents.

Inclusion Criteria:

- Clinical diagnosis of MDS or AML;

- Have previously consented or prospectively consent to participate in iCare for Cancer
(IRB201500073) and the Malignant Hematology Bank (IRB201501063); and

- Must be 18 years of age or older.

Exclusion Criteria:

- Have not previously consented or prospectively consent to participate in iCare for
Cancer (IRB201500073) and the Malignant Hematology Bank (IRB201501063); and

- Must be 100 years of age or less.