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MPL Exon 10 Mutation Analysis by Next Generation Sequencing

Test Code

M MPL

Associations

Myeloproliferative Disease; Essential thrombocythemia (ET), primary myelofibrosis (PMF), hereditary thrombocythemia.

Reflex testing
May be of interest to further evaluate involvement by Primary Myelofibrosis or Essential Thrombocythemia if JAK2 or CALR mutations are not detected
Methodology

Next Generation Sequencing of MPL genes; TruSight Myeloid (TSM) assay (Illumina, 2016)

Turnaround Time

7-10 days

Specimen Requirements

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

Specimen Stability
EDTA whole blood or bone marrow stable at room temperature (18-25°C)
Storage & Handling

Whole blood and bone marrow ship in a Styrofoam container with a cool pack. (Do not allow cool/refrigerated pack to directly contact samples)

Causes for Rejection

Insufficient DNA content; Insufficient specimen volume; Specimen at incorrect temperature; Incorrect anticoagulant

Reference Range

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.

Description

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).

References
  1. Arber et al. (2106).  The 2016 revision to the World Health Organization Classification of Myeloid Neoplasms and Acute Leukemia.  Blood. 2016 May 19;127(20):2391-405
  2. Vainchenker W, Kralovics R. (2017) Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms.  Blood. 2017 Feb 9;129(6):667-679
  3. Beer PA, Campbell PH, Scott LM, et al. 2008. MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort. Blood112:141-149.t
  4. Pardanani AD, Levine RL Lasho T, et al. MPL 515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 2006;108:3472-3476.
Trademarks

Illumina and TruSight are trademarks of illumina Inc,