Miraca Life Sciences, an industry leader in molecular techniques for both solid tumor and hematopoietic malignancies, is pleased to announce the launch of three important molecular assays performed by gene sequencing for blood disorders: JAK2 exon 12, cMPL, and BCR/ABL kinase domain mutation analysis.
JAK2 exon 12 and cMPL are important assays for determining the nature of certain myeloproliferative disorders (MPD), especially polycythemia vera (PV) or idiopathic myeloﬁbrosis (IF). The JAK2 exon 12 mutation may deﬁne speciﬁc MPDs that are currently diagnosed as PV, essential thrombocythemia or idiopathic erythrocytosis. 1 The JAK2 exon 12 mutation can be used in conjunction with more traditional JAK2 V617F testing, especially in patients who are BCR/ABL negative by qPCR.
The mutational analysis for cMPL can also be used in conjunction with JAK2 V617F to determine the exact nature of the MPD in question, particularly the speciﬁc mutation at MPLW515. In fact, MPLW515 positive disease is associated with increased anemia and an increased need for transfusions, consistent with reduced erythropoiesis compared with JAK2 V617F negative primary myeloﬁbrosis (PMF). This suggests that MPLW515+ hematopoietic progenitors trend toward the megakaryocyte lineage, and that there are diﬀerences in signaling between JAK2 V617F and MPLW515L/K that inﬂuence clinical phenotype. 2 Miraca performs the cMPL mutational analysis by gene sequencing, from codons 505 through 515.
BCR/ABL kinase domain mutation analysisis a powerful assay used for monitoring Philadelphia-chromosome positive chronic myeloid leukemia patients receiving a tyrosine-kinase inhibitor. These patients are regularly monitored for their BCR/ABL levels through quantitiative PCR techniques, and the BCR/ABL kinase domain mutation analysis can be used when hematologic or cytogenetic evidence of resistance relapse has occurred. Miraca oﬀers both quantitative PCR for BCR/ABL for routine monitoring and the BCR/ABL kinase domain mutation analysis. 3
All three of the new assays are performed by gene sequencing in Miraca Life Sciences’ Phoenix facilities. Molecular geneticists review and sign every case and are available to answer questions at any time. All three assays can be ordered through a Miraca Life Sciences Hematology / Oncology requisition and can be performed on bone marrow aspirate or peripheral blood. Please refer to Miraca Life Sciences optimal specimen requirements for more information, or contact Miraca Life Sciences Client Services at 1.800.979.8292.
1 JAK2 Exon 12 Mutations in Polycythemia
Vera and Idiopathic Erythrocytosis
Linda M. Scott, Ph.D., Wei Tong, Ph.D., Ross L. Levine, M.D., Mike A. Scott, Ph.D.,, et al, N Engl J Med 2007;356:459-68.
2 Myeloproliferative disorders
Ross L. Levine and D. Gary Gilliland
Blood. 2008 112: 2190-2198
3 Monitoring the response and course of chronic myeloid leukemia in the modern era of BCR-ABL tyrosine kinase inhibitors: practical advice on the use and interpretation of monitoring methods
Hagop Kantarjian,1 Charles Schiﬀer,2 Dan Jones,3 and Jorge Cortes1, Blood, 15 February 2008 _ Volume 111, Number 4