Mayo Clinic & Harvard identify new mutations

Researchers at the Mayo Clinic and Harvard University in the U.S. have identified two additional mutations that may play a role in myeloproliferative disease. The discovery of the JAK2 mutation (called the JAK2V617F) is exciting news, yet many patients with ET and MF test negative for JAK2. The Mayo/Harvard study sought to answer questions about patients who do not carry JAK2V617F.

Some evidence suggests that more than one mutation may lead to myeloproliferative disease. The researchers decided to look at the JAK-STAT signalling pathway to search for additional mutations; they identified two mutations called MPLW515L and MPLW515K. The first occurs in about 5% of patients with MMM or ET; the second in 1% of the same patients. A few patients carried both the MPLW515L and the JAK2V617 mutations, while patients with PV did not carry these 515L and K mutations.

The researchers believe a designer drug in the form of a “small molecule inhibitor” could be used to treat patients suffering from MPDs with the MPLW515L mutation, just as a similar type of inhibitor could help patients with the JAK2 mutation. Drugs like this could be effective in treating and potentially curing the disease. (Please see the article on JAK2 for more information about cell communications pathways, small molecule inhibitors, and what this means for MPD patients.)

This new research also suggests that other as yet undiscovered mutations may exist, and research should continue to discover these.