Test Name
MPL Exon 10 Mutation Analysis
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
CPT Codes
81402
Turnaround Time
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 Rejections
Insufficient DNA content; Insufficient specimen volume; Specimen at incorrect temperature; Incorrect anticoagulant
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 estimat
References
- 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
- Vainchenker W, Kralovics R. (2017) Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms. Blood. 2017 Feb 9;129(6):667-679
- Beer PA, Campbell PH, Scott LM, et al. 2008. MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort. Blood112:141-149.t
- 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.
