Allele Specific PCR: A Cost Effective Screening Method for MPL Mutations in Myeloproliferative Neoplasms
- 22 Downloads
Philadelphia negative myeloproliferative neoplasm primarily includes Polycythemia Vera, Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF) . Majority of the ET and PMF patients have mutations in JAK2 (JAK2 V617F) or CALR genes. Mutations mapping to the juxtamembrane region of the thrombopoietin receptor MPL (exon 10) have been described in 5–10% of PMF patients and 1% of ET patients, who were negative for JAK2 and CALR mutations . These MPL mutations are gain of function mutations leading to receptor activation in the absence of thrombopoietin binding with constitutive activation of the JAK-STAT signaling. Spontaneous activation of this receptor leads to uncontrolled overactivity resulting in myeloproliferative neoplasms .
The MPLgene located on chromosome 1p34 has 12 exons coding for the thrombopoietin receptor. Four recurrent [c.1544G > T (W515L), c.1543_1544TG > AA (W515 K), c.1543_1544TG > GC (W515A) and c.1514G > A (S505 N)] and two rare...
Compliance with Ethical Standards
Conflict of interest
The authors have no competing interest.
This is a retrospective analysis using DNA extracted from EDTA blood sample that has been collected for routine molecular diagnostic procedures (JAK2, CALR) in patients with myeloproliferative neoplasms in our institution. No additional sample was collected from any patient for this study. All procedures performed in this study involving human participants were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki declaration and its later amendments.