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 (MDS) 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.

Further Reading: Panel Detects BCR-ABL1 Oncogene Isoform Co-Expression in CML Patient

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,” says 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.”

The HemeScreen Cytopenia Panel offerings are research use only assays that detect clinically actionable somatic mutations in targets of interest related to myeloproliferative disorders. This reagent set is specifically designed to screen for mutations using High Resolution Melt Analysis in WT1 Exon 8, WT1 Exon 10, ASXL1 Exon 12 codon 591, ASXL1 Exon 12 codon 635, ASXL1 Exon 12 codon 693, ASXL1 Exon 12 codon 808, ASXL1 Exon 12 codon 1102, RUNX1 Exon 4, RUNX1 Exon 5, RUNX1 Exon 6, RUNX1 Exon 8, and DNMT3A exon 23. This reagent set is designed for use by suitably trained personnel testing DNA extracted from whole blood or bone marrow.