The Case of the Biomarker Database Discoveries
By Adrianne Maurer, MSN, AG-ACNP, BMTCN®
Macy is a 57-year-old patient with a history of hormone receptor–positive invasive ductal carcinoma of the right breast, diagnosed in 2017. She achieved complete remission after chemotherapy with anthracycline plus paclitaxel followed by bilateral mastectomy with reconstruction in 2018.
Several weeks after her surgery, Macy reported gum bleeding, rash, and superficial wound infection. Her labs were notable for a white blood cell count of 52,000 with 56% blasts and 31% hematocrit and a platelet count of 41,000. A bone marrow biopsy confirmed a diagnosis of acute myeloid leukemia (AML), and her cytogenetic profile included variants in RUNX1 and KMT2A. FLT3, IDH1/2, and t(15;17) were negative.
Because of her age and lack of comorbidities, Macy is a candidate for hematopoietic stem cell transplantation, but she must first undergo chemotherapy for disease control for her AML. What would you do to understand how her biomarker profile might influence her choice of therapy and outcomes?
What Would You Do?
In many cancers, including hematologic malignancies such as AML, measuring disease-specific biomarkers at diagnosis, progression, or relapse (https://nccn.org/) may help direct treatment decisions. As Macy’s oncology nurse, you want to learn more about her identified biomarkers in preparation for her patient education and ongoing nursing care.
You go straight to the source: the ONS Biomarker Database (https://biomarkers.ons.org/), which contains expertly reviewed and up-to-date information about how Macy’s biomarkers may affect her overall risk category and response to chemotherapy as well as details about U.S. Food and Drug Administration (FDA)–approved targeted therapies associated with her specific biomarkers. The database also links you to in-progress or planned clinical trials for each biomarker. AML currently has limited options for targeted therapies, so a clinical trial may expand Macy’s treatment options.
The database confirms that the absence of t(15;17) (https://biomarkers.ons.org/biomarkers/biomarker-detail/1321) in Macy’s cells indicates that her disease is not acute promyelocytic leukemia (https://doi.org/10.3390/ijms21238942), an AML subset that is treated quite differently. Her RUNX1 variant (https://biomarkers.ons.org/biomarkers/biomarker-detail/1326) could be somatic or germline, and it’s a predictive biomarker that confers relative resistance (https://doi.org/10.1182/blood.2018893982) to standard chemotherapy and associated with an unfavorable prognosis in AML. Her KMT2A variant (https://biomarkers.ons.org/biomarkers/biomarker-detail/1311) is another predictive biomarker that confers a poor overall prognosis (https://doi.org/10.1182/blood.2018893982). You learn from the database that Macy may need an additional bone marrow biopsy in the future for repeat testing for RUNX1 and KMT2A variants to identify disease response or recurrence (https://nccn.org/) after treatment.
You discover that although there are currently no FDA-approved targeted therapies for AML with RUNX1 or KMT2A variants, several clinical trials are investigating the variants as potential therapeutic targets. You use the database to search for clinical trials that Macy may be eligible for.