“With a constantly growing number of genetic markers with evidenced or potential clinical impact in lymphoid neoplasms, a more comprehensive genomic test is highly desirable,” explained lead investigator Prof. Dr. Sarka Pospisilova.
“We therefore wanted to design, validate, and implement a new custom-designed NGS panel for the integrative analysis of diagnostic, prognostic, and predictive markers.”
Researchers made a list of biomarkers in chronic lymphocytic leukemia (CLL), acute lymphoblastic leukemia (ALL), diffuse large B-cell lymphoma (DLBCL), follicular lymphoma (FL), and mantle cell lymphoma (MCL) from available resources and established a comprehensive NGS panel for their analysis both in routine clinical practice and in biomedical research.
“Such an all-in-one test covering a broad spectrum of crucial biomarkers in lymphoproliferative disorders represents a unique tool for obtaining relevant information about the patient-specific genetic background from just one biological sample,” noted first author Veronika Navrkalova.
They validated the reliability of the analytical procedure, which enabled an unbiased identification of various prognostic and predictive markers in a single test.
84 DNA samples from 65 patients (30 with CLL, 13 with ALL, 9 with DLBCL, 6 with MCL, and 7 with FL) were sequenced in two validation rounds.
The validation sample cohort was carefully selected to obtain a representative set of different mutation types, copy number variants, common lymphoma translocations, and immunoglobulin/T-cell receptor rearrangements.
LYNX test provides accurate detection of mutations in 70 lymphoma-related genes with high sensitivity, reliable identification of large genome-wide and recurrent chromosomal aberrations, the assessment of immunoglobulin and T-cell receptor gene rearrangements, and lymphoma-specific translocation detection.
“This represents a crucial step toward the effective management of hemato-oncological patients,” commented Prof. Dr. Pospisilova.
“Because this assay is straightforward and can also be used in research, it warrants further prospective testing in close cooperation among researchers, clinical hemato-oncologists, and hematopathologists to demonstrate its clinical utility and benefit for patients with lymphoid malignant tumors.”
LYNX panel is suitable for routine testing with research and clinical applicability and may assist in personalized management of patients with lymphoid malignancies.
Integrated analysis of clinically relevant genomic aberrations could be done. It also monitors clonal evolution of the disease, and reveals various genetic architecture in different lymphoproliferative disorders.
Source: Medindia
