Aiding in the distinction between a reactive cytosis and a myeloproliferative neoplasm

Lavender (EDTA), 4mL

OR

Yellow ACD (A or B)

Immediately following collection, mix sample thoroughly by gentle inverting 8 - 10 times, to prevent clotting

Send specimen in original tube. Do not aliquot.

Label specimen as blood.

Lavender (EDTA), 4mL

or

Yellow ACD (A or B)

Send specimen in original tube. Do not aliquot.

Label specimen as bone marrow.

Hematopathology patient information

Ambient (preferred) - 7 days

Refrigerated - OK

Gross hemolysis

Moderately to severely clotted

Bone marrow biopsies

Slides

Paraffin shavings

Sanger sequencing

An interpretive report will be provided.

DNA sequence mutations in exon 10 of the myeloproliferative leukemia virus oncogene (MPL) have been detected in approximately 5% of patients with primary myelofibrosis (PMF) and essential thrombocythemia (ET), which are hematopoietic neoplasms classified within the broad category of myeloproliferative neoplasms. MPL codes for a transmembrane tyrosine kinase and the most common MPL variants are single base pair substitutions at codon 515. These variants have been shown to promote constitutive, cytokine-independent activation of the JAK/STAT signaling pathway and contribute to the oncogenic phenotype. At least 8 different MPL exon 10 variants have been identified in PMF and ET to date, and variants outside of exon 10 have not yet been reported. The vast majority of MPL variants have been found in specimens testing negative for the most common variant identified in myeloproliferative neoplasms, JAK2 V716F, although a small number of cases with both types of variants have been reported. MPL variants have not been identified in patients with polycythemia vera, chronic myelogenous leukemia, or other myeloid neoplasms.

Identification of MPL variants can aid in the diagnosis of a myeloproliferative neoplasm and is highly suggestive of either PMF or ET.

Medical necessity