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Myeloproliferative Neoplasm Mutations (without BCR-ABL, JAK2, and MPL)

Test code(s) 91401

This test can be used to aid in the diagnosis of myeloproliferative neoplasms (MPN). It is suitable for patients with granulocytosis, erythrocytosis, or thrombocytosis, especially when they have tested negative for a BCR-ABL1 fusion transcript and for JAK2 mutations.

Blood samples can be tested at the time of initial presentation or relapse. Bone marrow samples can be tested whenever the morphologic and flow cytometric evaluation is equivocal or nondiagnostic.

This assay is a next-generation sequencing (NGS), DNA-based assay that targets the frequently mutated areas of 7 genes (ASXL1, EXH2, IDH1, IDH2, KRAS, NRAS, and TET2). These are genes that are commonly mutated in MPNs. Mutations detected in the NGS screen are confirmed by another sequencing method prior to reporting. Results of most assays are reported within 7 working days.

JAK2 and MPL mutation testing typically precedes this test. Their exclusion from this test avoids duplicate testing. Alternate test configurations may be offered in the future.

This assay can detect the presence of a mutant allele when it constitutes 5% to 10% of the population. Our studies show that this test may detect an MPN-related mutation in up to 50% of samples that previously tested negative for the JAK2 V617F mutation.1 A negative test result (ie, no mutation detected) does not exclude an MPN.

We provide a text-based report of the mutations detected. A graphical report is also available via Care360. Contact the HelpDesk for assistance if you need help accessing the graphical report.

Detection of a mutation indicates the presence of a clonal hematopoietic neoplasm. Determination of the precise type of clonal neoplasm requires correlation with the immunophenotype and morphologic findings. Mutations targeted in this test can be found in all types of myeloid neoplasms including MPNs, myelodysplastic syndrome, and acute myeloid leukemia.2,3

 

References

  1. Wang Y, Ho AK, Billouin-Frazier S, et al. Additive value of high-throughput sequence detection of myeloid-associated gene mutations in establishing a diagnosis of myeloproliferative neoplasms [USCAP abstract 1528]. Mod Pathol. 2013;26(S2):365A.
  2. Vainchenker W, Delhommeau F, Constantinescu SN, et al. New mutations and pathogenesis of myeloproliferative neoplasms. Blood. 2011;118:1723-1735.
  3. Grossmann, V, Kohlmann A, Eder C, et al. Molecular profiling of chronic myelomonocytic leukemia reveals diverse mutations in >80% of patients with TET2 and EZH2 being of high prognostic relevance. Leukemia. 2011;25:877-879.

 

This FAQ is provided for informational purposes only and is not intended as medical advice. A clinician’s test selection and interpretation, diagnosis, and patient management decisions should be based on his/her education, clinical expertise, and assessment of the patient.

 

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