FLT3; NPM1; CEPBA; IDH1; IDH2; KRAS; NRAS; TP53; Next generation sequencing of leukemia; Next Gen Sequencing Test; NGS for acute myeloid leukemia evaluation; NGS hematologic malignancies; Somatic mutation detection by next generation sequencing (NGS), hematologic; DNMT3A; KIT; RUNX1; NGAML; Enasidenib therapy; Gilteritinib therapy; Ivosidenib therapy; Next-Gen Sequencing, Acute Myeloid Leukemia (NGAML)
Evaluation of acute myeloid leukemia (AML) using a focused 11-gene panel at the time of diagnosis or possibly at relapsed/refractory disease to help guide classification and possible therapeutic approaches.
Bone marrow and peripheral blood specimens must arrive within 14 days of collection.
The following information is required:
1. Clinical diagnosis
2. Pertinent clinical history, including disease phase (diagnostic, remission, relapse/refractory) and therapy status (especially if patient has received a hematopoietic stem cell transplant).
3. Clinical or morphologic suspicion
4. Date of collection
5. Specimen source
Bone marrow & peripheral whole blood:
1. Invert several times to mix blood.
2. Send specimen in original tube. DO NOT aliquot.
3. Label specimen as bone marrow OR blood.
Extracted DNA from blood or bone marrow:
Label specimen as extracted DNA and source of specimen with indication of volume and concentration of the DNA.
Gross hemolysis, Bone marrow biopsies, slides, paraffin shavings or frozen tissues, paraffin-embedded tissues, paraffin-embedded bone marrow aspirates, moderately to severely clotted specimens
This test is a targeted next-generation sequencing (NGS) assay that encompasses 11 genes with variable full exon, partial region (including select intronic or noncoding regions), or hot spot coverage (depending on specific locus). Therefore, this test will not detect other genetic abnormalities in genes or regions outside the specified target areas. The test detects single base substitutions (ie, point mutations), as well as small insertion or deletion type events, but it does not detect gene rearrangements (ie, translocations), gene fusions, copy number alterations, or large scale (segmental chromosome region) deletions and complex changes.
This assay does not distinguish between somatic and germline alterations in analyzed gene regions, particularly with variant allele frequencies near 50% or 100%. If nucleotide alterations in genes associated with germline variant syndromes are present and there is a strong clinical suspicion or family history of malignant disease predisposition, additional genetic testing and appropriate counseling may be indicated. A low incidence of gene mutations associated with myeloid neoplasms can be detected in nonmalignant hematopoietic cells in individuals with advancing age (clonal hematopoiesis of indeterminate potential), and these may not be clearly distinguishable from tumor-associated mutations. Some apparent mutations classified as variants of uncertain significance may represent rare or low-frequency polymorphisms.
Prior treatment for hematologic malignancy could affect the results obtained in this assay. In particular, a prior allogeneic hematopoietic stem cell transplant may cause difficulties in resolving somatic or polymorphic alterations or assigning variant calls correctly to donor and recipient fractions, if pertinent clinical or laboratory information (eg, chimerism engraftment status) is not provided.
The finding of a genetic alteration does not necessarily indicate the presence of a myeloid neoplasm. Correlation with clinical, histopathologic, and additional laboratory findings is required for final interpretation of NGS results and is the responsibility of the managing physician.