Specialty cancer diagnostics company Precipio, Inc. leveraged its proprietary HemeScreen Cytopenia panel as part of the diagnostic process for molecular identification of driver mutations in a patient with a history of transfusion-dependent anemia and experiencing progressive weakness and neurological symptoms. The findings point to an underlying myeloid stem cell disorder, including a myelodysplastic syndrome and possibly a higher-grade myeloid neoplasm.
A major advantage in the case work-up using the Omnia methodology was the ability to detect these driver mutations using only a peripheral blood sample and not requiring a further bone marrow biopsy to confirm pathology suspicions. This enabled a more comprehensive and rapid result for the clinician to act upon to manage patient care.
In this case, the detection of ASXL1 and WT1 mutations are associated with a poor prognosis, further reinforcing the need for accuracy and speed in this case work-up.
“Providing a comprehensive diagnosis with minimally invasive sample procurement is critical to informing treatment decisions,” said Ilan Danieli, Precipio CEO. “Not only does this enable our lab to deliver a rapid diagnosis, but greatly improves patient compliance from those who would otherwise need a more invasive, follow up bone marrow biopsy to confirm results.”
