Myeloproliferative Disease; Essential thrombocythemia (ET), primary myelofibrosis (PMF), hereditary thrombocythemia.
Next Generation Sequencing of MPL genes; TruSight Myeloid (TSM) assay (Illumina, 2016)
5.0 mL (min. 1.0 mL) whole blood EDTA preferred, heparin whole blood accepted
3.0 mL (min. 1.0 mL) bone marrow aspirate EDTA preferred, heparin accepted
Whole blood and bone marrow ship in a Styrofoam container with a cool pack. (Do not allow cool/refrigerated pack to directly contact samples)
Insufficient DNA content; Insufficient specimen volume; Specimen at incorrect temperature; Incorrect anticoagulant
This assay is limited to the detection of SNVs and small to mid-size insertion/deletions (<100 bp) in genes targeted by this panel. The assay does not detect whole gene or exon insertion and deletions, copy number variants or gene rearrangements (fusions). The potential for false negatives for genetic mutations increases in samples with <10% disease type cellularity.
Somatic mutations of codons 515 and 505 in exon 10 of the “myeloproliferative leukemia virus oncogene” (MPL) represent clonal markers in essential thrombocythemia (ET) and primary myelofibrosis (PMF). MPL codon 515 (W515) mutations are found in an estimated 3-4% of patients with ET and 7% of patients with PMF, including approximately 8.5% and 13% of JAK2 V617Fnegative ET and PMF patients. In addition, MPL W515 mutations have been detected in patients who fall within the provisional WHO category of refractory anemia with ring sideroblasts associated with marked thrombocytosis (RARS-T).
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